Citations for
1CIB2, DFNB48, DFNB50, PDZD7, USH1J
PDZD7 and hearing loss: More than just a modifier.
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ.
Am J Med Genet A 167A(12):2957-65. doi: 10.1002/ajmg.a.37274. Epub 2015 Sep 29. 2015
2CIB2, DFNB48, USH1J
Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.
Jan A.
Clin Genet 83(4):317-8. doi: 10.1111/cge.12100. 2013
3CIB2, DFNB48, USH1J
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.
Nat Genet 44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30. 2012
4CIB1, CIB2, CIB3, CIB4
Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.
Huang H, Bogstie JN, Vogel HJ.
Biochem Cell Biol 90(5):646-56. doi: 10.1139/o2012-021. Epub 2012 Jul 11. 2012
5CIB1, CIB2, PPP3CA, PPP3R1
CIB1 is a regulator of pathological cardiac hypertrophy.
Heineke J, Auger-Messier M, Correll RN, Xu J, Benard MJ, Yuan W, Drexler H, Parise LV, Molkentin JD.
Nat Med 16(8):872-9. Epub 2010 Jul 18.PMID: 20639889 2010
6CIB2
Biochemical characterization and expression analysis of a novel EF-hand Ca2+ binding protein calmyrin2 (Cib2) in brain indicates its function in NMDA receptor mediated Ca2+ signaling.
Blazejczyk M, Sobczak A, Debowska K, Wisniewska MB, Kirilenko A, Pikula S, Jaworski J, Kuznicki J, Wojda U.
Arch Biochem Biophys 487(1):66-78. Epub 2009 May 9.PMID: 19433056 2009
7CIB1, CIB2
Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy.
Häger M, Bigotti MG, Meszaros R, Carmignac V, Holmberg J, Allamand V, Akerlund M, Kalamajski S, Brancaccio A, Mayer U, Durbeej M.
J Biol Chem 283(36):24760-9. Epub 2008 Jul 7.PMID: 18611855 2008
8CIB2
Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene.
Seki N, et al.
Biochim Biophys Acta 1444(1):143-7. 1999