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Volumn 12, Issue 14, 2003, Pages 1737-1744

Targeted epidermal expression of mutant connexins 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; KERATIN; LORICRIN; UNCLASSIFIED DRUG;

EID: 0042309578     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg183     Document Type: Article
Times cited : (67)

References (42)
  • 1
    • 0032967211 scopus 로고    scopus 로고
    • Genes, gene knockouts, and mutations in the analysis of gap junctions
    • Lo, C.W., (1999) Genes, gene knockouts, and mutations in the analysis of gap junctions. Dev. Genet., 24, 1-4.
    • (1999) Dev. Genet. , vol.24 , pp. 1-4
    • Lo, C.W.1
  • 2
    • 0035186795 scopus 로고    scopus 로고
    • Human diseases: Clues to cracking the connexin code?
    • Kelsell, D.P., Dunlop, J. and Hodgins, M.B. (2001) Human diseases: clues to cracking the connexin code? Trends Cell Biol., 11, 2-6.
    • (2001) Trends Cell Biol. , vol.11 , pp. 2-6
    • Kelsell, D.P.1    Dunlop, J.2    Hodgins, M.B.3
  • 3
    • 0035991948 scopus 로고    scopus 로고
    • Gap junctions: Structure and function
    • (Review.)
    • Evans, W.H. and Martin, P.E.M. (2002) Gap junctions: structure and function. (Review.) Mol. Membr. Biol., 19, 121-136.
    • (2002) Mol. Membr. Biol. , vol.19 , pp. 121-136
    • Evans, W.H.1    Martin, P.E.M.2
  • 5
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L., Govea, N., Mila, M., Monica, M.D., Lutfi, J., Shohat, M. et al. (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) 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    Monica, M.D.8    Lutfi, J.9    Shohat, M.10
  • 10
    • 17344373747 scopus 로고    scopus 로고
    • Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
    • [Erratum, Nat. Genet., 21, 241 (1999).]
    • Xia, J., Liu, C., Tang, B., Pan, Q., Huang, L., Dai, H., Zhang, B., Xie, W., Hu, D., Zheng, D. et al. (1999) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat. Genet., 20, 370-373. [Erratum, Nat. Genet., 21, 241 (1999).]
    • (1999) Nat. Genet. , vol.20 , pp. 370-373
    • Xia, J.1    Liu, C.2    Tang, B.3    Pan, Q.4    Huang, L.5    Dai, H.6    Zhang, B.7    Xie, W.8    Hu, D.9    Zheng, D.10
  • 13
    • 0031959735 scopus 로고    scopus 로고
    • A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q
    • Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A. and Bhattacharya, S. (1998) A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q. Am. J. Hum. Genet., 62, 526-532.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 526-532
    • Shiels, A.1    Mackay, D.2    Ionides, A.3    Berry, V.4    Moore, A.5    Bhattacharya, S.6
  • 17
    • 0032790899 scopus 로고    scopus 로고
    • A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    • Maestrini, E., Korge, B.P., Ocana-Sierra, J., Calzolari, E., Cambiaghi, S., Scudder, P.M., Hovnanian, A., Monaco, A.P. and Munro, C.S. (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum. Mol. Genet., 8, 1237-1243.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1237-1243
    • Maestrini, E.1    Korge, B.P.2    Ocana-Sierra, J.3    Calzolari, E.4    Cambiaghi, S.5    Scudder, P.M.6    Hovnanian, A.7    Monaco, A.P.8    Munro, C.S.9
  • 19
    • 0036230429 scopus 로고    scopus 로고
    • A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
    • van Steensel, M.A.M., van Geel, M., Nahuys, M., Smitt, J.H.S. and Steijlen, P.M. (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J. Invest. Dermatol., 118, 724-727.
    • (2002) J. Invest. Dermatol. , vol.118 , pp. 724-727
    • van Steensel, M.A.M.1    van Geel, M.2    Nahuys, M.3    Smitt, J.H.S.4    Steijlen, P.M.5
  • 20
    • 0035096676 scopus 로고    scopus 로고
    • Connexin mutations in skin disease and hearing loss
    • Kelsell, D.P., Di, W.L. and Houseman, M.J. (2001) Connexin mutations in skin disease and hearing loss. Am. J. Hum. Genet., 68, 559-568.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 559-568
    • Kelsell, D.P.1    Di, W.L.2    Houseman, M.J.3
  • 22
    • 0033002783 scopus 로고    scopus 로고
    • Genetic diseases and gene knockouts reveal diverse connexin functions
    • White, T.W. and Paul, D.L. (1999) Genetic diseases and gene knockouts reveal diverse connexin functions. A. Rev. Physiol., 61, 283-310.
    • (1999) A. Rev. Physiol. , vol.61 , pp. 283-310
    • White, T.W.1    Paul, D.L.2
  • 24
    • 0037059499 scopus 로고    scopus 로고
    • Unique and redundant connexin contributions to lens development
    • White, T.W. (2002) Unique and redundant connexin contributions to lens development. Science, 295, 319-320.
    • (2002) Science , vol.295 , pp. 319-320
    • White, T.W.1
  • 27
    • 0033024635 scopus 로고    scopus 로고
    • Up-regulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium and buccal epithelium
    • Lucke, T., Choudhry, R., Thom, R., Selmer, I.S., Burden, A.D. and Hodgins, M.B. (1999) Up-regulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium and buccal epithelium. J. Invest. Dermatol., 112, 354-361.
    • (1999) J. Invest. Dermatol. , vol.112 , pp. 354-361
    • Lucke, T.1    Choudhry, R.2    Thom, R.3    Selmer, I.S.4    Burden, A.D.5    Hodgins, M.B.6
  • 29
    • 0035750741 scopus 로고    scopus 로고
    • Connexin 26 expression and mutation analysis in epidermal disease
    • Di, W.L., Common, J.E. and Kelsell, D.P. (2001) Connexin 26 expression and mutation analysis in epidermal disease. Cell Commun. Adhes., 8, 415-418.
    • (2001) Cell Commun. Adhes. , vol.8 , pp. 415-418
    • Di, W.L.1    Common, J.E.2    Kelsell, D.P.3
  • 30
    • 0036501610 scopus 로고    scopus 로고
    • A Gja8 (Cx50) point mutation causes an alteration of alpha-3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
    • Chang, B., Wang, X., Hawes, N.L., Ojakian, R., Davisson, M.T., Lo, W.-K. and Gong, X. (2002) A Gja8 (Cx50) point mutation causes an alteration of alpha-3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum. Mol. Genet., 11, 507-513.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 507-513
    • Chang, B.1    Wang, X.2    Hawes, N.L.3    Ojakian, R.4    Davisson, M.T.5    Lo, W.-K.6    Gong, X.7
  • 31
    • 0034961003 scopus 로고    scopus 로고
    • Trans-dominant inhibition of connexin 43 by mutant connexin 26: Implications for dominant connexin disorders affecting epidermal differentiation
    • Rouan, F., White, T.W., Brown, N., Taylor, A.M., Lucke, T.W., Paul, D.L., Munro, C.S., Uitto, J., Hodgins, M.B. and Richard, G. (2001) Trans-dominant inhibition of connexin 43 by mutant connexin 26: implications for dominant connexin disorders affecting epidermal differentiation. J. Cell Sci., 114, 2105-2113.
    • (2001) J. Cell Sci. , vol.114 , pp. 2105-2113
    • Rouan, F.1    White, T.W.2    Brown, N.3    Taylor, A.M.4    Lucke, T.W.5    Paul, D.L.6    Munro, C.S.7    Uitto, J.8    Hodgins, M.B.9    Richard, G.10
  • 33
    • 0034773461 scopus 로고    scopus 로고
    • Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31
    • Di, W.L., Rugg, E.L., Leigh, I.M. and Kelsell, D.P. (2001) Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31. J. Invest. Dermatol., 117, 958-964.
    • (2001) J. Invest. Dermatol. , vol.117 , pp. 958-964
    • Di, W.L.1    Rugg, E.L.2    Leigh, I.M.3    Kelsell, D.P.4
  • 34
    • 0036382811 scopus 로고    scopus 로고
    • Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells
    • Diestel, S., Richard, G., Doring, B. and Traub, O. (2002) Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Biochem. Biophys. Res. Commun., 296, 721-728.
    • (2002) Biochem. Biophys. Res. Commun. , vol.296 , pp. 721-728
    • Diestel, S.1    Richard, G.2    Doring, B.3    Traub, O.4
  • 35
    • 0242684552 scopus 로고    scopus 로고
    • Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant effect on connexin 30
    • Marziano, N.K., Casalotti, S.O., Portelli, A.E., Becker D.L. and Forge, A. (2003) Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant effect on connexin 30. Hum. Mol. Genet., 12, 805-812.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 805-812
    • Marziano, N.K.1    Casalotti, S.O.2    Portelli, A.E.3    Becker, D.L.4    Forge, A.5
  • 37
    • 0030763564 scopus 로고    scopus 로고
    • The molecular pathology of progressive symmetric erythrokeratoderma: A frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope
    • Ishida-Yamamoto, A., McGrath, J.A., Lam, H., Iizuka, H., Friedman, R.A. and Christiano, A.M. (1997) The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am. J. Hum. Genet., 61, 581-589.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 581-589
    • Ishida-Yamamoto, A.1    McGrath, J.A.2    Lam, H.3    Iizuka, H.4    Friedman, R.A.5    Christiano, A.M.6
  • 40
    • 0034675977 scopus 로고    scopus 로고
    • Transgenic mice expressing a mutant form of Loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma
    • Suga, Y., Jarnik, M., Attar, P.S., Longley, M.A., Bundman, D., Steven, A.C., Koch, P.J. and Roop, D.R. (2000) Transgenic mice expressing a mutant form of Loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. J. Cell Biol., 151, 401-412.
    • (2000) J. Cell Biol. , vol.151 , pp. 401-412
    • Suga, Y.1    Jarnik, M.2    Attar, P.S.3    Longley, M.A.4    Bundman, D.5    Steven, A.C.6    Koch, P.J.7    Roop, D.R.8
  • 41
    • 0027436839 scopus 로고
    • Overexpression of human loricrin in transgenic mice produces a normal phenotype
    • Yoneda, K. and Steinert, P.M. (1993) Overexpression of human loricrin in transgenic mice produces a normal phenotype. Proc. Natl Acad. Sci. USA, 90, 10754-10758.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 10754-10758
    • Yoneda, K.1    Steinert, P.M.2
  • 42
    • 0025041030 scopus 로고
    • Skin hyperkeratosis and papilloma formation in transgenic mice expressing a ras oncogene from a suprabasal keratin promoter
    • Bailleul, B., Surani, M.A., White, S., Barton, S.C., Brown, K., Blessing M., Jorcano, J. and Balmain, A. (1990) Skin hyperkeratosis and papilloma formation in transgenic mice expressing a ras oncogene from a suprabasal keratin promoter. Cell, 62, 697-708.
    • (1990) Cell , vol.62 , pp. 697-708
    • Bailleul, B.1    Surani, M.A.2    White, S.3    Barton, S.C.4    Brown, K.5    Blessing, M.6    Jorcano, J.7    Balmain, A.8


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