메뉴 건너뛰기




Volumn 27, Issue 1, 2001, Pages 108-112

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; COMPLEMENTARY DNA;

EID: 0035158639     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/83667     Document Type: Article
Times cited : (401)

References (27)
  • 2
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1
  • 3
    • 0033816925 scopus 로고    scopus 로고
    • A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies usher syndrome type 1C
    • (2000) Nature Genet. , vol.26 , pp. 51-55
    • Verpy, E.1
  • 4
    • 0033822063 scopus 로고    scopus 로고
    • A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the usher type 1C gene
    • (2000) Nature Genet. , vol.26 , pp. 56-60
    • Bitner-Glindzicz, M.1
  • 5
    • 0029798669 scopus 로고    scopus 로고
    • Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1689-1692
    • Wayne, S.1
  • 6
    • 0035168151 scopus 로고    scopus 로고
    • Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
    • (2001) Nature Genet. , vol.27 , pp. 103-107
    • Di Palma, F.1
  • 8
    • 0034657319 scopus 로고    scopus 로고
    • Cadherin superfamily genes: Functions, genomic organization, and neurologic diversity
    • (2000) Genes Dev. , vol.14 , pp. 1169-1180
    • Yagi, T.1    Takeichi, M.2
  • 11
    • 0034625313 scopus 로고    scopus 로고
    • Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members
    • (2000) J. MoL Biol. , vol.299 , pp. 551-572
    • Nollet, F.1    Kools, P.2    Van Roy, F.3
  • 15
    • 0035159856 scopus 로고    scopus 로고
    • The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a new protocadherin gene
    • (2001) Nature Genet. , vol.27 , pp. 99-102
    • Alagramam, K.N.1
  • 17
    • 0032216552 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 909-912
    • Liu, X.Z.1
  • 18
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
    • (1997) Nature Genet. , vol.16 , pp. 191-193
    • Weil, D.1
  • 19
    • 0031278277 scopus 로고    scopus 로고
    • Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
    • (1997) Nature Genet. , vol.17 , pp. 268-269
    • Liu, X.Z.1
  • 20
    • 0032104235 scopus 로고    scopus 로고
    • A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
    • (1998) Genomics , vol.50 , pp. 290-292
    • Jain, P.K.1
  • 21
    • 0030054738 scopus 로고    scopus 로고
    • Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1061-1064
    • Chaib, H.1
  • 23
    • 0032511101 scopus 로고    scopus 로고
    • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    • (1998) Science , vol.280 , pp. 1753-1757
    • Eudy, J.D.1
  • 27
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.