PMC Links for Gene (Select 500442) - PMC

Select item 12756211.

Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

Cécile Guichard, Marie-Cécile Harricane, Jean-Jacques Lafitte, Philippe Godard, Marc Zaegel, Vincent Tack, Guy Lalau, Patrice Bouvagnet

Am J Hum Genet. 2001 Apr; 68(4): 1030–1035. Published online 2001 Feb 23. doi: 10.1086/319511

PMCID:: PMC1275621

Abstract Article PDF–627K

Select item 26480542.

Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation

Maimoona A. Zariwala, Margaret W. Leigh, Franck Ceppa, Marcus P. Kennedy, Peadar G. Noone, Johnny L. Carson, Milan J. Hazucha, Adriana Lori, Judit Horvath, Heike Olbrich, Niki T. Loges, Anne-Marie Bridoux, Gaëlle Pennarun, Bénédicte Duriez, Estelle Escudier, Hannah M. Mitchison, Rahul Chodhari, Eddie M. K. Chung, Lucy C. Morgan, Robbert U. de Iongh, Jonathan Rutland, Ugo Pradal, Heymut Omran, Serge Amselem, Michael R. Knowles

Am J Respir Crit Care Med. 2006 Oct 15; 174(8): 858–866. Published online 2006 Jul 20. doi: 10.1164/rccm.200603-370OC

PMCID:: PMC2648054

Abstract Article PDF–910K

Select item 28908493.

Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry

Koji Ikegami, Showbu Sato, Kenji Nakamura, Lawrence E. Ostrowski, Mitsutoshi Setou

Proc Natl Acad Sci U S A. 2010 Jun 8; 107(23): 10490–10495. Published online 2010 May 24. doi: 10.1073/pnas.1002128107

PMCID:: PMC2890849

Abstract Article PDF–1005K

Select item 27184784.

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 26680285.

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 37707286.

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 53286187.

Insulin signaling regulates a functional interaction between adenomatous polyposis coli and cytoplasmic dynein

Feng J. Gao, Liang Shi, Timothy Hines, Sachin Hebbar, Kristi L. Neufeld, Deanna S. Smith

Mol Biol Cell. 2017 Mar 1; 28(5): 587–599. doi: 10.1091/mbc.E16-07-0555

PMCID:: PMC5328618

Abstract Article PDF–2.3M

Select item 46175408.

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo

Nature. Author manuscript; available in PMC 2015 Nov 28.

Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269