|
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 |
CausalMutation
|
disease |
CLINVAR |
Kindler syndrome in native Americans from Panama: report of 26 cases.
|
15313809 |
2004 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
FERMT1 promoter mutations in patients with Kindler syndrome.
|
25156791 |
2015 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
|
21336475 |
2011 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |