نتائج البحث - Gerard W. Dougherty
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Mutation of <i>serine/threonine protein kinase 36</i> ( <i>STK36</i> ) causes primary ciliary dyskinesia with a central pair defect حسب Christine Edelbusch, Sandra Cindrić, Gerard W. Dougherty, Niki T. Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran
منشور في 2017Artigo -
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Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments حسب Felipe T. Salles, Raymond C. Merritt, Uri Manor, Gerard W. Dougherty, Aurea D. Sousa, Judy E. Moore, Christopher M. Yengo, Andrea C. Dosé, Bechara Kachar
منشور في 2009Carta -
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Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia حسب Johanna Raidt, Julia Wallmeier, Rim Hjeij, Jörg Große Onnebrink, Petra Pennekamp, Niki T. Loges, Heike Olbrich, Karsten Häffner, Gerard W. Dougherty, Heymut Omran, Claudius Werner
منشور في 2014Artigo -
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Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system حسب Isabella Aprea, Tabea Nöthe-Menchen, Gerard W. Dougherty, Johanna Raidt, Niki T. Loges, Thomas Kaiser, Julia Wallmeier, Heike Olbrich, Timo Strünker, Sabine Kliesch, Petra Pennekamp, Heymut Omran
منشور في 2021Artigo -
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Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility حسب Isabella Aprea, Alina Wilken, Claudia Krallmann, Tabea Nöthe-Menchen, Heike Olbrich, Niki T. Loges, Gerard W. Dougherty, Diana Bracht, Christoph Brenker, Sabine Kliesch, Timo Strünker, Frank Tüttelmann, Johanna Raidt, Heymut Omran
منشور في 2023Artigo -
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Systematic Analysis of<i>CCNO</i>Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis حسب Israel Amirav, Julia Wallmeier, Niki T. Loges, Tabea Menchen, Petra Pennekamp, Huda Mussaffi, Revital Abitbul, Avraham Avital, Lea Bentur, Gerard W. Dougherty, Nael Elias, Moran Lavie, Heike Olbrich, Claudius Werner, Chris Kintner, Heymut Omran
منشور في 2016Artigo -
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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex حسب Heike Olbrich, Carolin Cremers, Niki T. Loges, Claudius Werner, Kim G. Nielsen, June K. Marthin, Maria C. Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard W. Dougherty, Oliver Schwartz, Hölger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran
منشور في 2015Artigo -
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Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways حسب Monika Abedin Sigg, Tabea Menchen, Chanjae Lee, Jeffery R. Johnson, Melissa K. Jungnickel, Semil P. Choksi, Galo García, Henriette Busengdal, Gerard W. Dougherty, Petra Pennekamp, Claudius Werner, Fabian Rentzsch, Harvey M. Florman, Nevan J. Krogan, John B. Wallingford, Heymut Omran, Jeremy F. Reiter
منشور في 2017Artigo -
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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects حسب Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
منشور في 2016Artigo -
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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization حسب Julia Wallmeier, Hidetaka Shiratori, Gerard W. Dougherty, Christine Edelbusch, Rim Hjeij, Niki T. Loges, Tabea Menchen, Heike Olbrich, Petra Pennekamp, Johanna Raidt, Claudius Werner, Katsura Minegishi, Kyosuke Shinohara, Yasuko Asai, Katsuyoshi Takaoka, Chanjae Lee, Matthias Griese, Yasin Memari, Richard Durbin, Anja Kolb‐Kokocinski, Sascha Sauer, John B. Wallingford, Hiroshi Hamada, Heymut Omran
منشور في 2016Artigo -
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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms حسب Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran
منشور في 2018Artigo -
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A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance حسب Raghu R. Chivukula, Daniel T. Montoro, Hui Min Leung, Jason Yang, Hanan E. Shamseldin, Martin S. Taylor, Gerard W. Dougherty, Maimoona A. Zariwala, Johnny L. Carson, M. Leigh Anne Daniels, Patrick R. Sears, Katharine E. Black, Lida P. Hariri, Ibrahim Al‐Mogarri, Evgeni M. Frenkel, Vladimír Vinarský, Heymut Omran, Michael R. Knowles, Guillermo J. Tearney, Fowzan S. Alkuraya, David M. Sabatini
منشور في 2020Artigo -
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia حسب Mieke Boon, Julia Wallmeier, Lina Ma, Niki T. Loges, Martine Jaspers, Heike Olbrich, Gerard W. Dougherty, Johanna Raidt, Claudius Werner, Israel Amirav, Avigdor Hevroni, Revital Abitbul, Avraham Avital, Ruth Soferman, Marja W. Wessels, Christopher O’Callaghan, Eddie M.K. Chung, Andrew Rutman, Robert A. Hirst, Eduardo Moya, Hannah M. Mitchison, Sabine Van daele, K. De Boeck, Mark Jorissen, Chris Kintner, Harry Cuppens, Heymut Omran
منشور في 2014Artigo -
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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry حسب Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A. Zariwala, Xiaoqin Liu, You Li, Rama Rao Damerla, Gerard W. Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T. Loges, Petra Pennekamp, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehli̇van, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes‐Múgica, James R. Lupski, Margaret W. Leigh, Margaret Rosenfeld, Lucy Morgan, Michael R. Knowles, Cecilia W. Lo, Nicholas Katsanis, Heymut Omran
منشور في 2013Artigo -
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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes حسب Gerard W. Dougherty, Niki T. Loges, Judith A. Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea Menchen, Johanna Raidt, Julia Wallmeier, Claudius Werner, Cordula Westermann, Christian Rückert, Virginia Mirra, Rim Hjeij, Yasin Memari, Richard Durbin, Anja Kolb‐Kokocinski, Kavita Praveen, Mohammad Amin Kashef, Sara Kashef, Fardin Eghtedari, Karsten Häffner, Pekka Valmari, G Baktai, Micha Aviram, Lea Bentur, Israel Amirav, Erica E. Davis, Nicholas Katsanis, Martina Brueckner, Artem Shaposhnykov, Gaia Pigino, Bernd Dworniczak, Heymut Omran
منشور في 2016Artigo -
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility حسب Asaf Ta‐Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J.F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J.J.T. Rein, Elif Yılmaz Güleç, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
منشور في 2018Artigo -
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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry حسب Julia Wallmeier, Diana Frank, Amelia Shoemark, Tabea Nöthe-Menchen, Sandra Cindrić, Heike Olbrich, Niki T. Loges, Isabella Aprea, Gerard W. Dougherty, Petra Pennekamp, Thomas Kaiser, Hannah M. Mitchison, Claire Hogg, S.B. Carr, Maimoona A. Zariwala, Thomas W. Ferkol, Margaret W. Leigh, Stephanie D. Davis, Jeffrey J. Atkinson, Susan K. Dutcher, Michael R. Knowles, Hölger Thiele, Janine Altmüller, Henrike Krenz, Marius Wöste, Angela Brentrup, Frank Ahrens, Christian Vogelberg, Deborah J. Morris‐Rosendahl, Heymut Omran
منشور في 2019Artigo -
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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation حسب Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson, Christopher E. Slagle, Nikolai Klena, Gerard W. Dougherty, Małgorzata Kurkowiak, Niki T. Loges, Christine P. Diggle, Nicholas Morante, George C. Gabriel, Kristi Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June K. Marthin, Dorus A. Mans, Stef J.F. Letteboer, Claudius Werner, Thomas Burgoyne, Cordula Westermann, Andrew Rutman, Ian Carr, Christopher O’Callaghan, Eduardo Moya, Eddie M.K. Chung, Eamonn Sheridan, Kim G. Nielsen, Ronald Roepman, Kerstin Bartscherer, Rebecca D. Burdine, Cecilia Lo, Heymut Omran, Hannah M. Mitchison
منشور في 2014Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Cilium
Gene
Cell biology
Medicine
Internal medicine
Bronchiectasis
Lung
Primary ciliary dyskinesia
Motile cilium
Flagellum
Microtubule
Dynein
Phenotype
Anatomy
Axoneme
Mutation
Ciliopathy
Intraflagellar transport
Ciliogenesis
Ciliopathies
Infertility
Mucociliary clearance
Mutant
Physics
Pregnancy
Zebrafish
Asymmetry
Immunology