|
Keratoderma, Palmoplantar
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Poikiloderma of Kindler
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
|
12668616 |
2003 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
|
12668616 |
2003 |
|
Carcinogenesis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
The presence of multiple FERM domains characteristic of cytoplasmic plasma membrane to cytoskeleton linkers and a PH domain typical of membrane-anchored proteins involved in signal transduction suggest an important role for URP1 in tumorigenesis.
|
12697302 |
2003 |
|
Carcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Transcriptional analysis shows that only URP1 is significantly differentially regulated, being over-expressed in 70% of the colon carcinomas and 60% of the lung carcinomas tested.
|
12697302 |
2003 |
|
Colonic Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Quantification of URP1 expression by qRT-PCR showed up-regulation of the gene by 60-fold in lung tumors and up to nearly 6-fold in colon tumors.
|
12697302 |
2003 |
|
Lung Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Quantification of URP1 expression by qRT-PCR showed up-regulation of the gene by 60-fold in lung tumors and up to nearly 6-fold in colon tumors.
|
12697302 |
2003 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
GeneticVariation
|
disease |
UNIPROT |
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 |
CausalMutation
|
disease |
CLINVAR |
Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder.
|
14507403 |
2003 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
|
14962093 |
2004 |
|
Poikiloderma
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
These loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity, although the mechanism linking this mutant protein to photosensitivity and poikiloderma remains to be determined.
|
14962093 |
2004 |
|
Photosensitivity Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
|
14962093 |
2004 |
|
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
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
For example, new ideas about photosensitivity are emerging from discoveries of mutations in a novel component of the actin cytoskeleton (kindlin-1) in the rare inherited poikiloderma disorder, Kindler syndrome.
|
15068453 |
2004 |
|
Poikiloderma of Kindler
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Kindler syndrome in native Americans from Panama: report of 26 cases.
|
15313809 |
2004 |
|
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 |
Two groups have recently shown that the molecular basis of Kindler syndrome is loss of a novel epidermal protein, kindlin-1, encoded by the gene KIND1.
|
15927810 |
2005 |
|
Poikiloderma of Kindler
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype.
|
16309479 |
2006 |
|
Poikiloderma of Kindler
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report novel and recurrent KIND1 gene mutations in nine unrelated Italian KS individuals.
|
16675959 |
2006 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
|
17178989 |
2006 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
We examined kindlin-1 in human gastrointestinal epithelia and showed that it is involved in the aetiopathology of Kindler syndrome-associated colitis.
|
17955455 |
2007 |