PMC Links for Gene (Select 298524) - PMC

Select item 27958011.

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

Niki Tomas Loges, Heike Olbrich, Anita Becker-Heck, Karsten Häffner, Angelina Heer, Christina Reinhard, Miriam Schmidts, Andreas Kispert, Maimoona A. Zariwala, Margaret W. Leigh, Michael R. Knowles, Hanswalter Zentgraf, Horst Seithe, Gudrun Nürnberg, Peter Nürnberg, Richard Reinhardt, Heymut Omran

Am J Hum Genet. 2009 Dec 11; 85(6): 883–889. doi: 10.1016/j.ajhg.2009.10.018

PMCID:: PMC2795801

Abstract Article PDF–894K

Select item 49793672.

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 37388283.

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 66125174.

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 58258745.

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

Zakia Abdelhamed, Shawn M. Vuong, Lauren Hill, Crystal Shula, Andrew Timms, David Beier, Kenneth Campbell, Francesco T. Mangano, Rolf W. Stottmann, June Goto

Development. 2018 Jan 1; 145(1): dev154500. doi: 10.1242/dev.154500

PMCID:: PMC5825874

Abstract Article

Select item 60449066.

ZMYND10 functions in a chaperone relay during axonemal dynein assembly

Girish R Mali, Patricia L Yeyati, Seiya Mizuno, Daniel O Dodd, Peter A Tennant, Margaret A Keighren, Petra zur Lage, Amelia Shoemark, Amaya Garcia-Munoz, Atsuko Shimada, Hiroyuki Takeda, Frank Edlich, Satoru Takahashi, Alex von Kreigsheim, Andrew P Jarman, Pleasantine Mill

eLife. 2018; 7: e34389. Published online 2018 Jun 19. doi: 10.7554/eLife.34389