PMC Links for Nucleotide (Select 1674991930) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 57719572.

A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P. Patel, Evelyn A. Robson, Jane Hayward, Juliet Scully, Mahmoud R. Fassad, William Lamb, Miriam Schmidts, Mellisa Dixon, Ramila S. Patel-King, Andrew V. Rogers, Andrew Rutman, Claire L. Jackson, Patricia Goggin, Sarah Ollosson, Siobhán Carr, Woolf Walker, Beryl Adler, Michael R. Loebinger, Robert Wilson, Andrew Bush, Hywel Williams, Christopher Boustred, Lucy Jenkins, Eamonn Sheridan, Christopher M. Watson, Thomas Cullup, Jane S Lucas, Priti Kenia, Christopher O’Callaghan, Stephen M. King, Claire Hogg, Hannah M. Mitchison

Thorax. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Thorax. 2018 Feb; 73(2): 157–166. Published online 2017 Aug 8. doi: 10.1136/thoraxjnl-2017-209999

PMCID:: PMC5771957

Abstract Article PDF–413K

Select item 46309053.

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

Jillian P. Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis, David R. Betts, Jane S. Lucas, Basil Elnazir, Sally Ann Lynch

BMC Med Genet. 2015; 16: 45. Published online 2015 Jun 30. doi: 10.1186/s12881-015-0192-z

PMCID:: PMC4630905

Abstract Article PDF–2.1M

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 33716525.

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Jennifer R. Panizzi, Anita Becker-Heck, Victoria H. Castleman, Dalal Al-Mutairi, Yan Liu, Niki T. Loges, Narendra Pathak, Christina Austin-Tse, Eamonn Sheridan, Miriam Schmidts, Heike Olbrich, Claudius Werner, Karsten Häffner, Nathan Hellman, Rahul Chodhari, Amar Gupta, Albrecht Kramer-Zucker, Felix Olale, Rebecca D. Burdine, Alexander F. Schier, Christopher O’Callaghan, Eddie MK Chung, Richard Reinhardt, Hannah M. Mitchison, Stephen M. King, Heymut Omran, Iain A. Drummond

Nat Genet. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Nat Genet. 2012 Jun; 44(6): 714–719. Published online 2012 May 13. doi: 10.1038/ng.2277

PMCID:: PMC3371652

Abstract Article PDF–967K

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