نتایج جستجو برای: kindler syndrome

تعداد نتایج: 622010  

2013
Renee W. Y. Chan Leo L. M. Poon

A novel betacoronavirus, human coronavirus (HCoV-EMC), has recently been detected in humans with severe respiratory disease. Further characterization of HCoV-EMC suggests that this virus is different from severe acute respiratory syndrome coronavirus (SARS-CoV) because it is able to replicate in multiple mammalian cell lines and it does not use angiotensin-converting enzyme 2 as a receptor to a...

Journal: :Actas Dermo-Sifiliográficas 2020

Journal: :PLoS Genetics 2008
Siegfried Ussar Markus Moser Moritz Widmaier Emanuel Rognoni Christian Harrer Orsolya Genzel-Boroviczeny Reinhard Fässler

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...

2016
Hitesh Patel Ifigeneia Stavrou Roshan L. Shrestha Viji Draviam Margaret C. Frame Valerie G. Brunton

Loss of Kindlin 1 (Kin1) results in the skin blistering disorder Kindler Syndrome (KS), whose symptoms also include skin atrophy and reduced keratinocyte proliferation. Kin1 binds to integrins to modulate their activation and more recently it has been shown to regulate mitotic spindles and cell survival in a Plk1-dependent manner. Here we report that short-term Kin1 deletion in mouse skin resul...

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