메뉴 건너뛰기




Volumn 8, Issue 3, 1999, Pages 439-452

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COCHLEA; CONGENITAL DEAFNESS; DATA BASE; DNA LIBRARY; EXPRESSED SEQUENCE TAG; GENE EXPRESSION; GENE SEQUENCE; HUMAN; INTERNET; MULTIGENE FAMILY; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0033051643     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.3.439     Document Type: Article
Times cited : (65)

References (39)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton, N.E. (1991) Genetic epidemiology of hearing impairment. Ann. NY Acad. Sci., 630, 16-31.
    • (1991) Ann. NY Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 2
    • 0344713069 scopus 로고    scopus 로고
    • Center for Medical Genetics, Johns Hopkins University, Baltimore, MD, and National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD
    • Online Mendelian Inheritence in Man (OMIM) (1997) http:// www3.ncbi.nlm.nih.gov/omim/. Center for Medical Genetics, Johns Hopkins University, Baltimore, MD, and National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD.
    • (1997)
  • 3
    • 0030946546 scopus 로고    scopus 로고
    • Nonsyndromic hearing impairment: Unparalleled heterogeneity
    • Van Camp, G., Willems, P.J. and Smith, R.J.H. (1997) Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet., 60, 758-764.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 758-764
    • Van Camp, G.1    Willems, P.J.2    Smith, R.J.H.3
  • 5
    • 0030707797 scopus 로고    scopus 로고
    • Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
    • Lynch, E.D., Lee, M.K., Morrow, J.E., Welcsh, P.L., Leon, P.E. and King, M.C. (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science, 278, 1315-1318.
    • (1997) Science , vol.278 , pp. 1315-1318
    • Lynch, E.D.1    Lee, M.K.2    Morrow, J.E.3    Welcsh, P.L.4    Leon, P.E.5    King, M.C.6
  • 11
    • 0032011145 scopus 로고    scopus 로고
    • A mutation in PDS, the gene responsible for Pendred syndrome, also causes nonsyndromic recessive deafness
    • Li, X.C., Everett, L.A., Lalwani, A.K., Desmukh, D., Friedman, T.B., Green, E.D. and Wilcox, E.R. (1998) A mutation in PDS, the gene responsible for Pendred syndrome, also causes nonsyndromic recessive deafness. Nature Genet., 18, 215-217.
    • (1998) Nature Genet. , vol.18 , pp. 215-217
    • Li, X.C.1    Everett, L.A.2    Lalwani, A.K.3    Desmukh, D.4    Friedman, T.B.5    Green, E.D.6    Wilcox, E.R.7
  • 18
    • 0028169393 scopus 로고
    • Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening
    • Robertson, N.G., Khetarpal, U., Gutierrez-Espelata, G.A., Bieber, F.R. and Morton, C.C. (1994) Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics, 23, 42-50.
    • (1994) Genomics , vol.23 , pp. 42-50
    • Robertson, N.G.1    Khetarpal, U.2    Gutierrez-Espelata, G.A.3    Bieber, F.R.4    Morton, C.C.5
  • 20
    • 0029889221 scopus 로고    scopus 로고
    • Local alignment statistics
    • Altschul, S.F. and Gish, W. (1996) Local alignment statistics. Methods Enzymol., 266, 460-480.
    • (1996) Methods Enzymol. , vol.266 , pp. 460-480
    • Altschul, S.F.1    Gish, W.2
  • 21
    • 0027175241 scopus 로고
    • Applications and statistics for multiple high-scoring segments in molecular sequences
    • Karlin, S. and Altschul, S.F. (1993) Applications and statistics for multiple high-scoring segments in molecular sequences. Proc. Natl Acad. Sci. USA, 90, 5873-5877.
    • (1993) Proc. Natl Acad. Sci. USA , vol.90 , pp. 5873-5877
    • Karlin, S.1    Altschul, S.F.2
  • 23
    • 0030696315 scopus 로고    scopus 로고
    • Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: Implications for genetic studies in isolated populations
    • Carrasquillo, M.M., Zlotogora, J., Barges, S. and Chakravarti, A. (1997) Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: implications for genetic studies in isolated populations. Hum. Mol. Genet., 6, 2163-2172.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2163-2172
    • Carrasquillo, M.M.1    Zlotogora, J.2    Barges, S.3    Chakravarti, A.4
  • 24
    • 9844245885 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNBI) in Mediterraneans
    • Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L., Govea, N., Mila, M. et al. (1997) Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNBI) in Mediterraneans. Hum. Mol. Genet., 6, 1605-1609.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3    Melchionda, S.4    D'Agruma, L.5    Govea, N.6    Mila, M.7
  • 25
    • 0345055300 scopus 로고    scopus 로고
    • Connexin 26 mutations in sporadic nonsyndromic sensorineural deafness
    • Lench, N., Houseman, M., Newton, V., Van Camp, G. and Mueller, R. (1998) Connexin 26 mutations in sporadic nonsyndromic sensorineural deafness. Lancet, 351, 415.
    • (1998) Lancet , vol.351 , pp. 415
    • Lench, N.1    Houseman, M.2    Newton, V.3    Van Camp, G.4    Mueller, R.5
  • 26
    • 0019131404 scopus 로고
    • Hearing patterns in dominant osteogenesis imperfecta
    • Riedner, E.D., Levin, L.S. and Holliday, M.J. (1980) Hearing patterns in dominant osteogenesis imperfecta. Arch. Otolaryngol., 106, 737-740.
    • (1980) Arch. Otolaryngol. , vol.106 , pp. 737-740
    • Riedner, E.D.1    Levin, L.S.2    Holliday, M.J.3
  • 28
    • 0029833063 scopus 로고    scopus 로고
    • A family with Stickler syndrome type 2 has a mutation in the COLIIA1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen
    • Richards, A.J., Yates, J.R.W., Williams, R., Payne, S.J., Pope, F.M., Scott, J.D. and Snead, M.P. (1996) A family with Stickler syndrome type 2 has a mutation in the COLIIA1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Hum. Mol. Genet., 5, 1339-1343.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1339-1343
    • Richards, A.J.1    Yates, J.R.W.2    Williams, R.3    Payne, S.J.4    Pope, F.M.5    Scott, J.D.6    Snead, M.P.7
  • 31
    • 0025149738 scopus 로고
    • Expression and activity of the POU transcription factor SCIP
    • Monuki, E.S , Kuhn, R., Weinmaster, G., Trapp, B.D. andLemke, G. (1990) Expression and activity of the POU transcription factor SCIP. Science, 249, 1300-1303.
    • (1990) Science , vol.249 , pp. 1300-1303
    • Monuki, E.S.1    Kuhn, R.2    Weinmaster, G.3    Trapp, B.D.4    Lemke, G.5
  • 34
    • 0031573922 scopus 로고    scopus 로고
    • Mapping and characterization of a novel cochlear gene in human and in mouse: A positional candidate gene for a deafness disorder, DFNA9
    • Robertson, N.G., Skvorak, A.B., Yin, Y., Weremowicz, S., Johnson, K.R., Kovatch, K.A., Battey, J.F., Bieber, F.R. and Morton, C.C. (1997) Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics, 46, 345-354.
    • (1997) Genomics , vol.46 , pp. 345-354
    • Robertson, N.G.1    Skvorak, A.B.2    Yin, Y.3    Weremowicz, S.4    Johnson, K.R.5    Kovatch, K.A.6    Battey, J.F.7    Bieber, F.R.8    Morton, C.C.9
  • 35
    • 0344713061 scopus 로고    scopus 로고
    • The Jackson Laboratory, Bar Harbor, ME
    • Mouse Genome Database (MGD) (1997) http://www.informatics.jax.org/. The Jackson Laboratory, Bar Harbor, ME.
    • (1997)
  • 36
    • 0030005755 scopus 로고    scopus 로고
    • The I.M.A.G.E. Consortium: An integrated molecular analysis of genomes and their expression
    • Lennon, G.G., Auffray, C., Polymeropoulos, M. and Soares, M.B. (1996) The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics, 33, 151-152.
    • (1996) Genomics , vol.33 , pp. 151-152
    • Lennon, G.G.1    Auffray, C.2    Polymeropoulos, M.3    Soares, M.B.4
  • 38
    • 0031467111 scopus 로고    scopus 로고
    • Identification of an ancient conserved gene expressed in the human inner ear: Chromosomal mapping of human and mouse antiquitin and analysis of expression
    • Skvorak, A.B., Robertson, N.R., Yin, Y., Weremowicz, S., Lynch, E.D., Her, H., Beisel, K.W., Bieber, F.R., Beier, D.R. and Morton, C.C. (1997) Identification of an ancient conserved gene expressed in the human inner ear: chromosomal mapping of human and mouse antiquitin and analysis of expression. Genomics, 46, 191-199.
    • (1997) Genomics , vol.46 , pp. 191-199
    • Skvorak, A.B.1    Robertson, N.R.2    Yin, Y.3    Weremowicz, S.4    Lynch, E.D.5    Her, H.6    Beisel, K.W.7    Bieber, F.R.8    Beier, D.R.9    Morton, C.C.10
  • 39
    • 0025131820 scopus 로고
    • Radiation hybrid mapping: A somatic cell genetic method for construction of high resolution maps of mammalian chromosomes
    • Cox, D.R., Burmeister, M., Price, E.R., Kim, S. and Myers, R.M. (1990) Radiation hybrid mapping: a somatic cell genetic method for construction of high resolution maps of mammalian chromosomes. Science, 250, 245-250.
    • (1990) Science , vol.250 , pp. 245-250
    • Cox, D.R.1    Burmeister, M.2    Price, E.R.3    Kim, S.4    Myers, R.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.