PMC Links for Protein (Select 6912338) - PMC

Select item 37707281.

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 36752622.

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, Magdalena Zimoń, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev, Albena Jordanova

Am J Hum Genet. 2013 Jun 6; 92(6): 955–964. doi: 10.1016/j.ajhg.2013.04.013

PMCID:: PMC3675262

Abstract Article PDF–2.6M

Select item 32221513.

A Unified Taxonomy for Ciliary Dyneins

Erik F.Y. Hom, George B. Witman, Elizabeth H. Harris, Susan K. Dutcher, Ritsu Kamiya, David R. Mitchell, Gregory J. Pazour, Mary E. Porter, Winfield S. Sale, Maureen Wirschell, Toshiki Yagi, Stephen M. King

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Cytoskeleton (Hoboken). 2011 Oct; 68(10): 555–565. doi: 10.1002/cm.20533

PMCID:: PMC3222151

Abstract Article PDF–119K

Select item 21734794.

Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function

Chin-Yin Tai, Denis L. Dujardin, Nicole E. Faulkner, Richard B. Vallee

J Cell Biol. 2002 Mar 18; 156(6): 959–968. doi: 10.1083/jcb.200109046

PMCID:: PMC2173479

Abstract Article PDF–537K

Select item 12883615.

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin, Anne-Marie Bridoux, Valère Cacheux, Gilles Roger, Annick Clément, Michel Goossens, Serge Amselem, Bénédicte Duriez

Am J Hum Genet. 1999 Dec; 65(6): 1508–1519. Published online 1999 Nov 17. doi: 10.1086/302683

PMCID:: PMC1288361

Abstract Article PDF–1.1M

Select item 12756216.

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 61771847.

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Marina Andjelkovic, Predrag Minic, Misa Vreca, Maja Stojiljkovic, Anita Skakic, Aleksandar Sovtic, Milan Rodic, Vesna Skodric-Trifunovic, Nina Maric, Jelena Visekruna, Vesna Spasovski, Sonja Pavlovic

PLoS One. 2018; 13(10): e0205422. Published online 2018 Oct 9. doi: 10.1371/journal.pone.0205422