The kindlin family: functions, signaling properties and implications for human disease.
Martinsried, Germany. In J Cell Sci, Feb 2016
Mutations in the KINDLIN-1 (also known as FERMT1) gene cause Kindler syndrome (KS) - in which mainly skin and intestine are affected, whereas mutations in the KINDLIN-3 (also known as FERMT3) gene cause leukocyte adhesion deficiency type III (LAD III), which is characterized by impaired extravasation of blood effector cells and severe, spontaneous bleedings.
FERMT1 promoter mutations in patients with Kindler syndrome.
Freiburg, Germany. In Clin Genet, Sep 2015
Mutations in the FERMT1 gene, encoding the focal adhesion protein kindlin-1 underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with a phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer.
Genome Wide Methylome Alterations in Lung Cancer.
New York City, United States. In Plos One, 2014
Of the canonical changes noted, promoter (PR) DM loci with reciprocal changes in expression in adenocarcinomas included HBEGF, AGER, PTPRM, DPT, CST1, MELK; DM GB loci with concordant changes in expression included FOXM1, FERMT1, SLC7A5, and FAP genes.
Kindlin-3 in the immune system.
Helsinki, Finland. In Am J Clin Exp Immunol, 2013
In contrast to kindlin-1 and kindlin-2 proteins, kindlin-3 is expressed mainly in the hematopoietic system.
Oxidative stress and mitochondrial dysfunction in Kindler syndrome.
Valencia, Spain. In Orphanet J Rare Dis, 2013
In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosis is still poorly understood.
London, United Kingdom. In Dermatol Clin, 2010
Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome.