Linked Life Data

15927810

Source:http://linkedlifedata.com/resource/pubmed/id/15927810

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2005-6-1
pubmed:abstractText
Kindler syndrome is an autosomal recessive genodermatosis characterized by acral blistering in neonates and diffuse, progressive poikiloderma in later life. Other clinical features include photosensitivity, premature skin ageing and severe periodontal disease. Two groups have recently shown that the molecular basis of Kindler syndrome is loss of a novel epidermal protein, kindlin-1, encoded by the gene KIND1. Two additional kindlin proteins, kindlin-2 and kindlin-3, have also been described. Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton to the extracellular matrix and as such is proposed to have both structural and cell-signalling functions. Kindler syndrome is therefore the first skin fragility syndrome due to disruption of the actin-extracellular matrix system.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0923-1811
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
169-75
pubmed:dateRevised
2008-9-11
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.
pubmed:affiliation
Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Medical School, UK. swhite@hgmp.mrc.ac.uk
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't