PMC Links for Protein (Select 459642365) - PMC

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Items: 5

Select item 64999821.

Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma

Jiru Wang, Qiuzi Wang, Bin Wei, Yu Zhou, Zhaoye Qian, Yong Gao, Xiaofei Chen

BMC Med Genet. 2019; 20: 72. Published online 2019 May 3. doi: 10.1186/s12881-019-0796-9

PMCID:: PMC6499982

Abstract Article PDF–754K

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 37397003.

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 1249054.

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