| 1 | CDH23, DFNB12
|
| Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.
|
| Kim BJ, Kim AR, Lee C, Kim SY, Kim NK, Chang MY, Rhee J, Park MH, Koo SK, Kim MY, Han JH, Oh SH, Park WY, Choi BY.
|
| PLoS One 11(10):e0165680. doi: 10.1371/journal.pone.0165680. eCollection 2016.
2016
|
| 2 | CDH23, DFNB12
|
| High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
|
| Mizutari K, Mutai H, Namba K, Miyanaga Y, Nakano A, Arimoto Y, Masuda S, Morimoto N, Sakamoto H, Kaga K, Matsunaga T.
|
| Orphanet J Rare Dis 10:60. doi: 10.1186/s13023-015-0276-z.
2015
|
| 3 | CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
|
| Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
|
| Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
|
| Genet Test Mol Biomarkers 15(1-2):29-33. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663.
2011
|
| 4 | CDH23, DFNB12, USH1D
|
| Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
|
| Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB.
|
| J Med Genet 48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22.
2011
|
| 5 | CDH23, DFNB12
|
| A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.
|
| Schwander M, Xiong W, Tokita J, Lelli A, Elledge HM, Kazmierczak P, Sczaniecka A, Kolatkar A, Wiltshire T, Kuhn P, Holt JR, Kachar B, Tarantino L, Müller U.
|
| Proc Natl Acad Sci U S A 106(13):5252-7. Epub 2009 Mar 6.
2009
|
| 6 | CDH23, USH1D, DFNB12
|
| Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
|
| Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S.
|
| Clin Genet 72(4):339-44. 2007
|
| 7 | CDH3, DFNB12, USH1D
|
| CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
|
| Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.
|
| Am J Hum Genet 71(2):262-75. 2002
|
| 8 | CDH23, DFNB12, ECD, PPP3CB, USH1D
|
| Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
|
| Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ.
|
| Am J Hum Genet 68(1):26-37. 2001
|
| 9 | CDH23, DFNB12, MYO7A, USH1B, USH1D
|
| Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
|
| Astuto LM, Weston MD, Carney CA, Hoover DM, Cremers CW, Wagenaar M, Moller C, Smith RJ, Pieke-Dahl S, Greenberg J, Ramesar R, Jacobson SG, Ayuso C, Heckenlively JR, Tamayo M, Gorin MB, Reardon W, Kimberling WJ.
|
| Am J Hum Genet 67(6):1569-74. 2000
|
| 10 | DFN2, DFNA10, DFNA13, DFNA18, DFNA2, DFNA4, DFNA5, DFNA6, DFNB12, DFNB13, DFNB15, DFNB16, DFNB17, DFNB19, DFNB6, DFNB7, DFNB8, USH1D, USH1E, USH1F, CLRN1
|
| Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.
|
| Skvorak AB, et al.
|
| Hum Mol Genet 8(3):439-52 1999
|
| 11 | DFNB12
|
| Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.
|
| Cha•b H, et al.
|
| Hum Mol Genet 5 : 1061-1064. 1996
|