|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
MGD |
Kindler Syndrome (KS), characterized by transient skin blistering followed by abnormal pigmentation, skin atrophy, and skin cancer, is caused by mutations in the FERMT1 gene.
|
19057668 |
2008 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.
|
19945623 |
2010 |
|
Poikiloderma of Kindler
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kindler syndrome (KS) is a progressive skin disorder caused by FERMT1 mutations.
|
21309038 |
2011 |
|
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 |
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
|
18528435 |
2008 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
FERMT1 promoter mutations in patients with Kindler syndrome.
|
25156791 |
2015 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals.
|
21336475 |
2011 |
|
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 |
BEFREE |
Here, we report novel and recurrent KIND1 gene mutations in nine unrelated Italian KS individuals.
|
16675959 |
2006 |
|
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 |
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 |
|
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
In addition to identifying protein-binding partners for kindlin-1, this study also highlights that KIND1 gene expression and kindlin-1 protein labeling are not always reduced in KS, findings that are relevant to the accurate laboratory diagnosis of this genodermatosis by skin immunohistochemistry.
|
18528435 |
2008 |
|
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 |
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 |