FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE CDK1 and CDK2 are key regulators of cell cycle progression, however, cell cycle analysis showed only small differences between the KS and KS-Kin1WT keratinocytes. 31260568 2019
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE This shows a new role for kindlin-1 that has implications for understanding Kindler syndrome disease pathology. 30248333 2019
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 AlteredExpression disease BEFREE We propose that Kindlin-1 dependent activation of ERK signalling is a key molecular mechanism that renders KS keratinocytes more sensitive to oxidative damage and contributes to the increased photosensitivity in KS patients. 28501563 2017
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE Loss of function of KIND1, a cytoskeletal protein involved in β1-integrin function, causes Kindler syndrome, a genetic disease characterized by skin fragility, photosensitivity, and increased risk of squamous cell carcinoma. 27725201 2017
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE The study of this hypomorphic mutation provides evidence that low amounts of kindlin-1 are sufficient to improve the epidermal architecture and Kindler syndrome cellular phenotype and proposes a personalized chaperone therapy for the patient. 26827766 2016
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE The mutations analysis of 15 coding exons of KIND1 gene was performed with PCR-SSCP and direct sequencing in 14 subjects from one Iranian family clinically affected with Kindler syndrome. 27293055 2016
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease GENOMICS_ENGLAND Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing. 27537055 2016
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE Most cases of KS show a marked reduction or complete absence of the kindlin-1 protein in keratinocytes, resulting in defective cell adhesion and migration. 27427485 2016
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease GENOMICS_ENGLAND Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome. 27489438 2016
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 CausalMutation disease CLINVAR FERMT1 promoter mutations in patients with Kindler syndrome. 25156791 2015
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE We now report three KS families with mutations affecting the promoter region of FERMT1. 25156791 2015
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. 26537214 2015
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 CausalMutation disease CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm. 25591451 2015
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene. 24346923 2014
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE Despite the fact that loss-of-function mutations in the FERMT1 gene, encoding kindlin-1, have been shown to cause the syndrome in numerous patients, a small number of typical cases of KS in which FERMT1 mutations could not be identified has raised the possibility that the disorder may be genetically heterogeneous. 24635080 2014
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE Individuals with Kindler syndrome (KS) have loss-of-function mutations in the FERMT1 gene that encodes the focal adhesion component kindlin-1. 23278235 2013
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE We report a novel kindlin-1-deficient keratinocyte cell line derived from a Kindler syndrome patient. 23776470 2013
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE Mutations in the gene encoding kindlin-1 are associated with Kindler syndrome, a recessively inherited disorder that is characterized by fragile skin. 22326752 2012
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GermlineCausalMutation disease ORPHANET Here we describe a disseminated pattern of revertant mosaicism observed in 6 patients with Kindler syndrome (KS), a genodermatosis caused by loss of kindlin-1 (encoded by FERMT1) and clinically characterized by patchy skin pigmentation and atrophy. 22466645 2012
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease UNIPROT Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. 21936020 2011
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 GeneticVariation disease BEFREE Immunofluorescence study showed positive expression of kindlin-1 in KS skin with c.1089del/1089+1del mutation. 21146372 2011
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE Fermitin family member 1 (FERMT1, Kindlin-1) is an epithelial-specific regulator of integrin functions and is associated with Kindler syndrome, a genetic disorder characterized by skin blistering, atrophy, and photosensitivity. 21832234 2011
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 CausalMutation disease CLINVAR Novel and recurrent FERMT1 gene mutations in Kindler syndrome. 21336475 2011
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
1.000 Biomarker disease BEFREE Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. 21936020 2011