Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Journal Article
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
Aprea, Isabella, Nöthe-Menchen, Tabea, Dougherty, Gerard W, Raidt, Johanna, Loges, Niki T, Kaiser, Thomas, Wallmeier, Julia, Olbrich, Heike, Strünker, Timo, Kliesch, Sabine, Pennekamp, Petra, Omran, Heymut
Published in Molecular human reproduction (27.02.2021)
Published in Molecular human reproduction (27.02.2021)
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Journal Article
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
RAIDT, Johanna, WALLMEIER, Julia, WERNER, Claudius, HJEIJ, Rim, ONNEBRINK, Jörg Grosse, PENNEKAMP, Petra, LOGES, Niki T, OLBRICH, Heike, HÄFFNER, Karsten, DOUGHERTY, Gerard W, OMRAN, Heymut
Published in The European respiratory journal (01.12.2014)
Published in The European respiratory journal (01.12.2014)
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Journal Article
SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
Cindrić, Sandra, Dougherty, Gerard W, Olbrich, Heike, Hjeij, Rim, Loges, Niki Tomas, Amirav, Israel, Philipsen, Maria C, Marthin, June K, Nielsen, Kim G, Sutharsan, Sivagurunathan, Raidt, Johanna, Werner, Claudius, Pennekamp, Petra, Dworniczak, Bernd, Omran, Heymut
Published in American journal of respiratory cell and molecular biology (01.03.2020)
Published in American journal of respiratory cell and molecular biology (01.03.2020)
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Journal Article
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Wallmeier, Julia, Shiratori, Hidetaka, Dougherty, Gerard W., Edelbusch, Christine, Hjeij, Rim, Loges, Niki T., Menchen, Tabea, Olbrich, Heike, Pennekamp, Petra, Raidt, Johanna, Werner, Claudius, Minegishi, Katsura, Shinohara, Kyosuke, Asai, Yasuko, Takaoka, Katsuyoshi, Lee, Chanjae, Griese, Matthias, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Wallingford, John B., Hamada, Hiroshi, Omran, Heymut
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Ciliary function and motor protein composition of human fallopian tubes
Raidt, Johanna, Werner, Claudius, Menchen, Tabea, Dougherty, Gerard W., Olbrich, Heike, Loges, Niki T., Schmitz, Ralf, Pennekamp, Petra, Omran, Heymut
Published in Human reproduction (Oxford) (01.12.2015)
Published in Human reproduction (Oxford) (01.12.2015)
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Journal Article
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W, Abu Zahira, Ibrahim, Letteboer, Stef J F, Antony, Dinu, Darwish, Alaa, Mans, Dorus A, Spittler, Sabrina, Edelbusch, Christine, Cindrić, Sandra, Nöthe-Menchen, Tabea, Olbrich, Heike, Stuhlmann, Friederike, Aprea, Isabella, Pennekamp, Petra, Loges, Niki T, Breuer, Oded, Shaag, Avraham, Rein, Azaria J J T, Gulec, Elif Yilmaz, Gezdirici, Alper, Abitbul, Revital, Elias, Nael, Amirav, Israel, Schmidts, Miriam, Roepman, Ronald, Elpeleg, Orly, Omran, Heymut
Published in PLoS genetics (27.08.2018)
Published in PLoS genetics (27.08.2018)
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Journal Article
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Journal Article
Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study
Radine, Andrea, Werner, Claudius, Raidt, Johanna, Dougherty, Gerard W., Kerschke, Laura, Omran, Heymut, Grosse-Onnebrink, Joerg
Published in Respiration (01.01.2019)
Published in Respiration (01.01.2019)
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Journal Article
Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments
Yengo, Christopher M, Kachar, Bechara, Merritt, Raymond C, Sousa, Aurea D, Salles, Felipe T, Manor, Uri, Dougherty, Gerard W, Moore, Judy E, Dosé, Andréa C
Published in Nature cell biology (01.04.2009)
Published in Nature cell biology (01.04.2009)
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Journal Article
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Nöthe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhán B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmüller, Janine, Krenz, Henrike, Wöste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J., Omran, Heymut
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Paff, Tamara, Loges, Niki T., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Haarman, Eric G., Daniels, Johannes M.A., Sistermans, Erik A., Bogunovic, Natalija, Dougherty, Gerard W., Höben, Inga M., Große-Onnebrink, Jörg, Matter, Anja, Olbrich, Heike, Werner, Claudius, Pals, Gerard, Schmidts, Miriam, Omran, Heymut, Micha, Dimitra
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways
Sigg, Monika Abedin, Menchen, Tabea, Lee, Chanjae, Johnson, Jeffery, Jungnickel, Melissa K., Choksi, Semil P., Garcia, Galo, Busengdal, Henriette, Dougherty, Gerard W., Pennekamp, Petra, Werner, Claudius, Rentzsch, Fabian, Florman, Harvey M., Krogan, Nevan, Wallingford, John B., Omran, Heymut, Reiter, Jeremy F.
Published in Developmental cell (18.12.2017)
Published in Developmental cell (18.12.2017)
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Journal Article
Pathogenic variants in CFAP46 , CFAP54 , CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus
Wohlgemuth, Kai, Hoersting, Niklas, Koenig, Julia, Loges, Niki Tomas, Raidt, Johanna, George, Sebastian, Cindrić, Sandra, Schramm, Andre, Biebach, Luisa, Lay, Simon, Dougherty, Gerard W, Olbrich, Heike, Pennekamp, Petra, Dworniczak, Bernd, Omran, Heymut
Published in The European respiratory journal (12.12.2024)
Published in The European respiratory journal (12.12.2024)
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Journal Article
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
Boon, Mieke, Wallmeier, Julia, Ma, Lina, Loges, Niki Tomas, Jaspers, Martine, Olbrich, Heike, Dougherty, Gerard W., Raidt, Johanna, Werner, Claudius, Amirav, Israel, Hevroni, Avigdor, Abitbul, Revital, Avital, Avraham, Soferman, Ruth, Wessels, Marja, O’Callaghan, Christopher, Chung, Eddie M. K., Rutman, Andrew, Hirst, Robert A., Moya, Eduardo, Mitchison, Hannah M., Van Daele, Sabine, De Boeck, Kris, Jorissen, Mark, Kintner, Chris, Cuppens, Harry, Omran, Heymut
Published in Nature communications (22.07.2014)
Published in Nature communications (22.07.2014)
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Journal Article
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect
Edelbusch, Christine, Cindrić, Sandra, Dougherty, Gerard W., Loges, Niki T., Olbrich, Heike, Rivlin, Joseph, Wallmeier, Julia, Pennekamp, Petra, Amirav, Israel, Omran, Heymut
Published in Human mutation (01.08.2017)
Published in Human mutation (01.08.2017)
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Journal Article
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
Wallmeier, Julia, Al-Mutairi, Dalal A, Chen, Chun-Ting, Loges, Niki Tomas, Pennekamp, Petra, Menchen, Tabea, Ma, Lina, Shamseldin, Hanan E, Olbrich, Heike, Dougherty, Gerard W, Werner, Claudius, Alsabah, Basel H, Köhler, Gabriele, Jaspers, Martine, Boon, Mieke, Griese, Matthias, Schmitt-Grohé, Sabina, Zimmermann, Theodor, Koerner-Rettberg, Cordula, Horak, Elisabeth, Kintner, Chris, Alkuraya, Fowzan S, Omran, Heymut
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Journal Article
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
Wallmeier, Julia, Bracht, Diana, Alsaif, Hessa S., Dougherty, Gerard W., Olbrich, Heike, Cindric, Sandra, Dzietko, Mark, Heyer, Christoph, Teig, Norbert, Thiels, Charlotte, Faqeih, Eissa, Al-Hashim, Aqeela, Khan, Sameena, Mogarri, Ibrahim, Almannai, Mohammed, Al Otaibi, Wadha, Alkuraya, Fowzan S., Koerner-Rettberg, Cordula, Omran, Heymut
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Journal Article
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure
Biebach, Luisa, Cindrić, Sandra, Koenig, Julia, Aprea, Isabella, Dougherty, Gerard W., Raidt, Johanna, Bracht, Diana, Ruppel, Renate, Schreiber, Jens, Hjeij, Rim, Olbrich, Heike, Omran, Heymut
Published in American journal of respiratory cell and molecular biology (01.09.2022)
Published in American journal of respiratory cell and molecular biology (01.09.2022)
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Journal Article
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Höben, Inga M., Hjeij, Rim, Olbrich, Heike, Dougherty, Gerard W., Nöthe-Menchen, Tabea, Aprea, Isabella, Frank, Diana, Pennekamp, Petra, Dworniczak, Bernd, Wallmeier, Julia, Raidt, Johanna, Nielsen, Kim G., Philipsen, Maria C., Santamaria, Francesca, Venditto, Laura, Amirav, Israel, Mussaffi, Huda, Prenzel, Freerk, Wu, Kaman, Bakey, Zeineb, Schmidts, Miriam, Loges, Niki T., Omran, Heymut
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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