PMC Links for Gene (Select 287867) - PMC

Select item 36304641.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms

Dinu Antony, Anita Becker-Heck, Maimoona A Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W Leigh, Whitney E Wolf, M. Leigh Anne Daniels, Peader G Noone, Thomas W Ferkol, Scott D Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S Lucas, Claire Hogg, Peter J Scambler, Richard D Emes, UK10K, Eddie MK Chung, Amelia Shoemark, Michael R Knowles, Heymut Omran, Hannah M Mitchison

Hum Mutat. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Hum Mutat. 2013 Mar; 34(3): 462–472. Published online 2013 Feb 11. doi: 10.1002/humu.22261

PMCID:: PMC3630464

Abstract Article PDF–1.3M

Select item 31321832.

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Anita Becker-Heck, Irene Zohn, Noriko Okabe, Andrew Pollock, Kari Baker Lenhart, Jessica Sullivan-Brown, Jason McSheene, Niki T. Loges, Heike Olbrich, Karsten Haeffner, Manfred Fliegauf, Judith Horvath, Richard Reinhardt, Kim G. Nielsen, June K Marthin, Gyorgy Baktai, Kathryn V. Anderson, Robert Geisler, Lee Niswander, Heymut Omran, Rebecca D. Burdine

Nat Genet. Author manuscript; available in PMC 2011 Jul 8.

Published in final edited form as: Nat Genet. 2011 Jan; 43(1): 79–84. Published online 2010 Dec 5. doi: 10.1038/ng.727

PMCID:: PMC3132183

Abstract Article PDF–4.5M

Select item 45968933.

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

Heike Olbrich, Carolin Cremers, Niki T. Loges, Claudius Werner, Kim G. Nielsen, June K. Marthin, Maria Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard W. Dougherty, Oliver Schwartz, Holger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran

Am J Hum Genet. 2015 Oct 1; 97(4): 546–554. Published online 2015 Sep 17. doi: 10.1016/j.ajhg.2015.08.012

PMCID:: PMC4596893

Abstract Article PDF–1.4M

Select item 37707284.

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

Nader Nakhleh, Richard Francis, Rachel A. Giese, Xin Tian, You Li, Maimoona A. Zariwala, Hisato Yagi, Omar Khalifa, Safina Kureshi, Bishwanath Chatterjee, Steven L. Sabol, Matthew Swisher, Patricia S. Connelly, Mathew P. Daniels, Ashok Srinivasan, Karen Kuehl, Nadav Kravitz, Kimberlie Burns, Iman Sami, Heymut Omran, Michael Barmada, Kenneth Olivier, Kunal K. Chawla, Margaret Leigh, Richard Jonas, Michael Knowles, Linda Leatherbury, Cecilia W. Lo

Circulation. Author manuscript; available in PMC 2013 Sep 11.

Published in final edited form as: Circulation. 2012 May 8; 125(18): 2232–2242. Published online 2012 Apr 12. doi: 10.1161/CIRCULATIONAHA.111.079780

PMCID:: PMC3770728

Abstract Article PDF–1.0M

Select item 53001855.

Mechanism for generation of left isomerism in Ccdc40 mutant embryos

Kelsey F. Sugrue, Irene E. Zohn

PLoS One. 2017; 12(2): e0171180. Published online 2017 Feb 9. doi: 10.1371/journal.pone.0171180

PMCID:: PMC5300185

Abstract Article PDF–2.7M

Select item 5402776.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

Select item 31780597.

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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