|
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 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical features of an 11-year-old boy with Kindler syndrome from a consanguineous Indian family and the identification of a homozygous nonsense mutation (C468X) in exon 12 of the KIND1 gene in his genomic DNA.
|
15807691 |
2005 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
|
12789646 |
2003 |
|
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 |
In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins.
|
14962093 |
2004 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS.
|
16702500 |
2006 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin-1, in cell-matrix adhesion and its intriguing link to photosensitivity.
|
14987263 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in KIND1 and KIND3 cause Kindler syndrome and leukocyte adhesion deficiency-III syndrome, respectively, although no human disease has yet been associated with KIND2 gene pathology.
|
19854292 |
2010 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Kindler syndrome (KS) protein kindlin-1 is a member of a protein complex that links cortical actin to integrins on the surface of basal keratinocytes.
|
18652585 |
2008 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
The kindlin-1-deficient oral mucosal tissue from a patient with Kindler syndrome showed a complete lack of paxillin and reduced migfilin immunostaining in the basal keratinocytes.
|
19758247 |
2009 |
|
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 |
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
RT-PCR showed the total loss of kindlin-1 mRNA in cultured gingival fibroblasts, supporting the clinical diagnosis of Kindler syndrome.
|
18454678 |
2008 |
|
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 |
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 |
A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.
|
26537214 |
2015 |
|
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 |
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 |
BEFREE |
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.
|
19945623 |
2010 |