Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Erythrokeratodermia variabilis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CTD_human |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
Erythrokeratodermia variabilis
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells.
|
12176042 |
2002 |
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 |
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 |
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 |
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 |
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 |
CLINGEN |
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis.
|
18482034 |
2008 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
|
21564177 |
2011 |