PMC Links for Gene (Select 300719) - PMC

Select item 49298761.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Celia Zazo Seco, Arnaud P Giese, Sobia Shafique, Margit Schraders, Anne M M Oonk, Mike Grossheim, Jaap Oostrik, Tim Strom, Rashmi Hegde, Erwin van Wijk, Gregory I Frolenkov, Maleeha Azam, Helger G Yntema, Rolien H Free, Saima Riazuddin, Joke B G M Verheij, Ronald J Admiraal, Raheel Qamar, Zubair M Ahmed, Hannie Kremer

Eur J Hum Genet. 2016 Apr; 24(4): 542–549. Published online 2015 Jul 15. doi: 10.1038/ejhg.2015.157

PMCID:: PMC4929876

Abstract Article PDF–1.3M

Select item 45913432.

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

Kunjan Patel, Arnaud P. Giese, J. M. Grossheim, Rashima S. Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I. Frolenkov, Jinlu Cai, Zubair M. Ahmed, Bernice E. Morrow

PLoS One. 2015; 10(10): e0133082. Published online 2015 Oct 1. doi: 10.1371/journal.pone.0133082

Correction in:: PLoS One. 2015; 10(10): e0141259.

PMCID:: PMC4591343

Abstract Article PDF–5.4M

Select item 35012593.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin, Inna A. Belyantseva, Arnaud Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed

Nat Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1265–1271. Published online 2012 Sep 30. doi: 10.1038/ng.2426

PMCID:: PMC3501259

Abstract Article PDF–1.9M

Select item 32598294.

Cib2 Binds Integrin α7Bβ1D and Is Reduced in Laminin α2 Chain-deficient Muscular Dystrophy

Mattias Häger, Maria Giulia Bigotti, Renata Meszaros, Virginie Carmignac, Johan Holmberg, Valérie Allamand, Mikael Åkerlund, Sebastian Kalamajski, Andrea Brancaccio, Ulrike Mayer, Madeleine Durbeej

J Biol Chem. 2008 Sep 5; 283(36): 24760–24769. doi: 10.1074/jbc.M801166200

PMCID:: PMC3259829

Abstract Article PDF–515K

Select item 1392415.

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

Select item 31780596.

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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