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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Poikiloderma of Kindler
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
FERMT1 promoter mutations in patients with Kindler syndrome.
|
25156791 |
2015 |
Poikiloderma of Kindler
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We now report three KS families with mutations affecting the promoter region of FERMT1.
|
25156791 |
2015 |
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 |
Poikiloderma of Kindler
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
|
25599393 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Poikiloderma of Kindler
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
|
21936020 |
2011 |
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 |
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 |
Poikiloderma of Kindler
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
|
21336475 |
2011 |
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 |