Poikiloderma of Kindler
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Of note, active beta1 integrin was reduced but overexpression of fermitin family homolog-1 restored integrin activation and partially rescued the Kindler syndrome cellular phenotype.
|
19762710 |
2009 |
Poikiloderma of Kindler
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.
|
19762715 |
2009 |
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 |
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.
|
19945623 |
2010 |
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 |
Kindler syndrome (KS) is a progressive skin disorder caused by FERMT1 mutations.
|
21309038 |
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 |
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 |
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 |
UNIPROT |
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
|
21936020 |
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 |
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
|
25599393 |
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 |
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 |
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 |