PMC Links for Nucleotide (Select 1519242928) - 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 50893742.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Abstract Article PDF–1.5M

Select item 48487623.

Pooled‐matrix protein interaction screens using Barcode Fusion Genetics

Nozomu Yachie, Evangelia Petsalaki, Joseph C Mellor, Jochen Weile, Yves Jacob, Marta Verby, Sedide B Ozturk, Siyang Li, Atina G Cote, Roberto Mosca, Jennifer J Knapp, Minjeong Ko, Analyn Yu, Marinella Gebbia, Nidhi Sahni, Song Yi, Tanya Tyagi, Dayag Sheykhkarimli, Jonathan F Roth, Cassandra Wong, Louai Musa, Jamie Snider, Yi‐Chun Liu, Haiyuan Yu, Pascal Braun, Igor Stagljar, Tong Hao, Michael A Calderwood, Laurence Pelletier, Patrick Aloy, David E Hill, Marc Vidal, Frederick P Roth

Mol Syst Biol. 2016 Apr; 12(4): 863. Published online 2016 Apr 23. doi: 10.15252/msb.20156660

PMCID:: PMC4848762

Abstract Article PDF–2.8M

Select item 31022904.

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

Lis Jakobsen, Katja Vanselow, Marie Skogs, Yusuke Toyoda, Emma Lundberg, Ina Poser, Lasse G Falkenby, Martin Bennetzen, Jens Westendorf, Erich A Nigg, Mathias Uhlen, Anthony A Hyman, Jens S Andersen

EMBO J. 2011 Apr 20; 30(8): 1520–1535. Published online 2011 Mar 11. doi: 10.1038/emboj.2011.63

PMCID:: PMC3102290

Abstract Article PDF–1.3M

Select item 29333505.

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau, Heidi Stöhr, Nela S. Maksimovic, Joseph C. Corbo, Agnes B. Renner, Eberhart Zrenner, Govindasamy Kumaramanickavel, Marcus Karlstetter, Yvan Arsenijevic, Bernhard H.F. Weber, Andreas Gal, Carlo Rivolta

Am J Hum Genet. 2010 Sep 10; 87(3): 376–381. doi: 10.1016/j.ajhg.2010.07.018

PMCID:: PMC2933350

Abstract Article PDF–868K

Select item 29333436.

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, Alexey Obolensky, Itay Chowers, Jacob Pe'er, Saul Merin, Tamar Ben-Yosef, Ruth Ashery-Padan, Eyal Banin, Dror Sharon

Am J Hum Genet. 2010 Sep 10; 87(3): 382–391. doi: 10.1016/j.ajhg.2010.07.022

PMCID:: PMC2933343

Abstract Article PDF–1.3M

Select item 17344327.

Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family

S. Gu, G. Kumaramanickavel, C Srikumari, M. Denton, A. Gal

J Med Genet. 1999 Sep; 36(9): 705–707.

PMCID:: PMC1734432

Summary PDF–73K

Select item 70214938.

A helical inner scaffold provides a structural basis for centriole cohesion

Maeva Le Guennec, Nikolai Klena, Davide Gambarotto, Marine H. Laporte, Anne-Marie Tassin, Hugo van den Hoek, Philipp S. Erdmann, Miroslava Schaffer, Lubomir Kovacik, Susanne Borgers, Kenneth N. Goldie, Henning Stahlberg, Michel Bornens, Juliette Azimzadeh, Benjamin D. Engel, Virginie Hamel, Paul Guichard

Sci Adv. 2020 Feb; 6(7): eaaz4137. Published online 2020 Feb 14. doi: 10.1126/sciadv.aaz4137

PMCID:: PMC7021493

Abstract Article PDF–2.8M

Select item 68577779.

The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations

Miriam Ehrenberg, Shirel Weiss, Naama Orenstein, Nitza Goldenberg-Cohen, Tamar Ben-Yosef

Mol Vis. 2019; 25: 691–702. Published online 2019 Nov 14.

PMCID:: PMC6857777

Abstract Article PDF–1.1M

Select item 614336310.

Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent

Adda Villanueva, Pooja Biswas, Kameron Kishaba, John Suk, Keerti Tadimeti, P.B Raghavendra, Karine Nadeau, Bruno Lamontagne, Lambert Busque, Steve Geoffroy, Ian Mongrain, Géraldine Asselin, Sylvie Provost, Marie-Pierre Dubé, Eric Nudleman, Radha Ayyagari

Ophthalmic Genet. Author manuscript; available in PMC 2018 Sep 18.

Published in final edited form as: Ophthalmic Genet. 2018 Jan-Feb; 39(1): 73–79. Published online 2017 Sep 25. doi: 10.1080/13816810.2017.1373830