PMC Links for Gene (Select 303915) - PMC

Select item 39528801.

Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

Edwin M. Stone, Artur V. Cideciyan, Tomas S. Aleman, Todd E. Scheetz, Alexander Sumaroka, Mary A. Ehlinger, Sharon B. Schwartz, Gerald A. Fishman, Elias I. Traboulsi, Byron L. Lam, Anne B. Fulton, Robert F. Mullins, Val C. Sheffield, Samuel G. Jacobson

Arch Ophthalmol. Author manuscript; available in PMC 2014 Mar 13.

Published in final edited form as: Arch Ophthalmol. 2011 Jan; 129(1): 81–87. doi: 10.1001/archophthalmol.2010.330

PMCID:: PMC3952880

Abstract Article PDF–2.0M

Select item 31555202.

Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Abigail T. Fahim, Sara J. Bowne, Lori S. Sullivan, Kaylie D. Webb, Jessica T. Williams, Dianna K. Wheaton, David G. Birch, Stephen P. Daiger

PLoS One. 2011; 6(8): e23021. Published online 2011 Aug 12. doi: 10.1371/journal.pone.0023021

PMCID:: PMC3155520

Abstract Article PDF–433K

Select item 41140753.

Polymorphic Variation of RPGRIP1L and IQCB1 as Modifiers of X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

Abigail T. Fahim, Sara J. Bowne, Lori S. Sullivan, Kaylie D. Webb, Jessica T. Williams, Dianna K. Wheaton, David G. Birch, Stephen P. Daiger

Adv Exp Med Biol. Author manuscript; available in PMC 2014 Jul 29.

Published in final edited form as: Adv Exp Med Biol. 2012; 723: 313–320. doi: 10.1007/978-1-4614-0631-0_41

PMCID:: PMC4114075

Article PDF–543K

Select item 39431644.

Whole-Exome Sequencing Identifies ALMS1, IQCB1, CNGA3, and MYO7A Mutations in Patients with Leber Congenital Amaurosis

Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs, Rui Chen

Hum Mutat. Author manuscript; available in PMC 2014 Mar 5.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1450–1459. Published online 2011 Sep 23. doi: 10.1002/humu.21587

PMCID:: PMC3943164

Abstract Article PDF–1.5M

Select item 36242495.

A High-Confidence Interaction Map Identifies SIRT1 as a Mediator of Acetylation of USP22 and the SAGA Coactivator Complex

Sean M. Armour, Eric J. Bennett, Craig R. Braun, Xiao-Yong Zhang, Steven B. McMahon, Steven P. Gygi, J. Wade Harper, David A. Sinclair

Mol Cell Biol. 2013 Apr; 33(8): 1487–1502. doi: 10.1128/MCB.00971-12

PMCID:: PMC3624249

Abstract Article PDF–3.4M

Select item 31022906.

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 33830657.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

Abstract Article PDF–2.0M

Select item 31780598.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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