PMC Links for GEO Profiles (Select 23339646) - PMC

Select item 66125171.

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 51815962.

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

Ozanna Burnicka-Turek, Jeffrey D. Steimle, Wenhui Huang, Lindsay Felker, Anna Kamp, Junghun Kweon, Michael Peterson, Roger H. Reeves, Cheryl L. Maslen, Peter J. Gruber, Xinan H. Yang, Jay Shendure, Ivan P. Moskowitz

Hum Mol Genet. 2016 Jul 15; 25(14): 3011–3028. Published online 2016 Jun 23. doi: 10.1093/hmg/ddw155

PMCID:: PMC5181596

Abstract Article PDF–1.1M

Select item 49793673.

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 46175404.

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

PMCID:: PMC4617540

Abstract Article PDF–518K

Select item 37707285.

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 37397006.

Mutations of DNAH11 in Primary Ciliary Dyskinesia Patients with Normal Ciliary Ultrastructure

Michael R Knowles, Margaret W Leigh, Johnny L Carson, Stephanie D Davis, Sharon D Dell, Thomas W Ferkol, Kenneth N Olivier, Scott D Sagel, Margaret Rosenfeld, Kimberlie A. Burns, Susan L Minnix, Michael C Armstrong, Adriana Lori, Milan J Hazucha, Niki T Loges, Heike Olbrich, Anita Becker-Heck, Miriam Schmidts, Claudius Werner, Heymut Omran, Maimoona A Zariwala, The Genetic Disorders of Mucociliary Clearance Consortium

Thorax. Author manuscript; available in PMC 2013 Aug 9.

Published in final edited form as: Thorax. 2012 May; 67(5): 433–441. Published online 2011 Dec 18. doi: 10.1136/thoraxjnl-2011-200301

PMCID:: PMC3739700

Abstract Article PDF–660K

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

Select item 29845068.

Left−Right Asymmetry Defect in the Hippocampal Circuitry Impairs Spatial Learning and Working Memory in iv Mice

Kazuhiro Goto, Ryo Kurashima, Hayato Gokan, Naomi Inoue, Isao Ito, Shigeru Watanabe

PLoS One. 2010; 5(11): e15468. Published online 2010 Nov 17. doi: 10.1371/journal.pone.0015468

PMCID:: PMC2984506

Abstract Article PDF–723K

Select item 22915759.

Right Isomerism of the Brain in Inversus Viscerum Mutant Mice

Ryosuke Kawakami, Alice Dobi, Ryuichi Shigemoto, Isao Ito

PLoS One. 2008; 3(4): e1945. Published online 2008 Apr 16. doi: 10.1371/journal.pone.0001945

PMCID:: PMC2291575

Abstract Article PDF–310K

Select item 180058810.

Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice

Dorothy M. Supp, David P. Witte, S. Steven Potter, Martina Brueckner

Nature. Author manuscript; available in PMC 2007 Feb 16.

Published in final edited form as: Nature. 1997 Oct 30; 389(6654): 963–966. doi: 10.1038/40140

PMCID:: PMC1800588

Abstract Article PDF–605K

Select item 179788011.

Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries

Dorothy M. Supp, Martina Brueckner, Michael R. Kuehn, David P. Witte, Linda A. Lowe, James McGrath, JoMichelle Corrales, S. Steven Potter

Development. Author manuscript; available in PMC 2007 Feb 15.

Published in final edited form as: Development. 1999 Dec; 126(23): 5495–5504. doi: 10.1242/dev.126.23.5495

PMCID:: PMC1797880

Abstract Article PDF–1.5M

Select item 12490512.

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Lucia Bartoloni, Jean-Louis Blouin, Yanzhen Pan, Corinne Gehrig, Amit K. Maiti, Nathalie Scamuffa, Colette Rossier, Mark Jorissen, Miguel Armengot, Maggie Meeks, Hannah M. Mitchison, Eddie M. K. Chung, Celia D. Delozier-Blanchet, William J. Craigen, Stylianos E. Antonarakis

Proc Natl Acad Sci U S A. 2002 Aug 6; 99(16): 10282–10286. Published online 2002 Jul 25. doi: 10.1073/pnas.152337699

PMCID:: PMC124905

Abstract Article PDF–309K

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