Recent advances in primary ciliary dyskinesia genetics
Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructur...
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| Published in | Journal of Medical Genetics Vol. 52; no. 1; pp. 1 - 9 |
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| Main Authors | , , |
| Format | Journal Article Book Review |
| Language | English |
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01.01.2015
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| Abstract | Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and/or beating pattern as well as the recognition of genetic cause of the disease. Regarding the pace of identification of PCD-related genes, a rapid acceleration during the last 2–3 years is notable. This is the result of new technologies, such as whole-exome sequencing, that have been recently applied in genetic research. To date, PCD-causative mutations in 29 genes are known and the number of causative genes is bound to rise. Even though the genetic causes of approximately one-third of PCD cases still remain to be found, the current knowledge can already be used to create new, accurate genetic tests for PCD that can accelerate the correct diagnosis and reduce the proportion of unexplained cases. This review aims to present the latest data on the relations between ciliary structure aberrations and their genetic basis. |
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| AbstractList | Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and/or beating pattern as well as the recognition of genetic cause of the disease. Regarding the pace of identification of PCD-related genes, a rapid acceleration during the last 2-3years is notable. This is the result of new technologies, such as whole-exome sequencing, that have been recently applied in genetic research. To date, PCD-causative mutations in 29 genes are known and the number of causative genes is bound to rise. Even though the genetic causes of approximately one-third of PCD cases still remain to be found, the current knowledge can already be used to create new, accurate genetic tests for PCD that can accelerate the correct diagnosis and reduce the proportion of unexplained cases. This review aims to present the latest data on the relations between ciliary structure aberrations and their genetic basis. Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and/or beating pattern as well as the recognition of genetic cause of the disease. Regarding the pace of identification of PCD-related genes, a rapid acceleration during the last 2-3 years is notable. This is the result of new technologies, such as whole-exome sequencing, that have been recently applied in genetic research. To date, PCD-causative mutations in 29 genes are known and the number of causative genes is bound to rise. Even though the genetic causes of approximately one-third of PCD cases still remain to be found, the current knowledge can already be used to create new, accurate genetic tests for PCD that can accelerate the correct diagnosis and reduce the proportion of unexplained cases. This review aims to present the latest data on the relations between ciliary structure aberrations and their genetic basis. |
| Author | Witt, Michał Ziętkiewicz, Ewa Kurkowiak, Małgorzata |
| AuthorAffiliation | 2 International Institute of Molecular and Cell Biology , Warsaw , Poland 1 Department of Molecular and Clinical Genetics , Institute of Human Genetics, Polish Academy of Sciences , Poznań , Poland |
| AuthorAffiliation_xml | – name: 1 Department of Molecular and Clinical Genetics , Institute of Human Genetics, Polish Academy of Sciences , Poznań , Poland – name: 2 International Institute of Molecular and Cell Biology , Warsaw , Poland |
| Author_xml | – sequence: 1 givenname: Małgorzata surname: Kurkowiak fullname: Kurkowiak, Małgorzata organization: International Institute of Molecular and Cell Biology, Warsaw, Poland – sequence: 2 givenname: Ewa surname: Ziętkiewicz fullname: Ziętkiewicz, Ewa organization: Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland – sequence: 3 givenname: Michał surname: Witt fullname: Witt, Michał organization: International Institute of Molecular and Cell Biology, Warsaw, Poland |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/25351953$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/ng.727 10.1159/000276166 10.1093/hmg/dds368 10.1016/j.ajhg.2009.01.011 10.1128/JCM.02164-13 10.1016/j.ajhg.2012.11.002 10.1161/CIRCULATIONAHA.106.649038 10.1164/rccm.200603-370OC 10.1016/j.earlhumdev.2013.07.022 10.1038/nsmb.2272 10.1016/j.ajhg.2008.10.001 10.1089/jam.2006.19.110 10.1186/1477-7827-11-33 10.1016/j.ajhg.2012.10.003 10.1016/j.ajhg.2012.11.003 10.1164/rccm.200303-365OC 10.1242/jcs.012773 10.1038/nsmb.1832 10.1038/ng.726 10.1016/j.ajhg.2013.07.013 10.1159/000128567 10.1002/humu.22698 10.1164/rccm.201311-2047OC 10.1186/2046-2530-2-14 10.1159/000324121 10.1126/science.1084576 10.1183/09031936.00186209 10.1136/jmg.2005.034868 10.1016/j.ajhg.2011.03.018 10.1016/j.devcel.2012.05.022 10.1091/mbc.E08-04-0362 10.1007/s00405-010-1341-9 10.1002/humu.22371 10.1091/mbc.E12-05-0357 10.1164/rccm.200601-084OC 10.1073/pnas.0611405104 10.1016/j.ajhg.2014.08.005 10.5483/BMBRep.2013.46.2.022 10.1016/j.ajhg.2013.07.009 10.1016/j.ajhg.2013.11.017 10.1016/j.ajhg.2009.10.018 10.1016/j.ajhg.2009.11.008 10.3109/01913123.2013.815081 10.1126/science.1222538 10.1038/onc.2012.588 10.1086/302683 10.1016/j.ajhg.2013.06.009 10.1038/ng.1106 10.1016/S0091-679X(08)91007-4 10.1016/j.ajhg.2013.08.015 10.1083/jcb.200504008 10.1165/ajrcmb.23.5.4257 10.1016/j.ajhg.2012.08.022 10.1186/1465-9921-11-174 10.1378/chest.13-1704 10.1007/BF02141468 10.1038/ng.2707 10.1136/jmedgenet-2012-100867 10.1083/jcb.200908067 10.1371/journal.pone.0059436 10.1002/cm.21035 10.1136/jmedgenet-2013-101938 10.1016/j.ajhg.2013.07.025 10.1136/thoraxjnl-2011-200301 10.1038/ng817 10.1007/s00439-006-0210-5 10.1038/ng.2277 10.1146/annurev.physiol.69.040705.141301 10.1513/AnnalsATS.201305-110OC 10.2353/ajpath.2008.070381 10.1371/journal.pone.0089675 10.1186/1750-1172-9-11 10.1183/09031936.00046209 10.1038/ng.2961 10.1136/archdischild-2013-304831 10.1038/nature07471 10.1165/rcmb.2004-0335OC 10.1091/mbc.E11-08-0692 10.1093/hmg/ddu046 10.1371/journal.pone.0033667 10.1016/j.prrv.2009.02.001 10.1091/mbc.E11-03-0271 10.1038/ng.2533 10.1016/j.ajhg.2013.06.007 10.1007/s00018-011-0911-3 10.1016/S0091-6749(03)01799-8 10.1091/mbc.E08-05-0470 10.1111/j.1651-2227.2002.tb03299.x 10.1016/j.abb.2011.04.003 10.1183/09031936.00001010 10.1038/nn.2555 10.1002/humu.22001 10.1164/rccm.201301-0059CI 10.1002/ppul.22632 10.1164/rccm.200903-0459OC 10.1183/09031936.00176608 10.1016/j.ajhg.2012.08.016 |
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| References | Afzelius (R30) 1976; 193 Knowles, Leigh, Ostrowski, Huang, Carson, Hazucha, Yin, Berg, Davis, Dell, Ferkol, Rosenfeld, Sagel, Milla, Olivier, Turner, Lewis, Bamshad, Nickerson, Shendure, Zariwala (R68) 2013; 92 Hirst, Jackson, Coles, Williams, Rutman, Goggin, Adam, Page, Evans, Lackie, O'Callaghan, Lucas (R52) 2014; 9 Escudier, Duquesnoy, Papon, Amselem (R47) 2009; 10 Failly, Saitta, Muñoz, Falconnet, Rossier, Santamaria, de Santi, Lazor, DeLozier-Blanchet, Bartoloni, Blouin (R64) 2008; 76 Heuser, Dymek, Lin, Smith, Nicastro (R23) 2012; 23 Loges, Olbrich, Fenske, Mussaffi, Horvath, Fliegauf, Kuhl, Baktai, Peterffy, Chodhari, Chung, Rutman, O'Callaghan, Blau, Tiszlavicz, Voelkel, Witt, Zietkiewicz, Neesen, Reinhardt, Mitchison, Omran (R24) 2008; 83 Ziętkiewicz, Nitka, Voelkel, Skrzypczak, Bukowy, Rutkiewicz, Humińska, Przystałowska, Pogorzelski, Witt (R63) 2010; 11 Dymek, Heuser, Nicastro, Smith (R22) 2011; 22 Jorissen, Van der Schueren, Van den Berghe, Cassiman (R51) 1990; 52 Coren, Meeks, Morrison, Buchdahl, Bush (R36) 2002; 91 Zariwala, Knowles, Omran (R49) 2007; 69 Knowles, Ostrowski, Loges, Hurd, Leigh, Huang, Wolf, Carson, Hazucha, Yin, Davis, Dell, Ferkol, Sagel, Olivier, Jahnke, Olbrich, Werner, Raidt, Wallmeier, Pennekamp, Dougherty, Hjeij, Gee, Otto, Halbritter, Chaki, Diaz, Braun, Porath, Schueler, Baktai, Griese, Turner, Lewis, Bamshad, Nickerson, Hildebrandt, Shendure, Omran, Zariwala (R82) 2013; 93 Omran, Loges (R50) 2009; 91 Rogers, Carroll, Zain, Bruce, Lock, Walker, Jones, Daniels, Lucas (R39) 2013; 51 Castleman, Romio, Chodhari, Hirst, de Castro, Parker, Ybot-Gonzalez, Emes, Wilson, Wallis, Johnson, Herrera, Rutman, Dixon, Shoemark, Bush, Hogg, Gardiner, Reish, Greene, O'Callaghan, Purton, Chung, Mitchison (R87) 2009; 84 Ho, Ali, Al-Jazrawe, Kandel, Wunder, Alman (R17) 2013; 32 Papon, Coste, Roudot-Thoraval, Boucherat, Roger, Tamalet, Vojtek, Amselem, Escudier (R46) 2010; 35 Leigh, Hazucha, Chawla, Baker, Shapiro, Brown, Lavange, Horton, Qaqish, Carson, Davis, Dell, Ferkol, Atkinson, Olivier, Sagel, Rosenfeld, Milla, Lee, Krischer, Zariwala, Knowles (R45) 2013; 10 Movassagh, Bui, Sakakibara, Oiwa, Ishikawa (R98) 2010; 17 Raidt, Wallmeier, Hjeij, Onnebrink, Pennekamp, Loges, Olbrich, Häffner, Dougherty, Omran, Werner (R61) 2014 Onoufriadis, Paff, Antony, Shoemark, Micha, Kuyt, Schmidts, Petridi, Dankert-Roelse, Haarman, Daniels, Emes, Wilson, Hogg, Scambler, Chung, Pals, Mitchison (R69) 2013; 92 Muhammad, Rais, Miosge, Ornan (R16) 2012; 69 Bukowy-Bieryłło, Ziętkiewicz, Loges, Wittmer, Geremek, Olbrich, Fliegauf, Voelkel, Rutkiewicz, Rutland, Morgan, Pogorzelski, Martin, Haan, Berger, Omran, Witt (R59) 2013; 48 O'Toole, Giddings, Porter, Ostrowski (R101) 2012; 69 Gallagher, Esquivel, Briere, Tian, Mitobe, Menezes, Markowitz, Jain, Onuchic, Somlo (R15) 2008; 172 Panizzi, Becker-Heck, Castleman, Al-Mutairi, Liu, Loges, Pathak, Austin-Tse, Sheridan, Schmidts, Olbrich, Werner, Häffner, Hellman, Chodhari, Gupta, Kramer-Zucker, Olale, Burdine, Schier, O'Callaghan, Chung, Reinhardt, Mitchison, King, Omran, Drummond (R74) 2013; 44 Blanchon, Legendre, Copin, Duquesnoy, Montantin, Kott, Dastot, Jeanson, Cachanado, Rousseau, Papon, Beydon, Brouard, Crestani, Deschildre, Désir, Dollfus, Leheup, Tamalet, Thumerelle, Vojtek, Escalier, Coste, de Blic, Clément, Escudier, Amselem (R84) 2011; 49 Chilvers, Rutman, O'Callaghan (R93) 2003; 112 Moore, Onoufriadis, Shoemark, Simpson, zur Lage, de Castro, Bartoloni, Gallone, Petridi, Woollard, Antony, Schmidts, Didonna, Makrythanasis, Bevillard, Mongan, Djakow, Pals, Lucas, Marthin, Nielsen, Santoni, Guipponi, Hogg, Antonarakis, Emes, Chung, Greene, Blouin, Jarman, Mitchison (R81) 2013; 93 Omran, Häffner, Völkel, Kuehr, Ketelsen, Ross, Konietzko, Wienker, Brandis, Hildebrandt (R54) 2000; 23 Hornef, Olbrich, Horvath, Zariwala, Fliegauf, Loges, Wildhaber, Noone, Kennedy, Antonarakis, Blouin, Bartoloni, Nüsslein, Ahrens, Griese, Kuhl, Sudbrak, Knowles, Reinhardt, Omran (R43) 2006; 174 Tarkar, Loges, Slagle, Francis, Dougherty, Tamayo, Shook, Cantino, Schwartz, Jahnke, Olbrich, Werner, Raidt, Pennekamp, Abouhamed, Hjeij, Köhler, Griese, Li, Lemke, Klena, Liu, Gabriel, Tobita, Jaspers, Morgan, Shapiro, Letteboer, Mans, Carson, Leigh, Wolf, Chen, Lucas, Onoufriadis, Plagnol, Schmidts, Boldt, K, Roepman, Zariwala, Lo, Mitchison, Knowles, Burdine, Loturco, Omran (R77) 2013; 45 Sievert (R28) 1904; 41 Onoufriadis, Shoemark, Munye, James, Schmidts, Patel, Rosser, Bacchelli, Beales, Scambler, Hart, Danke-Roelse, Sloper, Hull, Hogg, Emes, Pals, Moore, Chung, Mitchison (R70) 2014; 51 Kott, Legendre, Copin, Papon, Dastot-Le Moal, Montantin, Duquesnoy, Piterboth, Amram, Bassinet, Beucher, Beydon, Deneuville, Houdouin, Journel, Just, Nathan, Tamalet, Collot, Jeanson, Le Gouez, Vallette, Vojtek, Epaud, Coste, Clement, Housset, Louis, Escudier, Amselem (R89) 2013; 93 Hjeij, Lindstrand, Francis, Zariwala, Liu, Li, Damerla, Dougherty, Abouhamed, Olbrich, Loges, Pennekamp, Davis, Carvalho, Pehlivan, Werner, Raidt, Köhler, Häffner, Reyes-Mugica, Lupski, Leigh, Rosenfeld, Morgan, Knowles, Lo, Katsanis, Omran (R71) 2013; 93 Barbato, Frischer, Kuehni, Snijders, Azevedo, Baktai, Bartoloni, Eber, Escribano, Haarman, Hesselmar, Hogg, Jorissen, Lucas, Nielsen, O'Callaghan, Omran, Pohunek, Strippoli, Bush (R26) 2009; 34 Shapiro, Davis, Ferkol, Dell, Rosenfeld, Olivier, Sagel, Milla, Zariwala, Wolf, Carson, Hazucha, Burns, Robinson, Knowles, Leigh (R34) 2014 Lucas, Burgess, Mitchison, Moya, Williamson, Hogg (R97) 2014; 99 Hjeij, Onoufriadis, Watson, Slagle, Klena, Dougherty, Kurkowiak, Loges, Diggle, Morante, Gabriel, Lemke, Li, Pennekamp, Menchen, Konert, Marthin, Mans, Letteboer, Werner, Burgoyne, Westermann, Rutman, Carr, O'Callaghan, Moya, Chung, Sheridan, Nielsen, Roepman, Bartscherer, Burdine, Lo, Omran, Mitchison (R72) 2014; 95 Tissir, Qu, Montcouquiol, Zhou, Komatsu, Shi, Fujimori, Labeau, Tyteca, Courtoy, Poumay, Uemura, Goffinet (R5) 2010; 13 Budny, Chen, Omran, Fliegauf, Tzschach, Wisniewska, Jensen, Raynaud, Shoichet, Badura, Lenzner, Latos-Bielenska, Ropers (R60) 2006; 120 Yoshiba, Shiratori, Kuo, Kawasumi, Shinohara, Nonaka, Asai, Sasaki, Belo, Sasaki, Nakai, Dworniczak, Ehrlich, Pennekamp, Hamada (R9) 2012; 338 Sommer, Schäfer, Omran, Olbrich, Wallmeier, Blum, Hörmann, Stuck (R35) 2011; 268 Kuehni, Frischer, Strippoli, Maurer, Bush, Nielsen, Escribano, Lucas, Yiallouros, Omran, Eber, O'Callaghan, Snijders, Barbato (R25) 2010; 36 Barber, Heuser, Carbajal-González, Botchkarev, Nicastro (R100) 2012; 23 Horváth, Fliegauf, Olbrich, Kispert, King, Mitchison, Zariwala, Knowles, Sudbrak, Fekete, Neesen, Reinhardt, Omran (R65) 2005; 33 Kindt, Finch, Nicolson (R11) 2012; 23 Stannard, Chilvers, Rutman, Williams, O'Callaghan (R32) 2010; 181 Omran, Kobayashi, Olbrich, Tsukahara, Loges, Hagiwara, Zhang, Leblond, O'Toole, Hara, Mizuno, Kawano, Fliegauf, Yagi, Koshida, Miyawaki, Zentgraf, Seithe, Reinhardt, Watanabe, Kamiya, Mitchell, Takeda (R75) 2008; 456 Alsaadi, Erzurumluoglu, Rodriguez, Guthrie, Gaunt, Omar, Mubarak, Alharbi, Al-Rikabi, Day (R73) 2014 Knowles, Leigh, Carson, Davis, Dell, Ferkol, Olivier, Sagel, Rosenfeld, Burns, Minnix, Armstrong, Lori, Hazucha, Loges, Olbrich, Becker-Heck, Schmidts, Werner, Omran, Zariwala (R41) 2012; 67 Wirschell, Yamamoto, Alford, Gokhale, Gaillard, Sale (R1) 2011; 510 Mitchison, Schmidts, Loges, Freshour, Dritsoula, Hirst, O'Callaghan, Blau, Al Dabbagh, Olbrich, Beales, Yagi, Mussaffi, Chung, Omran, Mitchell (R76) 2012; 44 Schneider, Ulland, Sloboda (R3) 2008; 19 Ben Khelifa, Coutton, Zouari, Karaouzène, Rendu, Bidart, Yassine, Pierre, Delaroche, Hennebicq, Grunwald, Escalier, Pernet-Gallay, Jouk, Thierry-Mieg, Touré, Arnoult, Ray (R8) 2014; 94 Ziętkiewicz, Bukowy-Bieryłło, Voelkel, Klimek, Dmeńska, Pogorzelski, Sulikowska-Rowińska, Rutkiewicz, Witt (R88) 2012; 7 Kennedy, Omran, Leigh, Dell, Morgan, Molina, Robinson, Minnix, Olbrich, Severin, Ahrens, Lange, Morillas, Noone, Zariwala, Knowles (R33) 2007; 115 Wirschell, Olbrich, Werner, Tritschler, Bower, Sale, Loges, Pennekamp, Lindberg, Stenram, Carlén, Horak, Köhler, Nürnberg, Nürnberg, Porter, Omran (R86) 2013; 45 Boon, Smits, Cuppens, Jaspers, Proesmans, Dupont, Vermeulen, Van Daele, Malfroot, Godding, Jorissen, De Boeck (R38) 2014; 9 Zariwala, Gee, Kurkowiak, Al-Mutairi, Leigh, Hurd, Hjeij, Dell, Chaki, Dougherty, Adan, Spear, Esteve-Rudd, Loges, Rosenfeld, Diaz, Olbrich, Wolf, Sheridan, Batten, Halbritter, Porath, Kohl, Lovric, Hwang, Pittman, Burns, Ferkol, Sagel, Olivier, Morgan, Werner, Raidt, Pennekamp, Sun, Zhou, Airik, Natarajan, Allen, Amirav, Wieczorek, Landwehr, Nielsen, Schwerk, Sertic, Köhler, Washburn, Levy, Fan, Koerner-Rettberg, Amselem, Williams, Mitchell, Drummond, Otto, Omran, Knowles, Hildebrandt (R7) 2013; 93 Lin, Nauman, Albee, Hsu, Dutcher (R4) 2013; 2 Knowles, Daniels, Davis, Zariwala, Leigh (R96) 2013; 188 Wang, Yost, Amack (R10) 2013 Moore, Escudier, Roger, Tamalet, Pelosse, Marlin, Clément, Geremek, Delaisi, Bridoux, Coste, Witt, Duriez, Amselem (R58) 2006; 43 Noone, Leigh, Sannuti, Minnix, Carson, Hazucha, Zariwala, Knowles (R31) 2004; 169 Bergmann (R12) 2014 Horani, Ferkol, Shoseyov, Wasserman, Oren, Kerem, Amirav, Cohen-Cymberknoh, Dutcher, Brody, Elpeleg, Kerem (R80) 2013; 8 Stannard, O'Callaghan (R37) 2006; 19 Olbrich, Häffner, Kispert, Völkel, Volz, Sasmaz, Reinhardt, Hennig, Lehrach, Konietzko, Zariwala, Noone, Knowles, Mitchison, Meeks, Chung, Hildebrandt, Sudbrak, Omran (R42) 2002; 30 Tanner, Rompolas, Patel-King, Gorbatyuk, Wakabayashi, Pazour, King (R99) 2008; 19 Horani, Druley, Zariwala, Patel, Levinson, Van Arendonk, Thornton, Giacalone, Albee, Wilson, Turner, Nickerson, Shendure, Bayly, Leigh, Knowles, Brody, Dutcher, Ferkol (R78) 2012; 91 Pifferi, Michelucci, Conidi, Cangiotti, Simi, Macchia, Boner (R40) 2010; 35 Loges, Olbrich, Becker-Heck, Häffner, Heer, Reinhard, Schmidts, Kispert, Zariwala, Leigh, Knowles, Zentgraf, Seithe, Nürnberg, Nürnberg, Reinhardt, Omran (R55) 2009; 85 Larusso, Masyuk (R14) 2011; 29 Merveille, Davis, Becker-Heck Rogers, Carroll, Zain, Bruce, Lock, Walker, Jones, Daniels, Lucas 2013; 51 Lin, Nauman, Albee, Hsu, Dutcher 2013; 2 Zariwala, Knowles, Omran 2007; 69 Gallagher, Esquivel, Briere, Tian, Mitobe, Menezes, Markowitz, Jain, Onuchic, Somlo 2008; 172 Pennarun, Escudier, Chapelin, Bridoux, Cacheux, Roger, Clément, Goossens, Amselem, Duriez 1999; 65 Onoufriadis, Shoemark, Munye, James, Schmidts, Patel, Rosser, Bacchelli, Beales, Scambler, Hart, Danke-Roelse, Sloper, Hull, Hogg, Emes, Pals, Moore, Chung, Mitchison 2014; 51 Shapiro, Davis, Ferkol, Dell, Rosenfeld, Olivier, Sagel, Milla, Zariwala, Wolf, Carson, Hazucha, Burns, Robinson, Knowles, Leigh 2014 Knowles, Ostrowski, Leigh, Sears, Davis, Wolf, Hazucha, Carson, Olivier, Sagel, Rosenfeld, Ferkol, Dell, Milla, Randell, Yin, Sannuti, Metjian, Noone, Noone, Olson, Patrone, Dang, Lee, Hurd, Gee, Otto, Halbritter, Kohl, Kircher, Krischer, Bamshad, Nickerson, Hildebrandt, Shendure, Zariwala 2014; 189 Lucas, Adam, Goggin, Jackson, Powles-Glover, Patel, Humphreys, Fray, Falconnet, Blouin, Cheeseman, Bartoloni, Norris, Lackie 2012; 33 Failly, Saitta, Muñoz, Falconnet, Rossier, Santamaria, de Santi, Lazor, DeLozier-Blanchet, Bartoloni, Blouin 2008; 76 Wang, Yost, Amack 2013 Jorissen, Van der Schueren, Van den Berghe, Cassiman 1990; 52 Onoufriadis, Shoemark, Schmidts, Patel, Jimenez, Liu, Thomas, Dixon, Hirst, Rutman, Burgoyne, Williams, Scully, Bolard, Lafitte, Beales, Hogg, Yang, Chung, Emes, O'Callaghan, Bouvagnet, Mitchison 2014; 23 Knowles, Daniels, Davis, Zariwala, Leigh 2013; 188 Lucas, Burgess, Mitchison, Moya, Williamson, Hogg 2014; 99 Omran, Häffner, Völkel, Kuehr, Ketelsen, Ross, Konietzko, Wienker, Brandis, Hildebrandt 2000; 23 Hirst, Jackson, Coles, Williams, Rutman, Goggin, Adam, Page, Evans, Lackie, O'Callaghan, Lucas 2014; 9 Blanchon, Legendre, Copin, Duquesnoy, Montantin, Kott, Dastot, Jeanson, Cachanado, Rousseau, Papon, Beydon, Brouard, Crestani, Deschildre, Désir, Dollfus, Leheup, Tamalet, Thumerelle, Vojtek, Escalier, Coste, de Blic, Clément, Escudier, Amselem 2011; 49 Noone, Leigh, Sannuti, Minnix, Carson, Hazucha, Zariwala, Knowles 2004; 169 Horváth, Fliegauf, Olbrich, Kispert, King, Mitchison, Zariwala, Knowles, Sudbrak, Fekete, Neesen, Reinhardt, Omran 2005; 33 Rompolas, Pedersen, Patel-King, King 2007; 120 Omran, Loges 2009; 91 Tissir, Qu, Montcouquiol, Zhou, Komatsu, Shi, Fujimori, Labeau, Tyteca, Courtoy, Poumay, Uemura, Goffinet 2010; 13 Heuser, Raytchev, Krell, Porter, Nicastro 2009; 187 Pifferi, Di Cicco, Piras, Cangiotti, Saggese 2013; 89 Sievert 1904; 41 Pifferi, Michelucci, Conidi, Cangiotti, Simi, Macchia, Boner 2010; 35 Knowles, Leigh, Ostrowski, Huang, Carson, Hazucha, Yin, Berg, Davis, Dell, Ferkol, Rosenfeld, Sagel, Milla, Olivier, Turner, Lewis, Bamshad, Nickerson, Shendure, Zariwala 2013; 92 Barber, Heuser, Carbajal-González, Botchkarev, Nicastro 2012; 23 Daniels, Leigh, Davis, Armstrong, Carson, Hazucha, Dell, Eriksson, Collins, Knowles, Zariwala 2013; 34 Schneider, Ulland, Sloboda 2008; 19 Raidt, Wallmeier, Hjeij, Onnebrink, Pennekamp, Loges, Olbrich, Häffner, Dougherty, Omran, Werner 2014 Larusso, Masyuk 2011; 29 Budny, Chen, Omran, Fliegauf, Tzschach, Wisniewska, Jensen, Raynaud, Shoichet, Badura, Lenzner, Latos-Bielenska, Ropers 2006; 120 Duquesnoy, Escudier, Vincensini, Freshour, Bridoux, Coste, Deschildre, de Blic, Legendre, Montantin, Tenreiro, Vojtek, Loussert, Clément, Escalier, Bastin, Mitchell, Amselem 2009; 85 Muhammad, Rais, Miosge, Ornan 2012; 69 Duriez, Duquesnoy, Escudier, Bridoux, Escalier, Rayet, Marcos, Vojtek, Bercher, Amselem 2007; 104 Mazor, Alkrinawi, Chalifa-Caspi, Manor, Sheffield, Aviram, Parvari 2011; 88 Bergmann 2014 Wirschell, Yamamoto, Alford, Gokhale, Gaillard, Sale 2011; 510 Loges, Olbrich, Fenske, Mussaffi, Horvath, Fliegauf, Kuhl, Baktai, Peterffy, Chodhari, Chung, Rutman, O'Callaghan, Blau, Tiszlavicz, Voelkel, Witt, Zietkiewicz, Neesen, Reinhardt, Mitchison, Omran 2008; 83 Tanner, Rompolas, Patel-King, Gorbatyuk, Wakabayashi, Pazour, King 2008; 19 Hornef, Olbrich, Horvath, Zariwala, Fliegauf, Loges, Wildhaber, Noone, Kennedy, Antonarakis, Blouin, Bartoloni, Nüsslein, Ahrens, Griese, Kuhl, Sudbrak, Knowles, Reinhardt, Omran 2006; 174 Loges, Olbrich, Becker-Heck, Häffner, Heer, Reinhard, Schmidts, Kispert, Zariwala, Leigh, Knowles, Zentgraf, Seithe, Nürnberg, Nürnberg, Reinhardt, Omran 2009; 85 Panizzi, Becker-Heck, Castleman, Al-Mutairi, Liu, Loges, Pathak, Austin-Tse, Sheridan, Schmidts, Olbrich, Werner, Häffner, Hellman, Chodhari, Gupta, Kramer-Zucker, Olale, Burdine, Schier, O'Callaghan, Chung, Reinhardt, Mitchison, King, Omran, Drummond 2013; 44 Tarkar, Loges, Slagle, Francis, Dougherty, Tamayo, Shook, Cantino, Schwartz, Jahnke, Olbrich, Werner, Raidt, Pennekamp, Abouhamed, Hjeij, Köhler, Griese, Li, Lemke, Klena, Liu, Gabriel, Tobita, Jaspers, Morgan, Shapiro, Letteboer, Mans, Carson, Leigh, Wolf, Chen, Lucas, Onoufriadis, Plagnol, Schmidts, Boldt, K, Roepman, Zariwala, Lo, Mitchison, Knowles, Burdine, Loturco, Omran 2013; 45 Sommer, Schäfer, Omran, Olbrich, Wallmeier, Blum, Hörmann, Stuck 2011; 268 Kott, Duquesnoy, Copin, Legendre, Dastot-Le Moal, Montantin, Jeanson, Tamalet, Papon, Siffroi, Rives, Mitchell, de Blic, Coste, Clement, Escalier, Touré, Escudier, Amselem 2012; 91 Chilvers, Rutman, O'Callaghan 2003; 112 Olbrich, Häffner, Kispert, Völkel, Volz, Sasmaz, Reinhardt, Hennig, Lehrach, Konietzko, Zariwala, Noone, Knowles, Mitchison, Meeks, Chung, Hildebrandt, Sudbrak, Omran 2002; 30 Afzelius 1976; 193 Funkhouser, Niethammer, Carson, Burns, Knowles, Leigh, Zariwala, Funkhouser 2013; 38 Onoufriadis, Paff, Antony, Shoemark, Micha, Kuyt, Schmidts, Petridi, Dankert-Roelse, Haarman, Daniels, Emes, Wilson, Hogg, Scambler, Chung, Pals, Mitchison 2013; 92 Olbrich, Schmidts, Werner, Onoufriadis, Loges, Raidt, Banki, Shoemark, Burgoyne, Al Turki, Hurles, Köhler, Schroeder, Nürnberg, Nürnberg, Chung, Reinhardt, Marthin, Nielsen, Mitchison, Omran 2012; 91 Boon, Smits, Cuppens, Jaspers, Proesmans, Dupont, Vermeulen, Van Daele, Malfroot, Godding, Jorissen, De Boeck 2014; 9 Pazour, Agrin, Leszyk, Witman 2005; 170 Zariwala, Gee, Kurkowiak, Al-Mutairi, Leigh, Hurd, Hjeij, Dell, Chaki, Dougherty, Adan, Spear, Esteve-Rudd, Loges, Rosenfeld, Diaz, Olbrich, Wolf, Sheridan, Batten, Halbritter, Porath, Kohl, Lovric, Hwang, Pittman, Burns, Ferkol, Sagel, Olivier, Morgan, Werner, Raidt, Pennekamp, Sun, Zhou, Airik, Natarajan, Allen, Amirav, Wieczorek, Landwehr, Nielsen, Schwerk, Sertic, Köhler, Washburn, Levy, Fan, Koerner-Rettberg, Amselem, Williams, Mitchell, Drummond, Otto, Omran, Knowles, Hildebrandt 2013; 93 Merveille, Davis, Becker-Heck, Legendre, Amirav, Bataille, Belmont, Beydon, Billen, Clément, Clercx, Coste, Crosbie, de Blic, Deleuze, Duquesnoy, Escalier, Escudier, Fliegauf, Horvath, Hill, Jorissen, Just, Kispert, Lathrop, Loges, Marthin, Momozawa, Montantin, Nielsen, Olbrich, Papon, Rayet, Roger, Schmidts, Tenreiro, Towbin, Zelenika, Zentgraf, Georges, Lequarré, Katsanis, Omran, Amselem 2011; 43 Wirschell, Olbrich, Werner, Tritschler, Bower, Sale, Loges, Pennekamp, Lindberg, Stenram, Carlén, Horak, Köhler, Nürnberg, Nürnberg, Porter, Omran 2013; 45 Kennedy, Omran, Leigh, Dell, Morgan, Molina, Robinson, Minnix, Olbrich, Severin, Ahrens, Lange, Morillas, Noone, Zariwala, Knowles 2007; 115 Hjeij, Onoufriadis, Watson, Slagle, Klena, Dougherty, Kurkowiak, Loges, Diggle, Morante, Gabriel, Lemke, Li, Pennekamp, Menchen, Konert, Marthin, Mans, Letteboer, Werner, Burgoyne, Westermann, Rutman, Carr, O'Callaghan, Moya, Chung, Sheridan, Nielsen, Roepman, Bartscherer, Burdine, Lo, Omran, Mitchison 2014; 95 Barbato, Frischer, Kuehni, Snijders, Azevedo, Baktai, Bartoloni, Eber, Escribano, Haarman, Hesselmar, Hogg, Jorissen, Lucas, Nielsen, O'Callaghan, Omran, Pohunek, Strippoli, Bush 2009; 34 Zariwala, Leigh, Ceppa, Kennedy, Noone, Carson, Hazucha, Lori, Horvath, Olbrich, Loges, Bridoux, Pennarun, Duriez, Escudier, Mitchison, Chodhari, Chung, Morgan, de Iongh, Rutland, Pradal, Omran, Amselem, Knowles 2006; 174 Horani, Ferkol, Shoseyov, Wasserman, Oren, Kerem, Amirav, Cohen-Cymberknoh, Dutcher, Brody, Elpeleg, Kerem 2013; 8 Bylander, Lind, Goksör, Billig, Larsson 2013; 11 Escudier, Duquesnoy, Papon, Amselem 2009; 10 Heuser, Dymek, Lin, Smith, Nicastro 2012; 23 Papon, Coste, Roudot-Thoraval, Boucherat, Roger, Tamalet, Vojtek, Amselem, Escudier 2010; 35 Moore, Escudier, Roger, Tamalet, Pelosse, Marlin, Clément, Geremek, Delaisi, Bridoux, Coste, Witt, Duriez, Amselem 2006; 43 Stannard, Chilvers, Rutman, Williams, O'Callaghan 2010; 181 Kuehni, Frischer, Strippoli, Maurer, Bush, Nielsen, Escribano, Lucas, Yiallouros, Omran, Eber, O'Callaghan, Snijders, Barbato 2010; 36 Austin-Tse, Halbritter, Zariwala, Gilberti, Gee, Hellman, Pathak, Liu, Panizzi, Patel-King, Tritschler, Bower, O'Toole, Porath, Hurd, Chaki, Diaz, Kohl, Lovric, Hwang, Braun, Schueler, Airik, Otto, Leigh, Noone, Carson, Davis, Pittman, Ferkol, Atkinson, Olivier, Sagel, Dell, Rosenfeld, Milla, Loges, Omran, Porter, King, Knowles, Drummond, Hildebrandt 2013; 93 Leigh, Hazucha, Chawla, Baker, Shapiro, Brown, Lavange, Horton, Qaqish, Carson, Davis, Dell, Ferkol, Atkinson, Olivier, Sagel, Rosenfeld, Milla, Lee, Krischer, Zariwala, Knowles 2013; 10 Kott, Legendre, Copin, Papon, Dastot-Le Moal, Montantin, Duquesnoy, Piterboth, Amram, Bassinet, Beucher, Beydon, Deneuville, Houdouin, Journel, Just, Nathan, Tamalet, Collot, Jeanson, Le Gouez, Vallette, Vojtek, Epaud, Coste, Clement, Housset, Louis, Escudier, Amselem 2013; 93 Hjeij, Lindstrand, Francis, Zariwala, Liu, Li, Damerla, Dougherty, Abouhamed, Olbrich, Loges, Pennekamp, Davis, Carvalho, Pehlivan, Werner, Raidt, Köhler, Häffner, Reyes-Mugica, Lupski, Leigh, Rosenfeld, Morgan, Knowles, Lo, Katsanis, Omran 2013; 93 Kartagener 1933; 83 Bukowy-Bieryłło, Ziętkiewicz, Loges, Wittmer, Geremek, Olbrich, Fliegauf, Voelkel, Rutkiewicz, Rutland, Morgan, Pogorzelski, Martin, Haan, Berger, Omran, Witt 2013; 48 Castleman, Romio, Chodhari, Hirst, de Castro, Parker, Ybot-Gonzalez, Emes, Wilson, Wallis, 20008568 - J Cell Biol. 2009 Dec 14;187(6):921-33 21496787 - Am J Hum Genet. 2011 May 13;88(5):599-607 23261303 - Am J Hum Genet. 2013 Jan 10;92(1):88-98 12162599 - Acta Paediatr. 2002;91(6):667-9 22983710 - Science. 2012 Oct 12;338(6104):226-31 23973004 - Early Hum Dev. 2013 Oct;89 Suppl 3:S45-8 23891471 - Am J Hum Genet. 2013 Aug 8;93(2):346-56 21691098 - Dig Dis. 2011;29(1):6-12 23567922 - J Vis Exp. 2013;(73). doi: 10.3791/50038 17059358 - Annu Rev Physiol. 2007;69:423-50 24747639 - Nat Genet. 2014 Jun;46(6):646-51 19948909 - Eur Respir J. 2009 Dec;34(6):1264-76 25192045 - Am J Hum Genet. 2014 Sep 4;95(3):257-74 23261302 - Am J Hum Genet. 2013 Jan 10;92(1):99-106 22581229 - Nat Genet. 2012 Jun;44(6):714-9 22898777 - Dev Cell. 2012 Aug 14;23(2):329-41 23122589 - Am J Hum Genet. 2012 Nov 2;91(5):958-64 22940612 - Hum Mol Genet. 2012 Dec 1;21(23):5174-84 24771309 - Arch Dis Child. 2014 Sep;99(9):850-6 23246966 - Oncogene. 2013 Nov 21;32(47):5388-96 24229452 - Cilia. 2013 Oct 30;2(1):14 23433108 - BMB Rep. 2013 Feb;46(2):73-9 11062149 - Am J Respir Cell Mol Biol. 2000 Nov;23(5):696-702 24450482 - Orphanet J Rare Dis. 2014;9:11 20473291 - Nat Neurosci. 2010 Jun;13(6):700-7 18950741 - Am J Hum Genet. 2008 Nov;83(5):547-58 16055928 - J Med Genet. 2006 Apr;43(4):326-33 24024753 - Ann Am Thorac Soc. 2013 Dec;10(6):574-81 2274321 - ORL J Otorhinolaryngol Relat Spec. 1990;52(6):368-74 23891469 - Am J Hum Genet. 2013 Aug 8;93(2):336-45 23527195 - PLoS One. 2013;8(3):e59436 22426545 - Nat Struct Mol Biol. 2012 May;19(5):492-7, S1 22693285 - J Med Genet. 2012 Jun;49(6):410-6 16858015 - Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66 16783569 - Hum Genet. 2006 Sep;120(2):171-8 24094744 - Am J Hum Genet. 2013 Oct 3;93(4):672-86 24577564 - Chest. 2014 Nov;146(5):1176-86 13679810 - J Allergy Clin Immunol. 2003 Sep;112(3):518-24 20652291 - Eur Arch Otorhinolaryngol. 2011 Mar;268(3):383-8 17895364 - J Cell Sci. 2007 Oct 15;120(Pt 20):3653-65 21131974 - Nat Genet. 2011 Jan;43(1):79-84 15998802 - J Cell Biol. 2005 Jul 4;170(1):103-13 22184204 - Thorax. 2012 May;67(5):433-41 22573610 - Cytoskeleton (Hoboken). 2012 Aug;69(8):577-90 23796196 - Am J Respir Crit Care Med. 2013 Oct 15;188(8):913-22 16551222 - J Aerosol Med. 2006 Spring;19(1):110-5 16627867 - Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6 22888088 - Pediatr Pulmonol. 2013 Apr;48(4):352-63 23040496 - Am J Hum Genet. 2012 Oct 5;91(4):685-93 24360805 - Am J Hum Genet. 2014 Jan 2;94(1):95-104 23957500 - Ultrastruct Pathol. 2014 Aug;38(4):248-55 19200523 - Am J Hum Genet. 2009 Feb;84(2):197-209 24584572 - Pediatr Nephrol. 2015 Jan;30(1):15-30 14656747 - Am J Respir Crit Care Med. 2004 Feb 15;169(4):459-67 20513915 - Eur Respir J. 2010 Jun;35(6):1413-6 18701702 - Mol Biol Cell. 2008 Oct;19(10):4319-27 17515466 - Circulation. 2007 Jun 5;115(22):2814-21 25224326 - Hum Mutat. 2014 Dec;35(12):1446-8 24518672 - Hum Mol Genet. 2014 Jul 1;23(13):3362-74 22102620 - Hum Mutat. 2012 Mar;33(3):495-503 19910612 - Am J Respir Crit Care Med. 2010 Feb 15;181(4):307-14 22448264 - PLoS One. 2012;7(3):e33667 23872636 - Nat Genet. 2013 Sep;45(9):995-1003 24068019 - J Clin Microbiol. 2013 Dec;51(12):4029-35 18579685 - Mol Biol Cell. 2008 Sep;19(9):3724-34 17360648 - Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41 21613541 - Mol Biol Cell. 2011 Jul 15;22(14):2520-31 24203976 - J Med Genet. 2014 Jan;51(1):61-7 22072792 - Mol Biol Cell. 2012 Jan;23(1):111-20 23022101 - Am J Hum Genet. 2012 Oct 5;91(4):672-84 20453857 - Nat Struct Mol Biol. 2010 Jun;17(6):761-7 19410201 - Paediatr Respir Rev. 2009 Jun;10(2):51-4 24055112 - Am J Hum Genet. 2013 Oct 3;93(4):711-20 23354437 - Nat Genet. 2013 Mar;45(3):262-8 20530032 - Eur Respir J. 2010 Dec;36(6):1248-58 23651709 - Reprod Biol Endocrinol. 2013;11:33 22740634 - Mol Biol Cell. 2012 Aug;23(16):3143-55 22241332 - Cell Mol Life Sci. 2012 Jul;69(13):2101-7 15845866 - Am J Respir Cell Mol Biol. 2005 Jul;33(1):41-7 23993197 - Am J Hum Genet. 2013 Sep 5;93(3):561-70 25186273 - Eur Respir J. 2014 Dec;44(6):1579-88 1084576 - Science. 1976 Jul 23;193(4250):317-9 18434704 - Respiration. 2008;76(2):198-204 22387996 - Nat Genet. 2012 Apr;44(4):381-9, S1-2 21131972 - Nat Genet. 2011 Jan;43(1):72-8 11788826 - Nat Genet. 2002 Feb;30(2):143-4 10577904 - Am J Hum Genet. 1999 Dec;65(6):1508-19 21513695 - Arch Biochem Biophys. 2011 Jun 15;510(2):93-100 18202188 - Am J Pathol. 2008 Feb;172(2):417-29 19840971 - Eur Respir J. 2010 May;35(5):1057-63 20409784 - Methods Cell Biol. 2009;91:123-33 23849778 - Am J Hum Genet. 2013 Aug 8;93(2):357-67 23798057 - Hum Mutat. 2013 Oct;34(10):1352-6 19052621 - Nature. 2008 Dec 4;456(7222):611-6 19944400 - Am J Hum Genet. 2009 Dec;85(6):883-9 21143860 - Respir Res. 2010;11:174 19944405 - Am J Hum Genet. 2009 Dec;85(6):890-6 24586956 - PLoS One. 2014;9(2):e89675 24568568 - Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17 Dymek (key-10.1136/jmedgenet-2014-102755-22) 2011; 22 Rompolas (key-10.1136/jmedgenet-2014-102755-2) 2007; 120 Wirschell (key-10.1136/jmedgenet-2014-102755-86) 2013; 45 Olbrich (key-10.1136/jmedgenet-2014-102755-92) 2012; 91 Wallmeier (key-10.1136/jmedgenet-2014-102755-44) 2014; 46 Blanchon (key-10.1136/jmedgenet-2014-102755-84) 2011; 49 Stannard (key-10.1136/jmedgenet-2014-102755-37) 2006; 19 Lucas (key-10.1136/jmedgenet-2014-102755-97) 2014; 99 Pifferi (key-10.1136/jmedgenet-2014-102755-40) 2010; 35 Austin-Tse (key-10.1136/jmedgenet-2014-102755-83) 2013; 93 Barbato (key-10.1136/jmedgenet-2014-102755-26) 2009; 34 Ziętkiewicz (key-10.1136/jmedgenet-2014-102755-88) 2012; 7 Pennarun (key-10.1136/jmedgenet-2014-102755-53) 1999; 65 Hjeij (key-10.1136/jmedgenet-2014-102755-71) 2013; 93 Heuser (key-10.1136/jmedgenet-2014-102755-23) 2012; 23 Merveille 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Funkhouser (key-10.1136/jmedgenet-2014-102755-48) 2013; 38 Knowles (key-10.1136/jmedgenet-2014-102755-96) 2013; 188 Escudier (key-10.1136/jmedgenet-2014-102755-47) 2009; 10 Mitchison (key-10.1136/jmedgenet-2014-102755-76) 2012; 44 Onoufriadis (key-10.1136/jmedgenet-2014-102755-90) 2014; 23 Loges (key-10.1136/jmedgenet-2014-102755-55) 2009; 85 Olbrich (key-10.1136/jmedgenet-2014-102755-42) 2002; 30 Leigh (key-10.1136/jmedgenet-2014-102755-45) 2013; 10 Wang (key-10.1136/jmedgenet-2014-102755-10) 2013 Knowles (key-10.1136/jmedgenet-2014-102755-91) 2014; 189 Lucas (key-10.1136/jmedgenet-2014-102755-95) 2012; 33 Gallagher (key-10.1136/jmedgenet-2014-102755-15) 2008; 172 Omran (key-10.1136/jmedgenet-2014-102755-50) 2009; 91 Failly (key-10.1136/jmedgenet-2014-102755-64) 2008; 76 Ho (key-10.1136/jmedgenet-2014-102755-17) 2013; 32 Hirst (key-10.1136/jmedgenet-2014-102755-52) 2014; 9 Hjeij (key-10.1136/jmedgenet-2014-102755-72) 2014; 95 Kott (key-10.1136/jmedgenet-2014-102755-89) 2013; 93 Bergmann (key-10.1136/jmedgenet-2014-102755-12) 2014 Ziętkiewicz (key-10.1136/jmedgenet-2014-102755-63) 2010; 11 Omran (key-10.1136/jmedgenet-2014-102755-75) 2008; 456 Bukowy-Bieryłło (key-10.1136/jmedgenet-2014-102755-59) 2013; 48 Yoshiba (key-10.1136/jmedgenet-2014-102755-9) 2012; 338 Horani (key-10.1136/jmedgenet-2014-102755-80) 2013; 8 Coren (key-10.1136/jmedgenet-2014-102755-36) 2002; 91 Budny (key-10.1136/jmedgenet-2014-102755-60) 2006; 120 Horani (key-10.1136/jmedgenet-2014-102755-78) 2012; 91 Kott (key-10.1136/jmedgenet-2014-102755-79) 2012; 91 Kennedy (key-10.1136/jmedgenet-2014-102755-33) 2007; 115 Alsaadi (key-10.1136/jmedgenet-2014-102755-73) 2014 Rogers (key-10.1136/jmedgenet-2014-102755-39) 2013; 51 Onoufriadis (key-10.1136/jmedgenet-2014-102755-70) 2014; 51 Chilvers (key-10.1136/jmedgenet-2014-102755-93) 2003; 112 Daniels (key-10.1136/jmedgenet-2014-102755-94) 2013; 34 Zariwala (key-10.1136/jmedgenet-2014-102755-49) 2007; 69 O'Toole 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Raidt (key-10.1136/jmedgenet-2014-102755-61) 2014 Ben Khelifa (key-10.1136/jmedgenet-2014-102755-8) 2014; 94 Boon (key-10.1136/jmedgenet-2014-102755-38) 2014; 9 Panizzi (key-10.1136/jmedgenet-2014-102755-74) 2013; 44 Loges (key-10.1136/jmedgenet-2014-102755-24) 2008; 83 Muhammad (key-10.1136/jmedgenet-2014-102755-16) 2012; 69 Noone (key-10.1136/jmedgenet-2014-102755-31) 2004; 169 Pifferi (key-10.1136/jmedgenet-2014-102755-27) 2013; 89 Moore (key-10.1136/jmedgenet-2014-102755-58) 2006; 43 Zariwala (key-10.1136/jmedgenet-2014-102755-7) 2013; 93 Movassagh (key-10.1136/jmedgenet-2014-102755-98) 2010; 17 Schneider (key-10.1136/jmedgenet-2014-102755-3) 2008; 19 Lin (key-10.1136/jmedgenet-2014-102755-4) 2013; 2 Jorissen (key-10.1136/jmedgenet-2014-102755-51) 1990; 52 Horváth (key-10.1136/jmedgenet-2014-102755-65) 2005; 33 |
| References_xml | – volume: 93 start-page: 336 year: 2013 ident: R7 article-title: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 publication-title: Am J Hum Genet contributor: fullname: Hildebrandt – volume: 44 start-page: 381 year: 2012 ident: R76 article-title: Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia publication-title: Nat Genet contributor: fullname: Mitchell – volume: 7 start-page: e33667 year: 2012 ident: R88 article-title: Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients publication-title: PLoS ONE contributor: fullname: Witt – volume: 23 start-page: 329 year: 2012 ident: R11 article-title: Kinocilia mediate mechanosensitivity in developing zebrafish hair cells publication-title: Dev Cell contributor: fullname: Nicolson – volume: 44 start-page: 714 year: 2013 ident: R74 article-title: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms publication-title: Nat Genet contributor: fullname: Drummond – volume: 33 start-page: 495 year: 2012 ident: R95 article-title: Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD publication-title: Hum Mutat contributor: fullname: Lackie – volume: 91 start-page: 672 year: 2012 ident: R92 article-title: Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry publication-title: Am J Hum Genet contributor: fullname: Omran – volume: 46 start-page: 73 year: 2013 ident: R13 article-title: Mouse models of polycystic kidney disease induced by defects of ciliary proteins publication-title: BMB Rep contributor: fullname: Park – volume: 45 start-page: 262 year: 2013 ident: R86 article-title: The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans publication-title: Nat Genet contributor: fullname: Omran – volume: 120 start-page: 171 year: 2006 ident: R60 article-title: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome publication-title: Hum Genet contributor: fullname: Ropers – volume: 69 start-page: 577 year: 2012 ident: R101 article-title: Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure publication-title: Cytoskeleton (Hoboken) contributor: fullname: Ostrowski – volume: 76 start-page: 198 year: 2008 ident: R64 article-title: DNAI1 mutations explain only 2% of primary ciliary dykinesia publication-title: Respiration contributor: fullname: Blouin – volume: 92 start-page: 99 year: 2013 ident: R68 article-title: Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Zariwala – volume: 93 start-page: 346 year: 2013 ident: R81 article-title: Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Mitchison – volume: 85 start-page: 890 year: 2009 ident: R56 article-title: Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Amselem – volume: 112 start-page: 518 year: 2003 ident: R93 article-title: Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia publication-title: J Allergy Clin Immunol contributor: fullname: O'Callaghan – volume: 93 start-page: 561 year: 2013 ident: R89 article-title: Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects publication-title: Am J Hum Genet contributor: fullname: Amselem – volume: 21 start-page: 5174 year: 2012 ident: R18 article-title: FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies publication-title: Hum Mol Genet contributor: fullname: Rivolta – volume: 91 start-page: 667 year: 2002 ident: R36 article-title: Primary ciliary dyskinesia: age at diagnosis and symptom history publication-title: Acta Paediatr contributor: fullname: Bush – volume: 94 start-page: 95 year: 2014 ident: R8 article-title: Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella publication-title: Am J Hum Genet contributor: fullname: Ray – volume: 170 start-page: 103 year: 2005 ident: R19 article-title: Proteomic analysis of a eukaryotic cilium publication-title: J Cell Biol contributor: fullname: Witman – volume: 65 start-page: 1508 year: 1999 ident: R53 article-title: Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Duriez – volume: 17 start-page: 761 year: 2010 ident: R98 article-title: Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis publication-title: Nat Struct Mol Biol contributor: fullname: Ishikawa – volume: 189 start-page: 707 year: 2014 ident: R91 article-title: Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype publication-title: Am J Respir Crit Care Med contributor: fullname: Zariwala – volume: 174 start-page: 120 year: 2006 ident: R43 article-title: DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects publication-title: Am J Respir Crit Care Med contributor: fullname: Omran – volume: 91 start-page: 123 year: 2009 ident: R50 article-title: Immunofluorescence staining of ciliated respiratory epithelial cells publication-title: Methods Cell Biol contributor: fullname: Loges – volume: 99 start-page: 850 year: 2014 ident: R97 article-title: Diagnosis and management of primary ciliary dyskinesia publication-title: Arch Dis Child contributor: fullname: Hogg – start-page: e50038 issue: 10 year: 2013 ident: R10 article-title: Analysis of gene function and visualization of cilia-generated fluid flow in Kupffer's vesicle publication-title: J Vis Exp contributor: fullname: Amack – volume: 19 start-page: 492 year: 2012 ident: R20 article-title: Insights into dynein motor domain function from a 3.3-Å crystal structure publication-title: Nat Struct Mol Biol contributor: fullname: Carter – volume: 46 start-page: 646 year: 2014 ident: R44 article-title: Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia publication-title: Nat Genet contributor: fullname: Omran – volume: 338 start-page: 226 year: 2012 ident: R9 article-title: Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2 publication-title: Science contributor: fullname: Hamada – volume: 95 start-page: 257 year: 2014 ident: R72 article-title: CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation publication-title: Am J Hum Genet contributor: fullname: Mitchison – volume: 8 start-page: e59436 year: 2013 ident: R80 article-title: LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects publication-title: PLoS ONE contributor: fullname: Kerem – volume: 174 start-page: 858 year: 2006 ident: R62 article-title: Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation publication-title: Am J Respir Crit Care Med contributor: fullname: Knowles – volume: 456 start-page: 611 year: 2008 ident: R75 article-title: Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins publication-title: Nature contributor: fullname: Takeda – year: 2014 ident: R34 article-title: Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy publication-title: Chest contributor: fullname: Leigh – volume: 10 start-page: 574 year: 2013 ident: R45 article-title: Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia publication-title: Ann Am Thorac Soc contributor: fullname: Knowles – year: 2014 ident: R12 article-title: ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies publication-title: Pediatr Nephrol contributor: fullname: Bergmann – volume: 193 start-page: 317 year: 1976 ident: R30 article-title: A human syndrome caused by immotile cilia publication-title: Science contributor: fullname: Afzelius – volume: 41 start-page: 139 year: 1904 ident: R28 article-title: Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum publication-title: Berliner klinische Wochenschrift contributor: fullname: Sievert – volume: 34 start-page: 1264 year: 2009 ident: R26 article-title: Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children publication-title: Eur Respir J contributor: fullname: Bush – volume: 38 start-page: 248 year: 2013 ident: R48 article-title: A new tool improves diagnostic test performance for transmission EM evaluation of axonemal dynein arms publication-title: Ultrasrtuct Pathol contributor: fullname: Funkhouser – volume: 23 start-page: 3362 year: 2014 ident: R90 article-title: Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects publication-title: Hum Mol Genet contributor: fullname: Mitchison – volume: 93 start-page: 357 year: 2013 ident: R71 article-title: ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry publication-title: Am J Hum Genet contributor: fullname: Omran – year: 2014 ident: R73 article-title: Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia publication-title: Hum Mutat contributor: fullname: Day – volume: 19 start-page: 4319 year: 2008 ident: R3 article-title: A protein methylation pathway in Chlamydomonas flagella is active during flagellar resorption publication-title: Mol Biol Cell contributor: fullname: Sloboda – volume: 89 start-page: S45 issue: (Suppl 3) year: 2013 ident: R27 article-title: Up to date on primary ciliary dyskinesia in children publication-title: Early Hum Dev contributor: fullname: Saggese – volume: 2 start-page: 14 year: 2013 ident: R4 article-title: New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas publication-title: Cilia contributor: fullname: Dutcher – volume: 69 start-page: 2101 year: 2012 ident: R16 article-title: The primary cilium as a dual sensor of mechanochemical signals in chondrocytes publication-title: Cell Mol Life Sci contributor: fullname: Ornan – volume: 22 start-page: 2520 year: 2011 ident: R22 article-title: The CSC is required for complete radial spoke assembly and wild-type ciliary motility publication-title: Mol Biol Cell contributor: fullname: Smith – volume: 51 start-page: 4029 year: 2013 ident: R39 article-title: Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia publication-title: J Clin Microbiol contributor: fullname: Lucas – volume: 115 start-page: 2814 year: 2007 ident: R33 article-title: Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia publication-title: Circulation contributor: fullname: Knowles – volume: 92 start-page: 88 year: 2013 ident: R69 article-title: Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Mitchison – volume: 120 start-page: 3653 issue: (Pt 20) year: 2007 ident: R2 article-title: Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor publication-title: J Cell Sci contributor: fullname: King – volume: 35 start-page: 1057 year: 2010 ident: R46 article-title: A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia publication-title: Eur Respir J contributor: fullname: Escudier – volume: 83 start-page: 489 year: 1933 ident: R29 article-title: Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus publication-title: Beiträge zur Klinik der Tuberkulose contributor: fullname: Kartagener – volume: 11 start-page: 33 year: 2013 ident: R6 article-title: The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone publication-title: Reprod Biol Endocrinol contributor: fullname: Larsson – volume: 104 start-page: 3336 year: 2007 ident: R66 article-title: A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia publication-title: Proc Natl Acad Sci USA contributor: fullname: Amselem – volume: 84 start-page: 197 year: 2009 ident: R87 article-title: Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause PCD with central-microtubular-pair abnormalities publication-title: AJHG contributor: fullname: Mitchison – volume: 69 start-page: 423 year: 2007 ident: R49 article-title: Genetic defects in ciliary structure and function publication-title: Annu Rev Physiol contributor: fullname: Omran – volume: 52 start-page: 368 year: 1990 ident: R51 article-title: Ciliogenesis in cultured human nasal epithelium publication-title: ORL J Otorhinolaryngol Relat Spec contributor: fullname: Cassiman – volume: 30 start-page: 143 year: 2002 ident: R42 article-title: Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry publication-title: Nat Genet contributor: fullname: Omran – volume: 33 start-page: 41 year: 2005 ident: R65 article-title: Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients publication-title: Am J Respir Cell Mol Biol contributor: fullname: Omran – volume: 19 start-page: 3724 year: 2008 ident: R99 article-title: Three members of the LC8/DYNLL family are required for outer arm dynein motor function publication-title: Mol Biol Cell contributor: fullname: King – volume: 19 start-page: 110 year: 2006 ident: R37 article-title: Ciliary function and the role of cilia in clearance publication-title: J Aerosol Med contributor: fullname: O'Callaghan – volume: 51 start-page: 61 year: 2014 ident: R70 article-title: Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm publication-title: J Med Genet contributor: fullname: Mitchison – volume: 9 start-page: 1 year: 2014 ident: R38 article-title: Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure publication-title: Orphanet J Rare Dis contributor: fullname: De Boeck – volume: 45 start-page: 995 year: 2013 ident: R77 article-title: DYX1C1 is required for axonemal dynein assembly and ciliary motility publication-title: Nat Genet contributor: fullname: Omran – volume: 11 start-page: 1 year: 2010 ident: R63 article-title: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD) publication-title: Respir Res contributor: fullname: Witt – volume: 49 start-page: 410 year: 2011 ident: R84 article-title: Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia publication-title: J Med Genet contributor: fullname: Amselem – volume: 172 start-page: 417 year: 2008 ident: R15 article-title: Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1 publication-title: Am J Pathol contributor: fullname: Somlo – volume: 169 start-page: 459 year: 2004 ident: R31 article-title: Primary ciliary dyskinesia: diagnostic and phenotypic features publication-title: Am J Respir Crit Care Med contributor: fullname: Knowles – volume: 13 start-page: 700 year: 2010 ident: R5 article-title: Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus publication-title: Nat Neurosci contributor: fullname: Goffinet – volume: 34 start-page: 1352 year: 2013 ident: R94 article-title: Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia publication-title: Hum Mutat contributor: fullname: Zariwala – volume: 43 start-page: 326 year: 2006 ident: R58 article-title: RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa publication-title: J Med Genet contributor: fullname: Amselem – volume: 32 start-page: 5388 year: 2013 ident: R17 article-title: Primary cilia attenuate hedgehog signalling in neoplastic chondrocytes publication-title: Oncogene contributor: fullname: Alman – start-page: pii:erj00520–2014 year: 2014 ident: R61 article-title: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia publication-title: Eur Respir J contributor: fullname: Werner – volume: 91 start-page: 958 year: 2012 ident: R79 article-title: Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Amselem – volume: 188 start-page: 913 year: 2013 ident: R96 article-title: Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease publication-title: Am J Respir Crit Care Med contributor: fullname: Leigh – volume: 88 start-page: 599 year: 2011 ident: R67 article-title: Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1 publication-title: Am J Hum Genet contributor: fullname: Parvari – volume: 91 start-page: 685 year: 2012 ident: R78 article-title: Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Ferkol – volume: 85 start-page: 883 year: 2009 ident: R55 article-title: Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects publication-title: Am J Hum Genet contributor: fullname: Omran – volume: 187 start-page: 921 year: 2009 ident: R21 article-title: The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella publication-title: J Cell Biol contributor: fullname: Nicastro – volume: 43 start-page: 72 year: 2011 ident: R57 article-title: CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs publication-title: Nat Genet contributor: fullname: Amselem – volume: 83 start-page: 547 year: 2008 ident: R24 article-title: DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm publication-title: Am J Hum Genet contributor: fullname: Omran – volume: 43 start-page: 79 year: 2011 ident: R85 article-title: The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation publication-title: Nat Genet contributor: fullname: Burdine – volume: 181 start-page: 307 year: 2010 ident: R32 article-title: Diagnostic testing of patients suspected of primary ciliary dyskinesia publication-title: Am J Respir Crit Care Med contributor: fullname: O'Callaghan – volume: 29 start-page: 6 year: 2011 ident: R14 article-title: The role of cilia in the regulation of bile flow publication-title: Dig Dis contributor: fullname: Masyuk – volume: 48 start-page: 352 year: 2013 ident: R59 article-title: RPGR mutations might cause reduced orientation of respiratory cilia publication-title: Pediatr Pulmonol contributor: fullname: Witt – volume: 67 start-page: 433 year: 2012 ident: R41 article-title: Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure publication-title: Thorax contributor: fullname: Zariwala – volume: 10 start-page: 51 year: 2009 ident: R47 article-title: Ciliary defects and genetics of primary ciliary dyskinesia publication-title: Paediatr Respir Rev contributor: fullname: Amselem – volume: 510 start-page: 93 year: 2011 ident: R1 article-title: Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme publication-title: Arch Biochem Biophys contributor: fullname: Sale – volume: 23 start-page: 696 year: 2000 ident: R54 article-title: Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene publication-title: Am J Respir Cell Mol Biol contributor: fullname: Hildebrandt – volume: 36 start-page: 1248 year: 2010 ident: R25 article-title: Factors influencing age at diagnosis of primary ciliary dyskinesia in European children publication-title: Eur Respir J contributor: fullname: Barbato – volume: 93 start-page: 672 year: 2013 ident: R83 article-title: Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Hildebrandt – volume: 23 start-page: 111 year: 2012 ident: R100 article-title: Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella publication-title: Mol Biol Cell contributor: fullname: Nicastro – volume: 9 start-page: e89675 year: 2014 ident: R52 article-title: Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid publication-title: PLoS ONE contributor: fullname: Lucas – volume: 93 start-page: 711 year: 2013 ident: R82 article-title: Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms publication-title: Am J Hum Genet contributor: fullname: Zariwala – volume: 35 start-page: 1413 year: 2010 ident: R40 article-title: New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure publication-title: Eur Respir J contributor: fullname: Boner – volume: 23 start-page: 3143 year: 2012 ident: R23 article-title: The CSC connects three major axonemal complexes involved in dynein regulation publication-title: Mol Biol Cell contributor: fullname: Nicastro – volume: 268 start-page: 383 year: 2011 ident: R35 article-title: ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities publication-title: Eur Arch Otorhinolaryngol contributor: fullname: Stuck – volume: 170 start-page: 103 year: 2005 article-title: Proteomic analysis of a eukaryotic cilium publication-title: J Cell Biol contributor: fullname: Witman – volume: 94 start-page: 95 year: 2014 article-title: Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella publication-title: Am J Hum Genet contributor: fullname: Ray – volume: 43 start-page: 79 year: 2011 article-title: The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation publication-title: Nat Genet contributor: fullname: Burdine – volume: 88 start-page: 599 year: 2011 article-title: Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1 publication-title: Am J Hum Genet contributor: fullname: Parvari – volume: 17 start-page: 761 year: 2010 article-title: Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis publication-title: Nat Struct Mol Biol contributor: fullname: Ishikawa – volume: 84 start-page: 197 year: 2009 article-title: Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause PCD with central-microtubular-pair abnormalities publication-title: AJHG contributor: fullname: Mitchison – volume: 22 start-page: 2520 year: 2011 article-title: The CSC is required for complete radial spoke assembly and wild-type ciliary motility publication-title: Mol Biol Cell contributor: fullname: Smith – volume: 169 start-page: 459 year: 2004 article-title: Primary ciliary dyskinesia: diagnostic and phenotypic features publication-title: Am J Respir Crit Care Med contributor: fullname: Knowles – volume: 23 start-page: 111 year: 2012 article-title: Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella publication-title: Mol Biol Cell contributor: fullname: Nicastro – volume: 174 start-page: 120 year: 2006 article-title: DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects publication-title: Am J Respir Crit Care Med contributor: fullname: Omran – volume: 2 start-page: 14 year: 2013 article-title: New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas publication-title: Cilia contributor: fullname: Dutcher – volume: 23 start-page: 3143 year: 2012 article-title: The CSC connects three major axonemal complexes involved in dynein regulation publication-title: Mol Biol Cell contributor: fullname: Nicastro – volume: 11 start-page: 1 year: 2010 article-title: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD) publication-title: Respir Res contributor: fullname: Witt – volume: 92 start-page: 99 year: 2013 article-title: Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Zariwala – volume: 172 start-page: 417 year: 2008 article-title: Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1 publication-title: Am J Pathol contributor: fullname: Somlo – volume: 181 start-page: 307 year: 2010 article-title: Diagnostic testing of patients suspected of primary ciliary dyskinesia publication-title: Am J Respir Crit Care Med contributor: fullname: O'Callaghan – volume: 91 start-page: 667 year: 2002 article-title: Primary ciliary dyskinesia: age at diagnosis and symptom history publication-title: Acta Paediatr contributor: fullname: Bush – volume: 91 start-page: 672 year: 2012 article-title: Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry publication-title: Am J Hum Genet contributor: fullname: Omran – volume: 338 start-page: 226 year: 2012 article-title: Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2 publication-title: Science contributor: fullname: Hamada – volume: 33 start-page: 41 year: 2005 article-title: Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients publication-title: Am J Respir Cell Mol Biol contributor: fullname: Omran – year: 2014 article-title: Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia publication-title: Hum Mutat contributor: fullname: Day – volume: 83 start-page: 547 year: 2008 article-title: DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm publication-title: Am J Hum Genet contributor: fullname: Omran – volume: 51 start-page: 61 year: 2014 article-title: Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm publication-title: J Med Genet contributor: fullname: Mitchison – volume: 35 start-page: 1057 year: 2010 article-title: A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia publication-title: Eur Respir J contributor: fullname: Escudier – volume: 45 start-page: 995 year: 2013 article-title: DYX1C1 is required for axonemal dynein assembly and ciliary motility publication-title: Nat Genet contributor: fullname: Omran – volume: 7 start-page: e33667 year: 2012 article-title: Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients publication-title: PLoS ONE contributor: fullname: Witt – volume: 510 start-page: 93 year: 2011 article-title: Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme publication-title: Arch Biochem Biophys contributor: fullname: Sale – volume: 83 start-page: 489 year: 1933 article-title: Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus publication-title: Beiträge zur Klinik der Tuberkulose contributor: fullname: Kartagener – volume: 43 start-page: 72 year: 2011 article-title: CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs publication-title: Nat Genet contributor: fullname: Amselem – volume: 91 start-page: 958 year: 2012 article-title: Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Amselem – start-page: pii:erj00520–2014 year: 2014 article-title: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia publication-title: Eur Respir J contributor: fullname: Werner – volume: 41 start-page: 139 year: 1904 article-title: Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum publication-title: Berliner klinische Wochenschrift contributor: fullname: Sievert – volume: 93 start-page: 357 year: 2013 article-title: ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry publication-title: Am J Hum Genet contributor: fullname: Omran – volume: 89 start-page: S45 issue: (Suppl 3) year: 2013 article-title: Up to date on primary ciliary dyskinesia in children publication-title: Early Hum Dev contributor: fullname: Saggese – volume: 51 start-page: 4029 year: 2013 article-title: Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia publication-title: J Clin Microbiol contributor: fullname: Lucas – volume: 29 start-page: 6 year: 2011 article-title: The role of cilia in the regulation of bile flow publication-title: Dig Dis contributor: fullname: Masyuk – volume: 99 start-page: 850 year: 2014 article-title: Diagnosis and management of primary ciliary dyskinesia publication-title: Arch Dis Child contributor: fullname: Hogg – volume: 115 start-page: 2814 year: 2007 article-title: Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia publication-title: Circulation contributor: fullname: Knowles – volume: 91 start-page: 685 year: 2012 article-title: Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Ferkol – volume: 46 start-page: 646 year: 2014 article-title: Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia publication-title: Nat Genet contributor: fullname: Omran – volume: 52 start-page: 368 year: 1990 article-title: Ciliogenesis in cultured human nasal epithelium publication-title: ORL J Otorhinolaryngol Relat Spec contributor: fullname: Cassiman – volume: 45 start-page: 262 year: 2013 article-title: The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans publication-title: Nat Genet contributor: fullname: Omran – volume: 120 start-page: 3653 issue: (Pt 20) year: 2007 article-title: Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor publication-title: J Cell Sci contributor: fullname: King – volume: 48 start-page: 352 year: 2013 article-title: RPGR mutations might cause reduced orientation of respiratory cilia publication-title: Pediatr Pulmonol contributor: fullname: Witt – year: 2014 article-title: ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies publication-title: Pediatr Nephrol contributor: fullname: Bergmann – volume: 93 start-page: 346 year: 2013 article-title: Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Mitchison – volume: 21 start-page: 5174 year: 2012 article-title: FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies publication-title: Hum Mol Genet contributor: fullname: Rivolta – volume: 104 start-page: 3336 year: 2007 article-title: A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia publication-title: Proc Natl Acad Sci USA contributor: fullname: Amselem – volume: 65 start-page: 1508 year: 1999 article-title: Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Duriez – volume: 67 start-page: 433 year: 2012 article-title: Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure publication-title: Thorax contributor: fullname: Zariwala – volume: 85 start-page: 890 year: 2009 article-title: Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Amselem – volume: 19 start-page: 4319 year: 2008 article-title: A protein methylation pathway in Chlamydomonas flagella is active during flagellar resorption publication-title: Mol Biol Cell contributor: fullname: Sloboda – volume: 38 start-page: 248 year: 2013 article-title: A new tool improves diagnostic test performance for transmission EM evaluation of axonemal dynein arms publication-title: Ultrasrtuct Pathol contributor: fullname: Funkhouser – volume: 188 start-page: 913 year: 2013 article-title: Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease publication-title: Am J Respir Crit Care Med contributor: fullname: Leigh – volume: 93 start-page: 561 year: 2013 article-title: Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects publication-title: Am J Hum Genet contributor: fullname: Amselem – volume: 93 start-page: 336 year: 2013 article-title: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 publication-title: Am J Hum Genet contributor: fullname: Hildebrandt – volume: 9 start-page: e89675 year: 2014 article-title: Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid publication-title: PLoS ONE contributor: fullname: Lucas – volume: 69 start-page: 577 year: 2012 article-title: Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure publication-title: Cytoskeleton (Hoboken) contributor: fullname: Ostrowski – volume: 36 start-page: 1248 year: 2010 article-title: Factors influencing age at diagnosis of primary ciliary dyskinesia in European children publication-title: Eur Respir J contributor: fullname: Barbato – volume: 93 start-page: 672 year: 2013 article-title: Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Hildebrandt – volume: 13 start-page: 700 year: 2010 article-title: Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus publication-title: Nat Neurosci contributor: fullname: Goffinet – start-page: e50038 issue: 10 year: 2013 article-title: Analysis of gene function and visualization of cilia-generated fluid flow in Kupffer's vesicle publication-title: J Vis Exp contributor: fullname: Amack – volume: 11 start-page: 33 year: 2013 article-title: The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone publication-title: Reprod Biol Endocrinol contributor: fullname: Larsson – year: 2014 article-title: Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy publication-title: Chest contributor: fullname: Leigh – volume: 69 start-page: 2101 year: 2012 article-title: The primary cilium as a dual sensor of mechanochemical signals in chondrocytes publication-title: Cell Mol Life Sci contributor: fullname: Ornan – volume: 19 start-page: 3724 year: 2008 article-title: Three members of the LC8/DYNLL family are required for outer arm dynein motor function publication-title: Mol Biol Cell contributor: fullname: King – volume: 112 start-page: 518 year: 2003 article-title: Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia publication-title: J Allergy Clin Immunol contributor: fullname: O'Callaghan – volume: 174 start-page: 858 year: 2006 article-title: Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation publication-title: Am J Respir Crit Care Med contributor: fullname: Knowles – volume: 19 start-page: 492 year: 2012 article-title: Insights into dynein motor domain function from a 3.3-Å crystal structure publication-title: Nat Struct Mol Biol contributor: fullname: Carter – volume: 23 start-page: 696 year: 2000 article-title: Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene publication-title: Am J Respir Cell Mol Biol contributor: fullname: Hildebrandt – volume: 187 start-page: 921 year: 2009 article-title: The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella publication-title: J Cell Biol contributor: fullname: Nicastro – volume: 93 start-page: 711 year: 2013 article-title: Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms publication-title: Am J Hum Genet contributor: fullname: Zariwala – volume: 46 start-page: 73 year: 2013 article-title: Mouse models of polycystic kidney disease induced by defects of ciliary proteins publication-title: BMB Rep contributor: fullname: Park – volume: 193 start-page: 317 year: 1976 article-title: A human syndrome caused by immotile cilia publication-title: Science contributor: fullname: Afzelius – volume: 10 start-page: 51 year: 2009 article-title: Ciliary defects and genetics of primary ciliary dyskinesia publication-title: Paediatr Respir Rev contributor: fullname: Amselem – volume: 92 start-page: 88 year: 2013 article-title: Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia publication-title: Am J Hum Genet contributor: fullname: Mitchison – volume: 120 start-page: 171 year: 2006 article-title: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome publication-title: Hum Genet contributor: fullname: Ropers – volume: 23 start-page: 3362 year: 2014 article-title: Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects publication-title: Hum Mol Genet contributor: fullname: Mitchison – volume: 456 start-page: 611 year: 2008 article-title: Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins publication-title: Nature contributor: fullname: Takeda – volume: 44 start-page: 381 year: 2012 article-title: Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia publication-title: Nat Genet contributor: fullname: Mitchell – volume: 33 start-page: 495 year: 2012 article-title: Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD publication-title: Hum Mutat contributor: fullname: Lackie – volume: 189 start-page: 707 year: 2014 article-title: Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype publication-title: Am J Respir Crit Care Med contributor: fullname: Zariwala – volume: 91 start-page: 123 year: 2009 article-title: Immunofluorescence staining of ciliated respiratory epithelial cells publication-title: Methods Cell Biol contributor: fullname: Loges – volume: 19 start-page: 110 year: 2006 article-title: Ciliary function and the role of cilia in clearance publication-title: J Aerosol Med contributor: fullname: O'Callaghan – volume: 95 start-page: 257 year: 2014 article-title: CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation publication-title: Am J Hum Genet contributor: fullname: Mitchison – volume: 49 start-page: 410 year: 2011 article-title: Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia publication-title: J Med Genet contributor: fullname: Amselem – volume: 35 start-page: 1413 year: 2010 article-title: New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure publication-title: Eur Respir J contributor: fullname: Boner – volume: 34 start-page: 1264 year: 2009 article-title: Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children publication-title: Eur Respir J contributor: fullname: Bush – volume: 23 start-page: 329 year: 2012 article-title: Kinocilia mediate mechanosensitivity in developing zebrafish hair cells publication-title: Dev Cell contributor: fullname: Nicolson – volume: 34 start-page: 1352 year: 2013 article-title: Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia publication-title: Hum Mutat contributor: fullname: Zariwala – volume: 268 start-page: 383 year: 2011 article-title: ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities publication-title: Eur Arch Otorhinolaryngol contributor: fullname: Stuck – volume: 30 start-page: 143 year: 2002 article-title: Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry publication-title: Nat Genet contributor: fullname: Omran – volume: 76 start-page: 198 year: 2008 article-title: DNAI1 mutations explain only 2% of primary ciliary dykinesia publication-title: Respiration contributor: fullname: Blouin – volume: 85 start-page: 883 year: 2009 article-title: Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects publication-title: Am J Hum Genet contributor: fullname: Omran – volume: 69 start-page: 423 year: 2007 article-title: Genetic defects in ciliary structure and function publication-title: Annu Rev Physiol contributor: fullname: Omran – volume: 43 start-page: 326 year: 2006 article-title: RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa publication-title: J Med Genet contributor: fullname: Amselem – volume: 9 start-page: 1 year: 2014 article-title: Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure publication-title: Orphanet J Rare Dis contributor: fullname: De Boeck – volume: 10 start-page: 574 year: 2013 article-title: Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia publication-title: Ann Am Thorac Soc contributor: fullname: Knowles – volume: 8 start-page: e59436 year: 2013 article-title: LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects publication-title: PLoS ONE contributor: fullname: Kerem – volume: 44 start-page: 714 year: 2013 article-title: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms publication-title: Nat Genet contributor: fullname: Drummond – volume: 32 start-page: 5388 year: 2013 article-title: Primary cilia attenuate hedgehog signalling in neoplastic chondrocytes publication-title: Oncogene contributor: fullname: Alman – volume: 43 start-page: 79 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-85 article-title: The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation publication-title: Nat Genet doi: 10.1038/ng.727 contributor: fullname: Becker-Heck – volume: 52 start-page: 368 year: 1990 ident: key-10.1136/jmedgenet-2014-102755-51 article-title: Ciliogenesis in cultured human nasal epithelium publication-title: ORL J Otorhinolaryngol Relat Spec doi: 10.1159/000276166 contributor: fullname: Jorissen – volume: 21 start-page: 5174 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-18 article-title: FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies publication-title: Hum Mol Genet doi: 10.1093/hmg/dds368 contributor: fullname: Di Gioia – volume: 84 start-page: 197 year: 2009 ident: key-10.1136/jmedgenet-2014-102755-87 article-title: Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause PCD with central-microtubular-pair abnormalities publication-title: AJHG doi: 10.1016/j.ajhg.2009.01.011 contributor: fullname: Castleman – volume: 51 start-page: 4029 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-39 article-title: Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia publication-title: J Clin Microbiol doi: 10.1128/JCM.02164-13 contributor: fullname: Rogers – volume: 92 start-page: 88 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-69 article-title: Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.11.002 contributor: fullname: Onoufriadis – volume: 115 start-page: 2814 year: 2007 ident: key-10.1136/jmedgenet-2014-102755-33 article-title: Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.106.649038 contributor: fullname: Kennedy – volume: 174 start-page: 858 year: 2006 ident: key-10.1136/jmedgenet-2014-102755-62 article-title: Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.200603-370OC contributor: fullname: Zariwala – volume: 89 start-page: S45 issue: (Suppl 3) year: 2013 ident: key-10.1136/jmedgenet-2014-102755-27 article-title: Up to date on primary ciliary dyskinesia in children publication-title: Early Hum Dev doi: 10.1016/j.earlhumdev.2013.07.022 contributor: fullname: Pifferi – volume: 19 start-page: 492 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-20 article-title: Insights into dynein motor domain function from a 3.3-Å crystal structure publication-title: Nat Struct Mol Biol doi: 10.1038/nsmb.2272 contributor: fullname: Schmidt – volume: 83 start-page: 547 year: 2008 ident: key-10.1136/jmedgenet-2014-102755-24 article-title: DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2008.10.001 contributor: fullname: Loges – volume: 19 start-page: 110 year: 2006 ident: key-10.1136/jmedgenet-2014-102755-37 article-title: Ciliary function and the role of cilia in clearance publication-title: J Aerosol Med doi: 10.1089/jam.2006.19.110 contributor: fullname: Stannard – volume: 11 start-page: 33 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-6 article-title: The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone publication-title: Reprod Biol Endocrinol doi: 10.1186/1477-7827-11-33 contributor: fullname: Bylander – volume: 91 start-page: 958 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-79 article-title: Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.10.003 contributor: fullname: Kott – volume: 92 start-page: 99 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-68 article-title: Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.11.003 contributor: fullname: Knowles – volume: 169 start-page: 459 year: 2004 ident: key-10.1136/jmedgenet-2014-102755-31 article-title: Primary ciliary dyskinesia: diagnostic and phenotypic features publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.200303-365OC contributor: fullname: Noone – volume: 120 start-page: 3653 issue: (Pt 20) year: 2007 ident: key-10.1136/jmedgenet-2014-102755-2 article-title: Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor publication-title: J Cell Sci doi: 10.1242/jcs.012773 contributor: fullname: Rompolas – volume: 17 start-page: 761 year: 2010 ident: key-10.1136/jmedgenet-2014-102755-98 article-title: Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis publication-title: Nat Struct Mol Biol doi: 10.1038/nsmb.1832 contributor: fullname: Movassagh – volume: 43 start-page: 72 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-57 article-title: CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs publication-title: Nat Genet doi: 10.1038/ng.726 contributor: fullname: Merveille – volume: 93 start-page: 561 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-89 article-title: Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.07.013 contributor: fullname: Kott – volume: 76 start-page: 198 year: 2008 ident: key-10.1136/jmedgenet-2014-102755-64 article-title: DNAI1 mutations explain only 2% of primary ciliary dykinesia publication-title: Respiration doi: 10.1159/000128567 contributor: fullname: Failly – year: 2014 ident: key-10.1136/jmedgenet-2014-102755-73 article-title: Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia publication-title: Hum Mutat doi: 10.1002/humu.22698 contributor: fullname: Alsaadi – volume: 189 start-page: 707 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-91 article-title: Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.201311-2047OC contributor: fullname: Knowles – volume: 2 start-page: 14 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-4 article-title: New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas publication-title: Cilia doi: 10.1186/2046-2530-2-14 contributor: fullname: Lin – volume: 29 start-page: 6 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-14 article-title: The role of cilia in the regulation of bile flow publication-title: Dig Dis doi: 10.1159/000324121 contributor: fullname: Larusso – volume: 193 start-page: 317 year: 1976 ident: key-10.1136/jmedgenet-2014-102755-30 article-title: A human syndrome caused by immotile cilia publication-title: Science doi: 10.1126/science.1084576 contributor: fullname: Afzelius – volume: 35 start-page: 1413 year: 2010 ident: key-10.1136/jmedgenet-2014-102755-40 article-title: New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure publication-title: Eur Respir J doi: 10.1183/09031936.00186209 contributor: fullname: Pifferi – volume: 43 start-page: 326 year: 2006 ident: key-10.1136/jmedgenet-2014-102755-58 article-title: RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa publication-title: J Med Genet doi: 10.1136/jmg.2005.034868 contributor: fullname: Moore – volume: 88 start-page: 599 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-67 article-title: Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2011.03.018 contributor: fullname: Mazor – volume: 23 start-page: 329 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-11 article-title: Kinocilia mediate mechanosensitivity in developing zebrafish hair cells publication-title: Dev Cell doi: 10.1016/j.devcel.2012.05.022 contributor: fullname: Kindt – volume: 19 start-page: 3724 year: 2008 ident: key-10.1136/jmedgenet-2014-102755-99 article-title: Three members of the LC8/DYNLL family are required for outer arm dynein motor function publication-title: Mol Biol Cell doi: 10.1091/mbc.E08-04-0362 contributor: fullname: Tanner – start-page: e50038 issue: 10 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-10 article-title: Analysis of gene function and visualization of cilia-generated fluid flow in Kupffer's vesicle publication-title: J Vis Exp contributor: fullname: Wang – volume: 268 start-page: 383 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-35 article-title: ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities publication-title: Eur Arch Otorhinolaryngol doi: 10.1007/s00405-010-1341-9 contributor: fullname: Sommer – year: 2014 ident: key-10.1136/jmedgenet-2014-102755-12 article-title: ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies publication-title: Pediatr Nephrol contributor: fullname: Bergmann – volume: 34 start-page: 1352 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-94 article-title: Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia publication-title: Hum Mutat doi: 10.1002/humu.22371 contributor: fullname: Daniels – volume: 23 start-page: 3143 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-23 article-title: The CSC connects three major axonemal complexes involved in dynein regulation publication-title: Mol Biol Cell doi: 10.1091/mbc.E12-05-0357 contributor: fullname: Heuser – volume: 174 start-page: 120 year: 2006 ident: key-10.1136/jmedgenet-2014-102755-43 article-title: DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.200601-084OC contributor: fullname: Hornef – volume: 104 start-page: 3336 year: 2007 ident: key-10.1136/jmedgenet-2014-102755-66 article-title: A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.0611405104 contributor: fullname: Duriez – volume: 95 start-page: 257 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-72 article-title: CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2014.08.005 contributor: fullname: Hjeij – volume: 46 start-page: 73 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-13 article-title: Mouse models of polycystic kidney disease induced by defects of ciliary proteins publication-title: BMB Rep doi: 10.5483/BMBRep.2013.46.2.022 contributor: fullname: Ko – volume: 93 start-page: 346 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-81 article-title: Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.07.009 contributor: fullname: Moore – volume: 94 start-page: 95 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-8 article-title: Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.11.017 contributor: fullname: Ben Khelifa – volume: 85 start-page: 883 year: 2009 ident: key-10.1136/jmedgenet-2014-102755-55 article-title: Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2009.10.018 contributor: fullname: Loges – volume: 85 start-page: 890 year: 2009 ident: key-10.1136/jmedgenet-2014-102755-56 article-title: Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2009.11.008 contributor: fullname: Duquesnoy – volume: 38 start-page: 248 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-48 article-title: A new tool improves diagnostic test performance for transmission EM evaluation of axonemal dynein arms publication-title: Ultrasrtuct Pathol doi: 10.3109/01913123.2013.815081 contributor: fullname: Funkhouser – volume: 338 start-page: 226 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-9 article-title: Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2 publication-title: Science doi: 10.1126/science.1222538 contributor: fullname: Yoshiba – volume: 32 start-page: 5388 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-17 article-title: Primary cilia attenuate hedgehog signalling in neoplastic chondrocytes publication-title: Oncogene doi: 10.1038/onc.2012.588 contributor: fullname: Ho – volume: 65 start-page: 1508 year: 1999 ident: key-10.1136/jmedgenet-2014-102755-53 article-title: Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1086/302683 contributor: fullname: Pennarun – volume: 93 start-page: 357 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-71 article-title: ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.06.009 contributor: fullname: Hjeij – volume: 44 start-page: 381 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-76 article-title: Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia publication-title: Nat Genet doi: 10.1038/ng.1106 contributor: fullname: Mitchison – volume: 41 start-page: 139 year: 1904 ident: key-10.1136/jmedgenet-2014-102755-28 article-title: Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum publication-title: Berliner klinische Wochenschrift contributor: fullname: Sievert – volume: 91 start-page: 123 year: 2009 ident: key-10.1136/jmedgenet-2014-102755-50 article-title: Immunofluorescence staining of ciliated respiratory epithelial cells publication-title: Methods Cell Biol doi: 10.1016/S0091-679X(08)91007-4 contributor: fullname: Omran – volume: 93 start-page: 672 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-83 article-title: Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.08.015 contributor: fullname: Austin-Tse – volume: 170 start-page: 103 year: 2005 ident: key-10.1136/jmedgenet-2014-102755-19 article-title: Proteomic analysis of a eukaryotic cilium publication-title: J Cell Biol doi: 10.1083/jcb.200504008 contributor: fullname: Pazour – volume: 23 start-page: 696 year: 2000 ident: key-10.1136/jmedgenet-2014-102755-54 article-title: Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene publication-title: Am J Respir Cell Mol Biol doi: 10.1165/ajrcmb.23.5.4257 contributor: fullname: Omran – volume: 91 start-page: 685 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-78 article-title: Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.08.022 contributor: fullname: Horani – volume: 11 start-page: 1 year: 2010 ident: key-10.1136/jmedgenet-2014-102755-63 article-title: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD) publication-title: Respir Res doi: 10.1186/1465-9921-11-174 contributor: fullname: Ziętkiewicz – year: 2014 ident: key-10.1136/jmedgenet-2014-102755-34 article-title: Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy publication-title: Chest doi: 10.1378/chest.13-1704 contributor: fullname: Shapiro – volume: 83 start-page: 489 year: 1933 ident: key-10.1136/jmedgenet-2014-102755-29 article-title: Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus publication-title: Beiträge zur Klinik der Tuberkulose doi: 10.1007/BF02141468 contributor: fullname: Kartagener – volume: 45 start-page: 995 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-77 article-title: DYX1C1 is required for axonemal dynein assembly and ciliary motility publication-title: Nat Genet doi: 10.1038/ng.2707 contributor: fullname: Tarkar – volume: 49 start-page: 410 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-84 article-title: Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia publication-title: J Med Genet doi: 10.1136/jmedgenet-2012-100867 contributor: fullname: Blanchon – volume: 187 start-page: 921 year: 2009 ident: key-10.1136/jmedgenet-2014-102755-21 article-title: The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella publication-title: J Cell Biol doi: 10.1083/jcb.200908067 contributor: fullname: Heuser – volume: 8 start-page: e59436 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-80 article-title: LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects publication-title: PLoS ONE doi: 10.1371/journal.pone.0059436 contributor: fullname: Horani – volume: 69 start-page: 577 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-101 article-title: Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure publication-title: Cytoskeleton (Hoboken) doi: 10.1002/cm.21035 contributor: fullname: O'Toole – volume: 51 start-page: 61 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-70 article-title: Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm publication-title: J Med Genet doi: 10.1136/jmedgenet-2013-101938 contributor: fullname: Onoufriadis – volume: 93 start-page: 711 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-82 article-title: Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.07.025 contributor: fullname: Knowles – volume: 67 start-page: 433 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-41 article-title: Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure publication-title: Thorax doi: 10.1136/thoraxjnl-2011-200301 contributor: fullname: Knowles – volume: 30 start-page: 143 year: 2002 ident: key-10.1136/jmedgenet-2014-102755-42 article-title: Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry publication-title: Nat Genet doi: 10.1038/ng817 contributor: fullname: Olbrich – volume: 120 start-page: 171 year: 2006 ident: key-10.1136/jmedgenet-2014-102755-60 article-title: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome publication-title: Hum Genet doi: 10.1007/s00439-006-0210-5 contributor: fullname: Budny – volume: 44 start-page: 714 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-74 article-title: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms publication-title: Nat Genet doi: 10.1038/ng.2277 contributor: fullname: Panizzi – volume: 69 start-page: 423 year: 2007 ident: key-10.1136/jmedgenet-2014-102755-49 article-title: Genetic defects in ciliary structure and function publication-title: Annu Rev Physiol doi: 10.1146/annurev.physiol.69.040705.141301 contributor: fullname: Zariwala – volume: 10 start-page: 574 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-45 article-title: Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia publication-title: Ann Am Thorac Soc doi: 10.1513/AnnalsATS.201305-110OC contributor: fullname: Leigh – volume: 172 start-page: 417 year: 2008 ident: key-10.1136/jmedgenet-2014-102755-15 article-title: Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1 publication-title: Am J Pathol doi: 10.2353/ajpath.2008.070381 contributor: fullname: Gallagher – volume: 9 start-page: e89675 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-52 article-title: Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid publication-title: PLoS ONE doi: 10.1371/journal.pone.0089675 contributor: fullname: Hirst – volume: 9 start-page: 1 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-38 article-title: Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-9-11 contributor: fullname: Boon – volume: 35 start-page: 1057 year: 2010 ident: key-10.1136/jmedgenet-2014-102755-46 article-title: A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia publication-title: Eur Respir J doi: 10.1183/09031936.00046209 contributor: fullname: Papon – volume: 46 start-page: 646 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-44 article-title: Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia publication-title: Nat Genet doi: 10.1038/ng.2961 contributor: fullname: Wallmeier – volume: 99 start-page: 850 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-97 article-title: Diagnosis and management of primary ciliary dyskinesia publication-title: Arch Dis Child doi: 10.1136/archdischild-2013-304831 contributor: fullname: Lucas – volume: 456 start-page: 611 year: 2008 ident: key-10.1136/jmedgenet-2014-102755-75 article-title: Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins publication-title: Nature doi: 10.1038/nature07471 contributor: fullname: Omran – volume: 33 start-page: 41 year: 2005 ident: key-10.1136/jmedgenet-2014-102755-65 article-title: Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients publication-title: Am J Respir Cell Mol Biol doi: 10.1165/rcmb.2004-0335OC contributor: fullname: Horváth – volume: 23 start-page: 111 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-100 article-title: Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella publication-title: Mol Biol Cell doi: 10.1091/mbc.E11-08-0692 contributor: fullname: Barber – volume: 23 start-page: 3362 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-90 article-title: Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects publication-title: Hum Mol Genet doi: 10.1093/hmg/ddu046 contributor: fullname: Onoufriadis – volume: 7 start-page: e33667 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-88 article-title: Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients publication-title: PLoS ONE doi: 10.1371/journal.pone.0033667 contributor: fullname: Ziętkiewicz – volume: 10 start-page: 51 year: 2009 ident: key-10.1136/jmedgenet-2014-102755-47 article-title: Ciliary defects and genetics of primary ciliary dyskinesia publication-title: Paediatr Respir Rev doi: 10.1016/j.prrv.2009.02.001 contributor: fullname: Escudier – volume: 22 start-page: 2520 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-22 article-title: The CSC is required for complete radial spoke assembly and wild-type ciliary motility publication-title: Mol Biol Cell doi: 10.1091/mbc.E11-03-0271 contributor: fullname: Dymek – volume: 45 start-page: 262 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-86 article-title: The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans publication-title: Nat Genet doi: 10.1038/ng.2533 contributor: fullname: Wirschell – volume: 93 start-page: 336 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-7 article-title: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.06.007 contributor: fullname: Zariwala – start-page: pii:erj00520–2014 year: 2014 ident: key-10.1136/jmedgenet-2014-102755-61 article-title: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia publication-title: Eur Respir J contributor: fullname: Raidt – volume: 69 start-page: 2101 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-16 article-title: The primary cilium as a dual sensor of mechanochemical signals in chondrocytes publication-title: Cell Mol Life Sci doi: 10.1007/s00018-011-0911-3 contributor: fullname: Muhammad – volume: 112 start-page: 518 year: 2003 ident: key-10.1136/jmedgenet-2014-102755-93 article-title: Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia publication-title: J Allergy Clin Immunol doi: 10.1016/S0091-6749(03)01799-8 contributor: fullname: Chilvers – volume: 19 start-page: 4319 year: 2008 ident: key-10.1136/jmedgenet-2014-102755-3 article-title: A protein methylation pathway in Chlamydomonas flagella is active during flagellar resorption publication-title: Mol Biol Cell doi: 10.1091/mbc.E08-05-0470 contributor: fullname: Schneider – volume: 91 start-page: 667 year: 2002 ident: key-10.1136/jmedgenet-2014-102755-36 article-title: Primary ciliary dyskinesia: age at diagnosis and symptom history publication-title: Acta Paediatr doi: 10.1111/j.1651-2227.2002.tb03299.x contributor: fullname: Coren – volume: 510 start-page: 93 year: 2011 ident: key-10.1136/jmedgenet-2014-102755-1 article-title: Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme publication-title: Arch Biochem Biophys doi: 10.1016/j.abb.2011.04.003 contributor: fullname: Wirschell – volume: 36 start-page: 1248 year: 2010 ident: key-10.1136/jmedgenet-2014-102755-25 article-title: Factors influencing age at diagnosis of primary ciliary dyskinesia in European children publication-title: Eur Respir J doi: 10.1183/09031936.00001010 contributor: fullname: Kuehni – volume: 13 start-page: 700 year: 2010 ident: key-10.1136/jmedgenet-2014-102755-5 article-title: Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus publication-title: Nat Neurosci doi: 10.1038/nn.2555 contributor: fullname: Tissir – volume: 33 start-page: 495 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-95 article-title: Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD publication-title: Hum Mutat doi: 10.1002/humu.22001 contributor: fullname: Lucas – volume: 188 start-page: 913 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-96 article-title: Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.201301-0059CI contributor: fullname: Knowles – volume: 48 start-page: 352 year: 2013 ident: key-10.1136/jmedgenet-2014-102755-59 article-title: RPGR mutations might cause reduced orientation of respiratory cilia publication-title: Pediatr Pulmonol doi: 10.1002/ppul.22632 contributor: fullname: Bukowy-Bieryłło – volume: 181 start-page: 307 year: 2010 ident: key-10.1136/jmedgenet-2014-102755-32 article-title: Diagnostic testing of patients suspected of primary ciliary dyskinesia publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.200903-0459OC contributor: fullname: Stannard – volume: 34 start-page: 1264 year: 2009 ident: key-10.1136/jmedgenet-2014-102755-26 article-title: Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children publication-title: Eur Respir J doi: 10.1183/09031936.00176608 contributor: fullname: Barbato – volume: 91 start-page: 672 year: 2012 ident: key-10.1136/jmedgenet-2014-102755-92 article-title: Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.08.016 contributor: fullname: Olbrich |
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| SubjectTerms | Axonemal Dyneins - genetics Axonemal Dyneins - metabolism Axoneme - ultrastructure Cell biology Cilia Cilia - physiology Cilia - ultrastructure Diagnosis Diagnostics Dyskinesia Genetic screening Genetic Testing - methods Genetics Humans Infertility Kartagener Syndrome - diagnosis Kartagener Syndrome - genetics Kartagener Syndrome - pathology Lung diseases Microscopy Microscopy, Electron, Transmission Molecular genetics Phenotypes Primary ciliary dyskinesia Proteins Reproductive system Review Sinusitis Sperm Streptococcus infections Structure-function relationships Ultrastructure Whole genome sequencing |
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