Source:http://linkedlifedata.com/resource/pubmed/id/19874353
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
7
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pubmed:dateCreated |
2010-9-13
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pubmed:abstractText |
Keratins are heteropolymeric proteins that form the intermediate filament cytoskeleton in epithelial cells. The common basic structure of all keratins is organized in a central ?-helical rod domain flanked by nonhelical, variable head and tail regions. Most mutations in keratins are found in the central ?-helical rod domain. Keratin 9 (K9) is expressed only in the suprabasal layers of palmoplantar epidermis. Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to the palms and soles, and histologically by epidermolysis in suprabasal layers of the epidermis.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1365-2230
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pubmed:author | |
pubmed:copyrightInfo |
© 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.
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pubmed:issnType |
Electronic
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pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
759-64
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pubmed:dateRevised |
2011-10-3
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pubmed:meshHeading |
pubmed-meshheading:19874353-Amino Acid Sequence,
pubmed-meshheading:19874353-Female,
pubmed-meshheading:19874353-Genetic Linkage,
pubmed-meshheading:19874353-Genotype,
pubmed-meshheading:19874353-Humans,
pubmed-meshheading:19874353-Keratin-9,
pubmed-meshheading:19874353-Keratoderma, Palmoplantar, Epidermolytic,
pubmed-meshheading:19874353-Male,
pubmed-meshheading:19874353-Microsatellite Repeats,
pubmed-meshheading:19874353-Molecular Sequence Data,
pubmed-meshheading:19874353-Multigene Family,
pubmed-meshheading:19874353-Mutation,
pubmed-meshheading:19874353-Pakistan,
pubmed-meshheading:19874353-Pedigree,
pubmed-meshheading:19874353-Sequence Alignment
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pubmed:year |
2010
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pubmed:articleTitle |
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
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pubmed:affiliation |
Department of Dermatology, Columbia University, New York, NY 10032, USA.
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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