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Volumn 50, Issue 1, 2001, Pages 35-38

Whats new in genodermatoses?

Author keywords

Connexins; Desmosomes; Genodermatoses; Junctions

Indexed keywords

ARTICLE; CELL JUNCTION; GENETIC DISORDER; GENETICS; HUMAN; PHYSIOLOGY; SKIN DISEASE;

EID: 0035291314     PISSN: 00229717     EISSN: None     Source Type: Journal    
DOI: 10.2302/kjm.50.35     Document Type: Article
Times cited : (1)

References (31)
  • 1
    • 0032910126 scopus 로고    scopus 로고
    • Laminins of the dermo-epidermal junction
    • Aumailley M, Rousselle P: Laminins of the dermo-epidermal junction. Matrix Biol 1999; 18: 19-28
    • (1999) Matrix Biol , vol.18 , pp. 19-28
    • Aumailley, M.1    Rousselle, P.2
  • 2
    • 0030767241 scopus 로고    scopus 로고
    • Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity
    • Uitto J, Pulkkinen L, McLean WH: Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today 1997; 3: 457-465
    • (1997) Mol Med Today , vol.3 , pp. 457-465
    • Uitto, J.1    Pulkkinen, L.2    McLean, W.H.3
  • 3
    • 0033020064 scopus 로고    scopus 로고
    • The palmoplantar keratodermas: Much more than palms and soles
    • Kelsell DP, Stevens HP: The palmoplantar keratodermas: much more than palms and soles. Mol Med Today 1999; 5: 107-113
    • (1999) Mol Med Today , vol.5 , pp. 107-113
    • Kelsell, D.P.1    Stevens, H.P.2
  • 4
    • 0031765429 scopus 로고    scopus 로고
    • Diverse functions of vertebrate gap junctions
    • Simon AM, Goodenough DA: Diverse functions of vertebrate gap junctions. Trends Cell Biol 1998; 8: 477-483
    • (1998) Trends Cell Biol , vol.8 , pp. 477-483
    • Simon, A.M.1    Goodenough, D.A.2
  • 5
    • 0033002783 scopus 로고    scopus 로고
    • Genetic diseases and gene knockouts reveal diverse connexin functions
    • White TW, Paul DL: Genetic diseases and gene knockouts reveal diverse connexin functions. Annu Rev Physiol 1999; 61: 283-310
    • (1999) Annu Rev Physiol , vol.61 , pp. 283-310
    • White, T.W.1    Paul, D.L.2
  • 7
    • 0034198467 scopus 로고    scopus 로고
    • Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    • Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000; 8: 141-144
    • (2000) Eur J Hum Genet , vol.8 , pp. 141-144
    • Kelsell, D.P.1    Wilgoss, A.L.2    Richard, G.3    Stevens, H.P.4    Munro, C.S.5    Leigh, I.M.6
  • 8
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deafmutism and palmoplantar keratoderma
    • Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ: Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deafmutism and palmoplantar keratoderma. Hum Genet 1998; 103: 393-399
    • (1998) Hum Genet , vol.103 , pp. 393-399
    • Richard, G.1    White, T.W.2    Smith, L.E.3    Bailey, R.A.4    Compton, J.G.5    Paul, D.L.6    Bale, S.J.7
  • 13
    • 17344373747 scopus 로고    scopus 로고
    • Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
    • Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998; 20: 370-373
    • (1998) Nat Genet , vol.20 , pp. 370-373
    • Xia, J.H.1    Liu, C.Y.2    Tang, B.S.3    Pan, Q.4    Huang, L.5    Dai, H.P.6    Zhang, B.R.7    Xie, W.8    Hu, D.X.9    Zheng, D.10
  • 15
    • 0030047838 scopus 로고    scopus 로고
    • Cytoskeleton-membrane interactions
    • Cowin P, Burke B: Cytoskeleton-membrane interactions. Curr Opin Cell Biol 1996; 8: 56-65
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 56-65
    • Cowin, P.1    Burke, B.2
  • 16
    • 0030006606 scopus 로고    scopus 로고
    • Desmosomes and hemidesmosomes: Structure and function of molecular components
    • Green KJ, Jones JC: Desmosomes and hemidesmosomes: structure and function of molecular components. Faseb J 1996; 10: 871-881
    • (1996) Faseb J , vol.10 , pp. 871-881
    • Green, K.J.1    Jones, J.C.2
  • 22
    • 0030856140 scopus 로고    scopus 로고
    • Plakophilins 1a and 1b: Widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
    • Schmidt A, Langbein L, Rode M, Pratzel S, Zimbelmann R, Franke WW: Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res 1997; 290: 481-499
    • (1997) Cell Tissue Res , vol.290 , pp. 481-499
    • Schmidt, A.1    Langbein, L.2    Rode, M.3    Pratzel, S.4    Zimbelmann, R.5    Franke, W.W.6
  • 23
  • 24
    • 0034673331 scopus 로고    scopus 로고
    • Regulation of heta-catenin signaling in the Wnt pathway
    • Kikuchi A: Regulation of heta-catenin signaling in the Wnt pathway. Biochem Biophys Res Commun 2000; 268: 243-248
    • (2000) Biochem Biophys Res Commun , vol.268 , pp. 243-248
    • Kikuchi, A.1
  • 25
    • 0032953231 scopus 로고    scopus 로고
    • A common human skin tumour is caused by activating mutations in beta-catenin
    • Chan EF, Gat U, McNiff JM, Fuchs E: A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet 1999; 21: 410-413
    • (1999) Nat Genet , vol.21 , pp. 410-413
    • Chan, E.F.1    Gat, U.2    McNiff, J.M.3    Fuchs, E.4
  • 29
    • 0032877634 scopus 로고    scopus 로고
    • ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
    • Ruiz-Perez, VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P: ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum Mol Genet 1999; 8: 1621-1630
    • (1999) Hum Mol Genet , vol.8 , pp. 1621-1630
    • Ruiz-Perez, V.L.1    Carter, S.A.2    Healy, E.3    Todd, C.4    Rees, J.L.5    Steijlen, P.M.6    Carmichael, A.J.7    Lewis, H.M.8    Hohl, D.9    Itin, P.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.