Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2010-9-13
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.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1365-2230
pubmed:author
pubmed:copyrightInfo
© 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.
pubmed:issnType
Electronic
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
759-64
pubmed:dateRevised
2011-10-3
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
pubmed:affiliation
Department of Dermatology, Columbia University, New York, NY 10032, USA.
pubmed:publicationType
Journal Article, Research Support, N.I.H., Extramural