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Volumn 64, Issue 6, 1999, Pages 1604-1616

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and novel gene containing WD-40 repeats

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EID: 0033361795     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302408     Document Type: Article
Times cited : (95)

References (34)
  • 7
    • 0024828067 scopus 로고
    • The prevalence of hearing impairment and reported hearing disability among adults in Great Britain
    • Davis AC (1989) The prevalence of hearing impairment and reported hearing disability among adults in Great Britain. Int J Epidemiol 18:911-917
    • (1989) Int J Epidemiol , vol.18 , pp. 911-917
    • Davis, A.C.1
  • 9
    • 0032422037 scopus 로고    scopus 로고
    • Mapping of the murine tbl1 gene reveals a new rearrangement between mouse and human X chromosomes
    • Disteche CM, Dinulos MB, Bassi MT, Elliott RW, Rugarli EI (1998) Mapping of the murine tbl1 gene reveals a new rearrangement between mouse and human X chromosomes. Mamm Genome 9:1062-1064
    • (1998) Mamm Genome , vol.9 , pp. 1062-1064
    • Disteche, C.M.1    Dinulos, M.B.2    Bassi, M.T.3    Elliott, R.W.4    Rugarli, E.I.5
  • 12
    • 0025938481 scopus 로고
    • A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
    • Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, et al (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529-536
    • (1991) Nature , vol.353 , pp. 529-536
    • Franco, B.1    Guioli, S.2    Pragliola, A.3    Incerti, B.4    Bardoni, B.5    Tonlorenzi, R.6    Carrozzo, R.7
  • 13
    • 0028924667 scopus 로고
    • A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy
    • Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, et al (1995) A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy. Cell 81:15-25
    • (1995) Cell , vol.81 , pp. 15-25
    • Franco, B.1    Meroni, G.2    Parenti, G.3    Levilliers, J.4    Bernard, L.5    Gebbia, M.6    Cox, L.7
  • 15
    • 0028017335 scopus 로고
    • Fishing for complements: Finding genes by direct selection
    • Lovett M (1994) Fishing for complements: finding genes by direct selection. Trends Genet 10:352-357
    • (1994) Trends Genet , vol.10 , pp. 352-357
    • Lovett, M.1
  • 16
    • 0027938144 scopus 로고
    • Analysis of a 70 kb region on the right arm of yeast chromosome II
    • Mannhaupt G, Stucka R, Ehnle S, Vetter I, Feldmann H (1994) Analysis of a 70 kb region on the right arm of yeast chromosome II. Yeast 10:1363-1381
    • (1994) Yeast , vol.10 , pp. 1363-1381
    • Mannhaupt, G.1    Stucka, R.2    Ehnle, S.3    Vetter, I.4    Feldmann, H.5
  • 17
    • 0023829903 scopus 로고
    • "DNA Strider": A "C" program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers
    • Marck C (1988) "DNA Strider": a "C" program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers. Nucleic Acids Res 16:1829-1836
    • (1988) Nucleic Acids Res , vol.16 , pp. 1829-1836
    • Marck, C.1
  • 18
    • 0028076764 scopus 로고
    • The ancient regulatory-protein family of WD-repeat proteins
    • Neer EJ, Schmidt CJ, Nambudripad R, Smith TF (1994) The ancient regulatory-protein family of WD-repeat proteins. Nature 371:297-300
    • (1994) Nature , vol.371 , pp. 297-300
    • Neer, E.J.1    Schmidt, C.J.2    Nambudripad, R.3    Smith, T.F.4
  • 20
    • 16944365777 scopus 로고    scopus 로고
    • Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new ring finger gene on Xp22
    • Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, et al (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new ring finger gene on Xp22. Nat Genet 17:285-291
    • (1997) Nat Genet , vol.17 , pp. 285-291
    • Quaderi, N.A.1    Schweiger, S.2    Gaudenz, K.3    Franco, B.4    Rugarli, E.I.5    Berger, W.6    Feldman, G.J.7
  • 21
    • 0029923473 scopus 로고    scopus 로고
    • Around the genomes: The Drosophila genome project
    • Rubin GM (1996) Around the genomes: the Drosophila genome project. Genome Res 6:71-79
    • (1996) Genome Res , vol.6 , pp. 71-79
    • Rubin, G.M.1
  • 22
    • 0027278607 scopus 로고
    • Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
    • Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A, Eichele G (1993) Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet 4:19-25
    • (1993) Nat Genet , vol.4 , pp. 19-25
    • Rugarli, E.I.1    Lutz, B.2    Kuratani, S.C.3    Wawersik, S.4    Borsani, G.5    Ballabio, A.6    Eichele, G.7
  • 25
    • 0028907718 scopus 로고
    • Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region
    • Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A (1995) Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet 4:373-382
    • (1995) Hum Mol Genet , vol.4 , pp. 373-382
    • Schiaffino, M.V.1    Bassi, M.T.2    Rugarli, E.I.3    Renieri, A.4    Galli, L.5    Ballabio, A.6
  • 27
    • 0030034646 scopus 로고    scopus 로고
    • Crystal structure of a GA protein bg dimer at 2.1 resolution
    • Sondek J, Bohm A, Lambright DG, Hamm HE, Sigler PB (1996) Crystal structure of a GA protein bg dimer at 2.1 resolution. Nature 379:369-374
    • (1996) Nature , vol.379 , pp. 369-374
    • Sondek, J.1    Bohm, A.2    Lambright, D.G.3    Hamm, H.E.4    Sigler, P.B.5
  • 28
    • 0030925920 scopus 로고    scopus 로고
    • Pfam: A comprehensive database of protein domain families based on seed alignments
    • Sonnhammer EL, Eddy SR, Durbin R (1997) Pfam: a comprehensive database of protein domain families based on seed alignments. Proteins 28:405-420
    • (1997) Proteins , vol.28 , pp. 405-420
    • Sonnhammer, E.L.1    Eddy, S.R.2    Durbin, R.3
  • 29
    • 0027237551 scopus 로고
    • Saccharomyces cerevisiae cdc15 mutants arrested at a late stage in anaphase are rescued by Xenopus cDNAs encoding N-ras or a protein with β-transducin repeats
    • Spevak W, Keiper BD, Stratowa C, Castanon MJ (1993) Saccharomyces cerevisiae cdc15 mutants arrested at a late stage in anaphase are rescued by Xenopus cDNAs encoding N-ras or a protein with β-transducin repeats. Mol Cell Biol 13:4953-4966
    • (1993) Mol Cell Biol , vol.13 , pp. 4953-4966
    • Spevak, W.1    Keiper, B.D.2    Stratowa, C.3    Castanon, M.J.4
  • 30
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 32
    • 0027313285 scopus 로고
    • The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of the critical regions
    • Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, et al (1993) The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet 2:947-952
    • (1993) Hum Mol Genet , vol.2 , pp. 947-952
    • Wapenaar, M.C.1    Bassi, M.T.2    Schaefer, L.3    Grillo, A.4    Ferrero, G.B.5    Chinault, A.C.6    Ballabio, A.7
  • 33
    • 0021685461 scopus 로고
    • X-linked inheritance of ocular albinism with late-onset sensorineural deafness
    • Winship I, Gericke G, Beighton P (1984) X-linked inheritance of ocular albinism with late-onset sensorineural deafness. Am J Med Genet 19:797-803
    • (1984) Am J Med Genet , vol.19 , pp. 797-803
    • Winship, I.1    Gericke, G.2    Beighton, P.3
  • 34
    • 0027440498 scopus 로고
    • X-linked ocular albinism and sensorineural deafness: Linkage to Xp22.3
    • Winship IM, Babaya M, Ramesar RS (1993) X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. Genomics 18:444-445
    • (1993) Genomics , vol.18 , pp. 444-445
    • Winship, I.M.1    Babaya, M.2    Ramesar, R.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.