PMC Links for Gene (Select 117251) - PMC

Select item 62883201.

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Mahmoud R. Fassad, Amelia Shoemark, Marie Legendre, Robert A. Hirst, France Koll, Pierrick le Borgne, Bruno Louis, Farheen Daudvohra, Mitali P. Patel, Lucie Thomas, Mellisa Dixon, Thomas Burgoyne, Joseph Hayes, Andrew G. Nicholson, Thomas Cullup, Lucy Jenkins, Siobhán B. Carr, Paul Aurora, Michel Lemullois, Anne Aubusson-Fleury, Jean-François Papon, Christopher O’Callaghan, Serge Amselem, Claire Hogg, Estelle Escudier, Anne-Marie Tassin, Hannah M. Mitchison

Am J Hum Genet. 2018 Dec 6; 103(6): 984–994. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.016

PMCID:: PMC6288320

Abstract Article PDF–3.2M

Select item 78170142.

CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components

Takahiro Ide, Wang Kyaw Twan, Hao Lu, Yayoi Ikawa, Lin-Xenia Lim, Nicole Henninger, Hiromi Nishimura, Katsuyoshi Takaoka, Vijay Narasimhan, Xiumin Yan, Hidetaka Shiratori, Sudipto Roy, Hiroshi Hamada

PLoS Genet. 2020 Dec; 16(12): e1009232. Published online 2020 Dec 21. doi: 10.1371/journal.pgen.1009232

PMCID:: PMC7817014

Abstract Article PDF–4.1M

Select item 27184783.

Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia

Manfred Fliegauf, Heike Olbrich, Judit Horvath, Johannes H. Wildhaber, Maimoona A. Zariwala, Marcus Kennedy, Michael R. Knowles, Heymut Omran

Am J Respir Crit Care Med. 2005 Jun 15; 171(12): 1343–1349. Published online 2005 Mar 4. doi: 10.1164/rccm.200411-1583OC

PMCID:: PMC2718478

Abstract Article PDF–578K

Select item 26680284.

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Niki Tomas Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horvath, Manfred Fliegauf, Heiner Kuhl, Gyorgy Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O'Callaghan, Hannah Blau, Laszlo Tiszlavicz, Katarzyna Voelkel, Michal Witt, Ewa Ziętkiewicz, Juergen Neesen, Richard Reinhardt, Hannah M. Mitchison, Heymut Omran

Am J Hum Genet. 2008 Nov 17; 83(5): 547–558. doi: 10.1016/j.ajhg.2008.10.001

PMCID:: PMC2668028

Abstract Article PDF–861K

Select item 49793675.

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

Gerard W. Dougherty, Niki T. Loges, Judith A. Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea Menchen, Johanna Raidt, Julia Wallmeier, Claudius Werner, Cordula Westermann, Christian Ruckert, Virginia Mirra, Rim Hjeij, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Kavita Praveen, Mohammad A. Kashef, Sara Kashef, Fardin Eghtedari, Karsten Häffner, Pekka Valmari, György Baktai, Micha Aviram, Lea Bentur, Israel Amirav, Erica E. Davis, Nicholas Katsanis, Martina Brueckner, Artem Shaposhnykov, Gaia Pigino, Bernd Dworniczak, Heymut Omran

Am J Respir Cell Mol Biol. 2016 Aug; 55(2): 213–224. doi: 10.1165/rcmb.2015-0353OC

PMCID:: PMC4979367

Abstract Article PDF–2.5M

Select item 37388286.

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A. Zariwala, Xiaoqin Liu, You Li, Rama Damerla, Gerard W. Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T. Loges, Petra Pennekamp, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes-Mugica, James R. Lupski, Margaret W. Leigh, Margaret Rosenfeld, Lucy C. Morgan, Michael R. Knowles, Cecilia W. Lo, Nicholas Katsanis, Heymut Omran

Am J Hum Genet. 2013 Aug 8; 93(2): 357–367. doi: 10.1016/j.ajhg.2013.06.009

PMCID:: PMC3738828

Abstract Article PDF–2.9M

Select item 66125177.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean-Pierre Siffroi, Jean-François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre

Am J Hum Genet. 2019 Jul 3; 105(1): 198–212. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.04.015

PMCID:: PMC6612517

Abstract Article PDF–3.2M

Select item 31780598.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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