Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.
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 mutat...
Main Authors: | Siegfried Ussar, Markus Moser, Moritz Widmaier, Emanuel Rognoni, Christian Harrer, Orsolya Genzel-Boroviczeny, Reinhard Fässler |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2008-12-01
|
Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC2585060?pdf=render |
Similar Items
-
Kindlin-2 cooperates with talin to activate integrins and induces cell spreading by directly binding paxillin
by: Marina Theodosiou, et al.
Published: (2016-01-01) -
Differential requirement of kindlin-3 for T cell progenitor homing to the non-vascularized and vascularized thymus
by: Federico Andrea Moretti, et al.
Published: (2018-09-01) -
The Endothelial Glycocalyx: Physiology and Pathology in Neonates, Infants and Children
by: Alexandra Puchwein-Schwepcke, et al.
Published: (2021-09-01) -
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.
by: Svensson, L, et al.
Published: (2009) -
Effect of gestational age and postnatal age on the endothelial glycocalyx in neonates
by: Alexandra Puchwein-Schwepcke, et al.
Published: (2021-02-01)