|
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 |
GeneticVariation
|
disease |
BEFREE |
Kindler syndrome (KS) is a progressive skin disorder caused by FERMT1 mutations.
|
21309038 |
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 |
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.
|
19945623 |
2010 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.
|
19762715 |
2009 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Kindler syndrome in native Americans from Panama: report of 26 cases.
|
15313809 |
2004 |
|
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 |
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 |
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 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 |
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 |