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Publication : Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.

First Author  Ussar S Year  2008
Journal  PLoS Genet Volume  4
Issue  12 Pages  e1000289
PubMed ID  19057668 Mgi Jnum  J:142913
Mgi Id  MGI:3822410 Doi  10.1371/journal.pgen.1000289
Citation  Ussar S, et al. (2008) Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction. PLoS Genet 4(12):e1000289
abstractText  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 mice gives rise to skin atrophy and an intestinal epithelial dysfunction with similarities to human UC. This intestinal dysfunction results in perinatal lethality and is triggered by defective intestinal epithelial cell integrin activation, leading to detachment of this barrier followed by a destructive inflammatory response.
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