PMC Links for GEO Profiles (Select 29227991) - PMC - NCBI

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Items: 8

Select item 40675521.

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Jason R. Willer, I-Chun Tsai, Subhadra Ramanathan, Craig Zuppan, Aniko Sabo, Donna Muzny, Richard Gibbs, Pengfei Liu, Richard A. Lewis, Eyal Banin, James R. Lupski, Robin Clark, Nicholas Katsanis

Am J Hum Genet. 2014 May 1; 94(5): 745–754. doi: 10.1016/j.ajhg.2014.03.017

PMCID:: PMC4067552

Abstract Article PDF–1.7M

Select item 33702462.

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield

J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487

PMCID:: PMC3370246

Abstract Article PDF–2.3M

Select item 32838733.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano

J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375

PMCID:: PMC3283873

Abstract Article

Select item 31780594.

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

Select item 28469305.

Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes

Krishanu Mukherjee, Everly Conway de Macario, Alberto JL Macario, Luciano Brocchieri

BMC Evol Biol. 2010; 10: 64. Published online 2010 Mar 1. doi: 10.1186/1471-2148-10-64

PMCID:: PMC2846930

Abstract Article PDF–1.2M

Select item 28243906.

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

Seongjin Seo, Lisa M. Baye, Nathan P. Schulz, John S. Beck, Qihong Zhang, Diane C. Slusarski, Val C. Sheffield

Proc Natl Acad Sci U S A. 2010 Jan 26; 107(4): 1488–1493. Published online 2010 Jan 6. doi: 10.1073/pnas.0910268107

PMCID:: PMC2824390

Abstract Article PDF–1009K

Select item 25841517.

Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

Christina Gerth, Robert J. Zawadzki, John S. Werner, Elise Héon

Vision Res. Author manuscript; available in PMC 2009 Feb 1.

Published in final edited form as: Vision Res. 2008 Feb; 48(3): 392–399. Published online 2007 Nov 5. doi: 10.1016/j.visres.2007.08.024

PMCID:: PMC2584151

Abstract Article PDF–1.1M

Select item 1392418.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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