Axonemal structures reveal mechanoregulatory and disease mechanisms
Walton, Travis, Gui, Miao, Velkova, Simona, Fassad, Mahmoud R., Hirst, Robert A., Haarman, Eric, O’Callaghan, Christopher, Bottier, Mathieu, Burgoyne, Thomas, Mitchison, Hannah M., Brown, Alan
Published in Nature (London) (15.06.2023)
Published in Nature (London) (15.06.2023)
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
Fassad, Mahmoud R., Shoemark, Amelia, Legendre, Marie, Hirst, Robert A., Koll, France, le Borgne, Pierrick, Louis, Bruno, Daudvohra, Farheen, Patel, Mitali P., Thomas, Lucie, Dixon, Mellisa, Burgoyne, Thomas, Hayes, Joseph, Nicholson, Andrew G., Cullup, Thomas, Jenkins, Lucy, Carr, Siobhán B., Aurora, Paul, Lemullois, Michel, Aubusson-Fleury, Anne, Papon, Jean-François, O’Callaghan, Christopher, Amselem, Serge, Hogg, Claire, Escudier, Estelle, Tassin, Anne-Marie, Mitchison, Hannah M.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman, Andrew, Thompson, James, Jenkins, Lucy, Aurora, Paul, Moya, Eduardo, Chetcuti, Philip, O'Callaghan, Chris, Morris-Rosendahl, Deborah J, Watson, Christopher M., Wilson, Robert, Carr, Siobhan, Walker, Woolf, Pitno, Andreia, Lopes, Susana, Morsy, Heba, Shoman, Walaa, Pereira, Luisa, Constant, Carolina, Loebinger, Michael R., Chung, Eddie M.K., Kenia, Priti, Rumman, Nisreen, Fasseeh, Nader, Lucas, Jane S., Hogg, Claire, Mitchison, Hannah M.
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
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DYX1C1 is required for axonemal dynein assembly and ciliary motility
Tarkar, Aarti, Loges, Niki T, Slagle, Christopher E, Francis, Richard, Dougherty, Gerard W, Tamayo, Joel V, Shook, Brett, Cantino, Marie, Schwartz, Daniel, Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Abouhamed, Marouan, Hjeij, Rim, Köhler, Gabriele, Griese, Matthias, Li, You, Lemke, Kristi, Klena, Nikolas, Liu, Xiaoqin, Gabriel, George, Tobita, Kimimasa, Jaspers, Martine, Morgan, Lucy C, Shapiro, Adam J, Letteboer, Stef J F, Mans, Dorus A, Carson, Johnny L, Leigh, Margaret W, Wolf, Whitney E, Chen, Serafine, Lucas, Jane S, Onoufriadis, Alexandros, Plagnol, Vincent, Schmidts, Miriam, Boldt, Karsten, Roepman, Ronald, Zariwala, Maimoona A, Lo, Cecilia W, Mitchison, Hannah M, Knowles, Michael R, Burdine, Rebecca D, LoTurco, Joseph J, Omran, Heymut
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Panizzi, Jennifer R, Becker-Heck, Anita, Castleman, Victoria H, Al-Mutairi, Dalal A, Liu, Yan, Loges, Niki T, Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D, Schier, Alexander F, O'Callaghan, Christopher, Chung, Eddie M K, Reinhardt, Richard, Mitchison, Hannah M, King, Stephen M, Omran, Heymut, Drummond, Iain A
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
Shaheen, Ranad, Schmidts, Miriam, Faqeih, Eissa, Hashem, Amal, Lausch, Ekkehart, Holder, Isabel, Superti-Furga, Andrea, Mitchison, Hannah M, Almoisheer, Agaadir, Alamro, Rana, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L, Alkuraya, Fowzan S
Published in Human molecular genetics (01.03.2015)
Published in Human molecular genetics (01.03.2015)
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
Lee, Dani Do Hyang, Cardinale, Daniela, Nigro, Ersilia, Butler, Colin R, Rutman, Andrew, Fassad, Mahmoud R, Hirst, Robert A, Moulding, Dale, Agrotis, Alexander, Forsythe, Elisabeth, Peckham, Daniel, Robson, Evie, Smith, Claire M, Somavarapu, Satyanarayana, Beales, Philip L, Hart, Stephen L, Janes, Sam M, Mitchison, Hannah M, Ketteler, Robin, Hynds, Robert E, O'Callaghan, Christopher
Published in The European respiratory journal (01.10.2021)
Published in The European respiratory journal (01.10.2021)
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Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, Duncan, Emma L., Mitchison, Hannah M.
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Journal Article
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J
Published in PLoS genetics (14.06.2023)
Published in PLoS genetics (14.06.2023)
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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
Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A, Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L, Hogg, Claire, Yang, Pinfen, Chung, Eddie M K, Emes, Richard D, O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M
Published in Human molecular genetics (01.07.2014)
Published in Human molecular genetics (01.07.2014)
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