메뉴 건너뛰기




Volumn 109, Issue 6, 1997, Pages 815-816

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara

Author keywords

Keratin genes; Mutation detection

Indexed keywords

KERATIN; KERATIN 5; UNCLASSIFIED DRUG;

EID: 0031434675     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12341024     Document Type: Article
Times cited : (19)

References (13)
  • 1
    • 0030455978 scopus 로고    scopus 로고
    • Human keratin diseases. Hereditary facility of specific epithelial tissues
    • L.D. Corden W.H.I. McLean Human keratin diseases. Hereditary facility of specific epithelial tissues Exp Dermatol 5 1996 297 307
    • (1996) Exp Dermatol , vol.5 , pp. 297-307
    • Corden, L.D.1    McLean, W.H.I.2
  • 2
    • 0000171747 scopus 로고
    • Epidermolysis bullosa dermatitis herpetiformis
    • G.B. Dowling K.H. Meara Epidermolysis bullosa dermatitis herpetiformis Br J Dermatol 66 1954 139 143
    • (1954) Br J Dermatol , vol.66 , pp. 139-143
    • Dowling, G.B.1    Meara, K.H.2
  • 3
    • 0023767372 scopus 로고
    • The sequence of the human epidermal 58-KD (=5) type-II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins
    • R.L. Eckert E.A. Rorke The sequence of the human epidermal 58-KD (=5) type-II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins DNA 7 1988 337 345
    • (1988) DNA , vol.7 , pp. 337-345
    • Eckert, R.L.1    Rorke, E.A.2
  • 4
    • 0029064080 scopus 로고
    • A common keratin 5 gene mutation in epidermolysis bullosa simplex Weber-Cockayne
    • P. Ehrlich V.P. Sybert A. Spencer K. Stephens A common keratin 5 gene mutation in epidermolysis bullosa simplex Weber-Cockayne J Invest Dermatol 104 1995 877 879
    • (1995) J Invest Dermatol , vol.104 , pp. 877-879
    • Ehrlich, P.1    Sybert, V.P.2    Spencer, A.3    Stephens, K.4
  • 5
    • 0025882273 scopus 로고
    • Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal of the rod domain
    • M. Hatzfeld K. Weber Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal of the rod domain J Cell Sci 99 1991 351 362
    • (1991) J Cell Sci , vol.99 , pp. 351-362
    • Hatzfeld, M.1    Weber, K.2
  • 6
    • 0025992821 scopus 로고
    • Epidermolysis bullosa simplex (Dowling–Meara type) is a genetic disease characterized by an abnormal keratin filament network involving keratins K5 and K14
    • A. Ishida-Yamamoto J.A. McGrath S.J. Chapman I.M. Leigh E.B. Lane R.A.J. Eady Epidermolysis bullosa simplex (Dowling–Meara type) is a genetic disease characterized by an abnormal keratin filament network involving keratins K5 and K14 J Invest Dermatol 97 1991 959 968
    • (1991) J Invest Dermatol , vol.97 , pp. 959-968
    • Ishida-Yamamoto, A.1    McGrath, J.A.2    Chapman, S.J.3    Leigh, I.M.4    Lane, E.B.5    Eady, R.A.J.6
  • 8
    • 0021854339 scopus 로고
    • Complete sequence of a gene encoding a human type I keratin: sequences homologus to enhancer elements in regulatory region of the gene
    • K.D. Marchuck S. McCrohen E. Fuchs Complete sequence of a gene encoding a human type I keratin: sequences homologus to enhancer elements in regulatory region of the gene Proc Natl Acad Sci USA 82 1985 1609 1613
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 1609-1613
    • Marchuck, K.D.1    McCrohen, S.2    Fuchs, E.3
  • 9
    • 9344267213 scopus 로고    scopus 로고
    • A novel keratin K5 gene mutation in Dowling Meara epidermolysis bullosa simplex
    • K. Nomura H. Shimizu X. Meng A novel keratin K5 gene mutation in Dowling Meara epidermolysis bullosa simplex J Invest Dermatol 107 1996 253 254
    • (1996) J Invest Dermatol , vol.107 , pp. 253-254
    • Nomura, K.1    Shimizu, H.2    Meng, X.3
  • 10
    • 0027730471 scopus 로고
    • Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses
    • P.M. Steinert J.M. Yang S.J. Bale J.G. Compton Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses Biochem Biophys Res Commun 197 1993 840 848
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 840-848
    • Steinert, P.M.1    Yang, J.M.2    Bale, S.J.3    Compton, J.G.4
  • 11
    • 0031052765 scopus 로고    scopus 로고
    • Primers for Exo-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients
    • K. Stephens P. Ehrlich M. Weaver R. Le A. Spencer V.P. Sybert Primers for Exo-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients J Invest Dermatol 108 1997 349 353
    • (1997) J Invest Dermatol , vol.108 , pp. 349-353
    • Stephens, K.1    Ehrlich, P.2    Weaver, M.3    Le, R.4    Spencer, A.5    Sybert, V.P.6
  • 12
    • 0025976155 scopus 로고
    • Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
    • K. Vassar P.A. Coulombe L. Degenstein K. Albers E. Fuchs Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease Cell 64 1991 365 380
    • (1991) Cell , vol.64 , pp. 365-380
    • Vassar, K.1    Coulombe, P.A.2    Degenstein, L.3    Albers, K.4    Fuchs, E.5
  • 13
    • 0026640553 scopus 로고
    • The roles of K5 and K14 head, tail and R/KLLEGE domains in keratin filament assembly in vitro
    • A.K. Wilson P.A. Coulombe E. Fuchs The roles of K5 and K14 head, tail and R/KLLEGE domains in keratin filament assembly in vitro J Cell Biol 119 1992 401 412
    • (1992) J Cell Biol , vol.119 , pp. 401-412
    • Wilson, A.K.1    Coulombe, P.A.2    Fuchs, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.