| 1 | DFNB23, PCDH15, USH1F
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| Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain.
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| Webb SW, Grillet N, Andrade LR, Xiong W, Swarthout L, Della Santina CC, Kachar B, Müller U.
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| Development 138(8):1607-17.
2011
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| 2 | ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH1G, USH2A, USH2C, USH2D, USH3A, WHRN
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| Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.
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| Zallocchi M, Sisson JH, Cosgrove D.
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| Biochemistry 49(6):1236-47.PMID: 20058854 2010
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| 3 | DFNB23, PCDH15, USH1F
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| Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
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| Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland L, Li XC, Lee M, King MC, Young TL.
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| Eur J Hum Genet 17(5):554-64. Epub 2008 Dec 24.
2009
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| 4 | ADGRV1, MYO7A, PCDH15, USH1B, USH1F, USH2A, USH2C
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| Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
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| Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS.
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| Hum Mol Genet 17(15):2405-15. Epub 2008 May 7. 2008
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| 5 | PCDH15, USH1F
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| Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
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| Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB.
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| Hum Genet 124(3):215-23. Epub 2008 Aug 22.
2008
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| 6 | PCDH15, USH1C, USH1F, DFNB23
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| Promoter, alternative splice forms, and genomic structure of protocadherin 15.
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| Alagramam KN, Miller ND, Adappa ND, Pitts DR, Heaphy JC, Yuan H, Smith RJ.
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| Genomics 90(4):482-92. Epub 2007 Aug 15. 2007
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| 7 | PCDH15, USH1F
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| In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
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| Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben-Yosef T.
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| Hum Genet 122(3-4):373-81. Epub 2007 Jul 25. 2007
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| 8 | USH1D, CDH23, USH1F, PCDH15
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| 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%.
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| 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.
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| J Med Genet 43(9):763-8. Epub 2006 May 5. 2006
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| 9 | ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH2B, USH2C
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| First evidence for a molecular link between Usher 1 and Usher 2 syndromes.
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| Stein R.
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| Clin Genet 69(6):483-485. No abstract available. 2006
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| 10 | USH1F
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| Usher syndrome: molecular links of pathogenesis, proteins and pathways.
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| Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R.
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| Hum Mol Genet 15 Spec No 2:R262-70. Review. 2006
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| 11 | PCDH15, USH1F, CDH23, USH1D, USH1C
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| Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
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| Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ.
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| Hum Mol Genet 14(1):103-11. Epub 2004 Nov 10. 2005
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| 12 | USH1B, USH1C, USH1D, USH1F
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| Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
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| 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.
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| Hum Genet 116(4):292-9. Epub 2005 Jan 20. 2005
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| 13 | USH1C, USH1F, PCDH15
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| Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
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| Reiners J, Marker T, Jurgens K, Reidel B, Wolfrum U.
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| Mol Vis 11:347-55. 2005
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| 14 | USH1A, USH1B, USH1C, USH1D, USH1E, USH1F, USH1G
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| Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.
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| El-Amraoui A, Petit C.
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| J Cell Sci 118(Pt 20):4593-603. Review. 2005
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| 15 | DFNB23, PCDH15, USH1F
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| PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
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| Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER.
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| Hum Mol Genet 12(24):3215-23. Epub 2003 Oct 21. 2003
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| 16 | PCDH15, USH1F
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| Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
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| Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER.
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| Am J Hum Genet 69(1):25-34. 2001
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| 17 | PCDH15, USH1F
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| Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
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| Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hagemen GS, Woychik RP, Smith RJ.
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| Hum Mol Genet 10(16):1709-18. 2001
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| 18 | DFN2, DFNA10, DFNA13, DFNA18, DFNA2, DFNA4, DFNA5, DFNA6, DFNB12, DFNB13, DFNB15, DFNB16, DFNB17, DFNB19, DFNB6, DFNB7, DFNB8, USH1D, USH1E, USH1F, CLRN1
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| Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.
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| Skvorak AB, et al.
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| Hum Mol Genet 8(3):439-52 1999
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| 19 | USH1F
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| Localization of the Usher syndrome type IF (Ush1F) to chromosome 10. (abstr)
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| Wayne S, et al.
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| Am J Hum Genet 61 : A300. 1997
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