PMC Links for Protein (Select 112734867) - 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 59785672.

Cell type‐specific regulation of ciliary transition zone assembly in vertebrates

Antonia Wiegering, Renate Dildrop, Lisa Kalfhues, André Spychala, Stefanie Kuschel, Johanna Maria Lier, Thomas Zobel, Stefanie Dahmen, Tristan Leu, Andreas Struchtrup, Flora Legendre, Christine Vesque, Sylvie Schneider‐Maunoury, Sophie Saunier, Ulrich Rüther, Christoph Gerhardt

EMBO J. 2018 May 15; 37(10): e97791. Published online 2018 Apr 12. doi: 10.15252/embj.201797791

PMCID:: PMC5978567

Abstract Article PDF–2.8M

Select item 58244053.

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing

Saber Imani, Jingliang Cheng, Abdolkarim Mobasher‐Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab‐Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu

J Cell Mol Med. 2018 Mar; 22(3): 1733–1742. Published online 2017 Nov 29. doi: 10.1111/jcmm.13454

PMCID:: PMC5824405

Abstract Article PDF–815K

Select item 12261114.

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Thaddeus P. Dryja, Scott M. Adams, Jonna L. Grimsby, Terri L. McGee, Dong-Hyun Hong, Tiansen Li, Sten Andréasson, Eliot L. Berson

Am J Hum Genet. 2001 May; 68(5): 1295–1298. Published online 2001 Mar 29. doi: 10.1086/320113

PMCID:: PMC1226111

Abstract Article PDF–294K

Select item 56386885.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance

Zachry T. Soens, Justin Branch, Shijing Wu, Zhisheng Yuan, Yumei Li, Hui Li, Keqing Wang, Mingchu Xu, Lavan Rajan, Fabiana L. Motta, Renata T. Simões, Irma Lopez-Solache, Radwan Ajlan, David G. Birch, Peiquan Zhao, Fernanda B. Porto, Juliana Sallum, Robert K. Koenekoop, Ruifang Sui, Rui Chen

Hum Mutat. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Hum Mutat. 2017 Nov; 38(11): 1521–1533. Published online 2017 Aug 18. doi: 10.1002/humu.23294

PMCID:: PMC5638688

Abstract Article PDF–640K

Select item 44664036.

The Role of RPGR and Its Interacting Proteins in Ciliopathies

Sarita Rani Patnaik, Rakesh Kotapati Raghupathy, Xun Zhang, David Mansfield, Xinhua Shu

J Ophthalmol. 2015; 2015: 414781. Published online 2015 Jun 1. doi: 10.1155/2015/414781

PMCID:: PMC4466403

Abstract Article PDF–1.6M

Select item 44218637.

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

Muhammad Arif Nadeem Saqib, Konstantinos Nikopoulos, Ehsan Ullah, Falak Sher Khan, Jamila Iqbal, Rabia Bibi, Afeefa Jarral, Sundus Sajid, Koji M. Nishiguchi, Giulia Venturini, Muhammad Ansar, Carlo Rivolta

Sci Rep. 2015; 5: 9965. Published online 2015 May 6. doi: 10.1038/srep09965

PMCID:: PMC4421863

Abstract Article PDF–1.5M

Select item 30603278.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Lorena Fernández-Martínez, Stef Letteboer, Christian Y Mardin, Nicole Weisschuh, Eugen Gramer, Bernhard HF Weber, Bernd Rautenstrauss, Paulo A Ferreira, Friedrich E Kruse, André Reis, Ronald Roepman, Francesca Pasutto

Eur J Hum Genet. 2011 Apr; 19(4): 445–451. Published online 2011 Jan 12. doi: 10.1038/ejhg.2010.217

PMCID:: PMC3060327

Abstract Article PDF–441K

Select item 13179169.

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P. M. Cremers

Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51): 18520–18525. Published online 2005 Dec 9. doi: 10.1073/pnas.0505774102

PMCID:: PMC1317916

Abstract Article PDF–650K

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