PMC Links for Protein (Select 557357754) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 42677222.

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

Jianfeng Lin, Weining Yin, Maria C. Smith, Kangkang Song, Margaret W. Leigh, Maimoona A. Zariwala, Michael R. Knowles, Lawrence E. Ostrowski, Daniela Nicastro

Nat Commun. Author manuscript; available in PMC 2015 Jun 4.

Published in final edited form as: Nat Commun. 2014; 5: 5727. Published online 2014 Dec 4. doi: 10.1038/ncomms6727

PMCID:: PMC4267722

Abstract Article PDF–1.7M

Select item 39838403.

Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Michael R. Knowles, Lawrence E. Ostrowski, Margaret W. Leigh, Patrick R. Sears, Stephanie D. Davis, Whitney E. Wolf, Milan J. Hazucha, Johnny L. Carson, Kenneth N. Olivier, Scott D. Sagel, Margaret Rosenfeld, Thomas W. Ferkol, Sharon D. Dell, Carlos E. Milla, Scott H. Randell, Weining Yin, Aruna Sannuti, Hilda M. Metjian, Peadar G. Noone, Peter J. Noone, Christina A. Olson, Michael V. Patrone, Hong Dang, Hye-Seung Lee, Toby W. Hurd, Heon Yung Gee, Edgar A. Otto, Jan Halbritter, Stefan Kohl, Martin Kircher, Jeffrey Krischer, Michael J. Bamshad, Deborah A. Nickerson, Friedhelm Hildebrandt, Jay Shendure, Maimoona A. Zariwala

Am J Respir Crit Care Med. 2014 Mar 15; 189(6): 707–717. Published online 2014 Mar 15. doi: 10.1164/rccm.201311-2047OC

PMCID:: PMC3983840

Abstract Article PDF–1.3M

Select item 37699244.

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet, Julie Beucher, Nicole Beydon, Eric Deneuville, Véronique Houdouin, Hubert Journel, Jocelyne Just, Nadia Nathan, Aline Tamalet, Nathalie Collot, Ludovic Jeanson, Morgane Le Gouez, Benoit Vallette, Anne-Marie Vojtek, Ralph Epaud, André Coste, Annick Clement, Bruno Housset, Bruno Louis, Estelle Escudier, Serge Amselem

Am J Hum Genet. 2013 Sep 5; 93(3): 561–570. doi: 10.1016/j.ajhg.2013.07.013

PMCID:: PMC3769924

Abstract Article PDF–1.0M

Select item 19350235.

Radial Spoke Protein 44 (Human Meichroacidin) is an Axonemal Alloantigen of Sperm and Cilia

Jagathpala Shetty, Kenneth L. Klotz, Michael J. Wolkowicz, Charles J. Flickinger, John C. Herr

Gene. Author manuscript; available in PMC 2008 Jul 1.

Published in final edited form as: Gene. 2007 Jul 1; 396(1): 93–107. Published online 2007 Mar 23. doi: 10.1016/j.gene.2007.02.031

PMCID:: PMC1935023

Abstract Article PDF–2.3M

Select item 15267286.

Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins

Yu-Hui Hu, Hans-Jörg Warnatz, Dominique Vanhecke, Florian Wagner, Andrea Fiebitz, Sabine Thamm, Pascal Kahlem, Hans Lehrach, Marie-Laure Yaspo, Michal Janitz

BMC Genomics. 2006; 7: 155. Published online 2006 Jun 16. doi: 10.1186/1471-2164-7-155

PMCID:: PMC1526728

Abstract Article PDF–8.1M

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