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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some but not all families.
|
11017804 |
2000 |
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 |
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 |
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 |
Peripheral Nervous System Diseases
|
0.540 |
GeneticVariation
|
group |
BEFREE |
Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders.
|
11309368 |
2001 |
Peripheral Nervous System Diseases
|
0.540 |
GeneticVariation
|
group |
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 |
Peripheral Nervous System Diseases
|
0.540 |
GeneticVariation
|
group |
BEFREE |
The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated.
|
19755382 |
2009 |
Peripheral Nervous System Diseases
|
0.540 |
GeneticVariation
|
group |
BEFREE |
Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy.
|
12165562 |
2002 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR.
|
9843210 |
1998 |
hearing impairment
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
|
11309368 |
2001 |
hearing impairment
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Thus, haplotype comparison excluded a contribution of the region concerned to the expression of hearing impairment in this family, nor could the susceptibility be assigned to the GJB2, GJB3, MTO1 or TIMM8A genes.
|
12939650 |
2003 |