| 1 | 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
|
| 2 | ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH1G, USH2A, USH2C, USH2D, USH3A, WHRN
|
| Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.
|
| Zallocchi M, Sisson JH, Cosgrove D.
|
| Biochemistry 49(6):1236-47.PMID: 20058854 2010
|
| 3 | CDH23, MYO7A, USH1B, USH1D
|
| Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.
|
| Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, Mizuta K, Mineta H, Minoshima S.
|
| J Hum Genet 55(12):796-800. Epub 2010 Sep 16.
2010
|
| 4 | 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
|
| 5 | USH1D, CDH23, USH1F, PCDH15
|
| Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
|
| Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration.
|
| J Med Genet 43(9):763-8. Epub 2006 May 5. 2006
|
| 6 | ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH2B, USH2C
|
| First evidence for a molecular link between Usher 1 and Usher 2 syndromes.
|
| Stein R.
|
| Clin Genet 69(6):483-485. No abstract available. 2006
|
| 7 | PCDH15, USH1F, CDH23, USH1D, USH1C
|
| Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
|
| Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ.
|
| Hum Mol Genet 14(1):103-11. Epub 2004 Nov 10. 2005
|
| 8 | USH1B, USH1C, USH1D, USH1F
|
| Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
|
| Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.
|
| Hum Genet 116(4):292-9. Epub 2005 Jan 20. 2005
|
| 9 | USH1A, USH1B, USH1C, USH1D, USH1E, USH1F, USH1G
|
| Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.
|
| El-Amraoui A, Petit C.
|
| J Cell Sci 118(Pt 20):4593-603. Review. 2005
|
| 10 | CDH23, USH1D
|
| Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
|
| von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A.
|
| Hum Mutat 19(3):268-73. 2002
|
| 11 | 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
|
| 12 | 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
|
| 13 | CDH23, USH1D
|
| Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.
|
| Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K.
|
| Nat Genet 27(1):103-7. 2001
|
| 14 | CDH23, USH1D
|
| Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
|
| Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedo Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.
|
| Nat Genet 27(1):108-12. 2001
|
| 15 | 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
|
| 16 | 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
|
| 17 | USH1D
|
| Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
|
| Wayne S, et al.
|
| Hum Mol Genet 5 : 1689-1692. 1996
|