Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3).
|
29570224 |
2019 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Only the proband and her unaffected mother exhibited the GJB3 mutation, which is in the same amino acid of a known Erythrokeratodermia variabilis mutation.
|
29044474 |
2018 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.
|
26632638 |
2016 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The study suggests that Cx31 mutant proteins are un/misfolded to cause EKV likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease.
|
26251042 |
2015 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
The study suggests that Cx31 mutant proteins are un/misfolded to cause EKV likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease.
|
26251042 |
2015 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively.In this issue, Boyden et al.
|
25964267 |
2015 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative.
|
25297803 |
2014 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation.
|
23442023 |
2013 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.
|
22681493 |
2012 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
The study identifies a mechanism of EKV pathogenesis induced by a Cx31 mutant and provides a new avenue for potential treatment strategy of the disease.
|
22393412 |
2012 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
BEFREE |
The study identifies a mechanism of EKV pathogenesis induced by a Cx31 mutant and provides a new avenue for potential treatment strategy of the disease.
|
22393412 |
2012 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations associated with EKV have been identified in the connexin (Cx) genes GJB3 (Cx31) and GJB4 (Cx30.3), however, several cases of EKV have been tested negative for mutations in these two Cx genes.
|
22266302 |
2012 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
|
21950330 |
2012 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
We also show that a mutation of human Connexin 31, which causes erythrokeratoderma variabilis, induces ER stress and p63-dependent epidermal apoptosis in the zebrafish embryo, thus implicating this pathway in the pathogenesis of inherited disease.
|
21920315 |
2011 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
|
21879244 |
2011 |
Erythrokeratodermia variabilis
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
|
21564177 |
2011 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV.
|
21188847 |
2011 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis.
|
18482034 |
2008 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
So far, several mutations in the Cx31 or Cx30.3 gene have been reported to cause EKV in humans.
|
17446259 |
2007 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown.
|
16077902 |
2005 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A novel, recurrent GJB3 mutation (625C-->T; L209F) was identified in the family with EKV and in the unrelated sporadic case.
|
15948974 |
2005 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel, recurrent GJB3 mutation (625C-->T; L209F) was identified in the family with EKV and in the unrelated sporadic case.
|
15948974 |
2005 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment.
|
15131355 |
2004 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Despite slight differences, phenotypes of EKV Mendes Da Costa (Cx31) and EKV Cram-Mevorah (Cx30.3) show major clinical overlap and both Cx30.3 and Cx31 are expressed in the upper epidermal layers.
|
14583444 |
2003 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These mutations include G12D, which replaces a conserved glycine residue in the amino-terminus of Cx31 and is associated with a severe EKV phenotype.
|
12702148 |
2003 |