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rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0079298,
umls-concept:C0206427,
umls-concept:C0332281,
umls-concept:C0599155,
umls-concept:C0669391,
umls-concept:C1416717,
umls-concept:C1514562,
umls-concept:C1552915,
umls-concept:C1705186,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221,
umls-concept:C1947942,
umls-concept:C2347970,
umls-concept:C2347971
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|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1995-1-5
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|
pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1061-4036
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
3
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
327-32
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7526933-Alanine,
pubmed-meshheading:7526933-Amino Acid Sequence,
pubmed-meshheading:7526933-Base Sequence,
pubmed-meshheading:7526933-Cells, Cultured,
pubmed-meshheading:7526933-Conserved Sequence,
pubmed-meshheading:7526933-DNA Primers,
pubmed-meshheading:7526933-Epidermolysis Bullosa,
pubmed-meshheading:7526933-Female,
pubmed-meshheading:7526933-Genes, Dominant,
pubmed-meshheading:7526933-Genes, Recessive,
pubmed-meshheading:7526933-Genetic Linkage,
pubmed-meshheading:7526933-Glutamic Acid,
pubmed-meshheading:7526933-Humans,
pubmed-meshheading:7526933-Keratinocytes,
pubmed-meshheading:7526933-Keratins,
pubmed-meshheading:7526933-Macromolecular Substances,
pubmed-meshheading:7526933-Male,
pubmed-meshheading:7526933-Molecular Sequence Data,
pubmed-meshheading:7526933-Polymerase Chain Reaction,
pubmed-meshheading:7526933-Protein Structure, Secondary,
pubmed-meshheading:7526933-Skin
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pubmed:year |
1993
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pubmed:articleTitle |
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
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pubmed:affiliation |
Laboratoire de Génétique moléculaire, INSERM U.91, Hôpital Henri Mondor, Créteil, France.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
