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 |
Biomarker
|
disease |
CLINGEN |
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
|
21879244 |
2011 |
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 |
GeneticVariation
|
disease |
BEFREE |
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
|
12019212 |
2002 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
We have now investigated GJB3 in two families and three sporadic cases with EKV, and report three new heterozygous mutations.
|
10798362 |
2000 |
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 |
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 |
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 |
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 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 |
GENOMICS_ENGLAND |
We have now investigated GJB3 in two families and three sporadic cases with EKV, and report three new heterozygous mutations.
|
10798362 |
2000 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Immunostaining of a biopsy taken from an EKV patient harbouring the R42P mutation revealed sparse epidermal staining of Cx31, and, when present, it had a perinuclear localization.
|
12165562 |
2002 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis.
|
11309368 |
2001 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have now investigated GJB3 in two families and three sporadic cases with EKV, and report three new heterozygous mutations.
|
10798362 |
2000 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Erythrokeratodermia variabilis
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
|
21564177 |
2011 |
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
|
21950330 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |