Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.
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ABSTRACT:
SUBMITTER: Ussar S
PROVIDER: S-EPMC2585060 | biostudies-literature | 2008 Dec
REPOSITORIES: biostudies-literature
Publications
Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.
Ussar Siegfried S Moser Markus M Widmaier Moritz M Rognoni Emanuel E Harrer Christian C Genzel-Boroviczeny Orsolya O Fässler Reinhard R
PLoS genetics 20081205 12
Kindler Syndrome (KS), characterized by transient skin blistering followed by abnormal pigmentation, skin atrophy, and skin cancer, is caused by mutations in the FERMT1 gene. Although a few KS patients have been reported to also develop ulcerative colitis (UC), a causal link to the FERMT1 gene mutation is unknown. The FERMT1 gene product belongs to a family of focal adhesion proteins (Kindlin-1, -2, -3) that bind several beta integrin cytoplasmic domains. Here, we show that deleting Kindlin-1 in ...[more]
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