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Volumn 314, Issue 2, 2004, Pages 440-446

Identification of a novel Cochlin isoform in the perilymph: Insights to Cochlin function and the pathogenesis of DFNA9

Author keywords

COCH gene; Cochlin; CTP; DFNA9; Hereditary hearing impairment; Human; Inner ear; Isoform

Indexed keywords

COCHLIN; COCHLIN TOMOPROTEIN; GENE PRODUCT; ISOPROTEIN; PROTEIN P40; PROTEIN P44; PROTEIN P63; UNCLASSIFIED DRUG;

EID: 0347004634     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2003.12.106     Document Type: Article
Times cited : (45)

References (15)
  • 7
    • 10744220263 scopus 로고    scopus 로고
    • Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease
    • Usami S., Takahashi K., Yuge I., Ohtsuka A., Namba A., Abe S., Fransen E., Patthy L., Otting G., van Camp G. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. Eur. J. Hum. Genet. 11:2003;744-748.
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 744-748
    • Usami, S.1    Takahashi, K.2    Yuge, I.3    Ohtsuka, A.4    Namba, A.5    Abe, S.6    Fransen, E.7    Patthy, L.8    Otting, G.9    Van Camp, G.10
  • 12
    • 0037488241 scopus 로고    scopus 로고
    • Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9
    • Robertson N.G., Hamaker S.A., Patriub v., Aster J.C., Morton C.C. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. J. Med. Genet. 40:2003;479-486.
    • (2003) J. Med. Genet. , vol.40 , pp. 479-486
    • Robertson, N.G.1    Hamaker, S.A.2    Patriub, V.3    Aster, J.C.4    Morton, C.C.5
  • 13
    • 0141920801 scopus 로고    scopus 로고
    • Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin
    • Grabski R., Szul T., Sasaki T., Timpl R., Mayne R., Hicks B., Sztul E. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. Hum. Genet. 113(5):2003;406-416.
    • (2003) Hum. Genet. , vol.113 , Issue.5 , pp. 406-416
    • Grabski, R.1    Szul, T.2    Sasaki, T.3    Timpl, R.4    Mayne, R.5    Hicks, B.6    Sztul, E.7
  • 15
    • 0029011531 scopus 로고
    • Isoelectric focusing as a tool for the investigation of post-translational processing and chemical modifications of proteins
    • Gianazza E. Isoelectric focusing as a tool for the investigation of post-translational processing and chemical modifications of proteins. J. Chromatogr. A. 23:1995;67-87.
    • (1995) J. Chromatogr. a , vol.23 , pp. 67-87
    • Gianazza, E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.