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A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
Hovnanian, A; Pollack, E; Hilal, L; Rochat, A; Prost, C; Barrandon, Y; Goossens, M.
Afiliação
  • Hovnanian A; Laboratoire de Génétique moléculaire, INSERM U.91, Hôpital Henri Mondor, Créteil, France.
Nat Genet ; 3(4): 327-32, 1993 Apr.
Article em En | MEDLINE | ID: mdl-7526933
ABSTRACT
Epidermolysis bullosa simplex (EBS) is a group of epidermal blistering diseases almost invariably transmitted as a dominant trait, which has recently been shown to arise from mutations in keratins 14 and 5 (K14 and K5). We describe a family with recessive EBS in which the disease is tightly linked to the substitution of the highly conserved glutamic acid-144 to alanine in the first helical segment of the rod domain of keratin 14. In contrast, linkage with keratin 5 was excluded. The loss of an ionic interaction with keratin 5 is likely to affect K14-K5 heterodimer formation. Our data suggest that this mutation underlies EBS in our family, and that mutations in keratin genes may impair the mechanical integrity of basal keratinocytes in a recessive as well as dominant fashion.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa / Genes Recessivos / Queratinas Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 1993 Tipo de documento: Article País de afiliação: França
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa / Genes Recessivos / Queratinas Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 1993 Tipo de documento: Article País de afiliação: França