|
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 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of function of KIND1, a cytoskeletal protein involved in β1-integrin function, causes Kindler syndrome, a genetic disease characterized by skin fragility, photosensitivity, and increased risk of squamous cell carcinoma.
|
27725201 |
2017 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
BEFREE |
This shows a new role for kindlin-1 that has implications for understanding Kindler syndrome disease pathology.
|
30248333 |
2019 |
|
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 |
|
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 |
GENOMICS_ENGLAND |
Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome.
|
27489438 |
2016 |
|
Poikiloderma of Kindler
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm.
|
25591451 |
2015 |
|
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 |
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 |