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PubMed for id: 332149

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Page 1
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Riazuddin S, et al. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023331 Free PMC article.
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A. Michel V, et al. EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087. EMBO Mol Med. 2017. PMID: 29084757 Free PMC article.
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H. Seco CZ, et al. Eur J Hum Genet. 2016 Apr;24(4):542-9. doi: 10.1038/ejhg.2015.157. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173970 Free PMC article.
Variants in CIB2 cause DFNB48 and not USH1J.
Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ. Booth KT, et al. Clin Genet. 2018 Apr;93(4):812-821. doi: 10.1111/cge.13170. Epub 2018 Feb 12. Clin Genet. 2018. PMID: 29112224 Free PMC article.