PMC Links for Nucleotide (Select 1519312499) - PMC

Select item 58862961.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson

Hum Mol Genet. 2018 Feb 1; 27(3): 529–545. Published online 2017 Dec 7. doi: 10.1093/hmg/ddx422

PMCID:: PMC5886296

Abstract Article PDF–1.3M

Select item 51874242.

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility

Kevin Litchfield, Max Levy, Darshna Dudakia, Paula Proszek, Claire Shipley, Sander Basten, Elizabeth Rapley, D. Timothy Bishop, Alison Reid, Robert Huddart, Peter Broderick, David Gonzalez de Castro, Simon O'Connor, Rachel H. Giles, Richard S. Houlston, Clare Turnbull

Nat Commun. 2016; 7: 13840. Published online 2016 Dec 20. doi: 10.1038/ncomms13840

PMCID:: PMC5187424

Abstract Article PDF–686K

Select item 50689503.

Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans

Chunyue Miao, Qian Jiang, Huili Li, Qin Zhang, Baoling Bai, Yihua Bao, Ting Zhang

G3 (Bethesda) 2016 Oct; 6(10): 3307–3316. Published online 2016 Aug 18. doi: 10.1534/g3.116.033696

PMCID:: PMC5068950

Abstract Article PDF–1.4M

Select item 40004444.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Aarti Tarkar, Niki T. Loges, Christopher E. Slagle, Richard Francis, Gerard W. Dougherty, Joel V. Tamayo, Brett Shook, Marie Cantino, Daniel Schwartz, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Petra Pennekamp, Marouan Abouhamed, Rim Hjeij, Gabriele Köhler, Matthias Griese, You Li, Kristi Lemke, Nikolas Klena, Xiaoqin Liu, George Gabriel, Kimimasa Tobita, Martine Jaspers, Lucy C. Morgan, Adam J. Shapiro, Stef J.F. Letteboer, Dorus A. Mans, Johnny L. Carson, Margaret W. Leigh, Whitney E. Wolf, Serafine Chen, Jane S. Lucas, Alexandros Onoufriadis, Vincent Plagnol, Miriam Schmidts, Karsten Boldt, UK10K, Ronald Roepman, Maimoona Zariwala, Cecilia W. Lo, Hannah M. Mitchison, Michael R. Knowles, Rebecca D. Burdine, Joseph J. LoTurco, Heymut Omran

Nat Genet. Author manuscript; available in PMC 2014 Apr 26.

Published in final edited form as: Nat Genet. 2013 Sep; 45(9): 995–1003. Published online 2013 Jul 21. doi: 10.1038/ng.2707

PMCID:: PMC4000444

Abstract Article PDF–2.1M

Select item 27958015.

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 27905696.

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Philippe Duquesnoy, Estelle Escudier, Laetitia Vincensini, Judy Freshour, Anne-Marie Bridoux, André Coste, Antoine Deschildre, Jacques de Blic, Marie Legendre, Guy Montantin, Henrique Tenreiro, Anne-Marie Vojtek, Céline Loussert, Annick Clément, Denise Escalier, Philippe Bastin, David R. Mitchell, Serge Amselem

Am J Hum Genet. 2009 Dec 11; 85(6): 890–896. doi: 10.1016/j.ajhg.2009.11.008