|
Keratitis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
A group of human mutations within the N-terminal (NT) domain of connexin 26 (Cx26) hemichannels produce aberrant channel activity, which gives rise to deafness and skin disorders, including keratitis-ichthyosis-deafness (KID) syndrome.
|
30530766 |
2019 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis that typically results from mutations of the GJB2 gene or, less commonly, the GJB6 gene.
|
29742560 |
2018 |
|
Keratitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Importantly, we also demonstrate that the antibody efficiently inhibits hyperative mutant Cx26 hemichannels implicated in autosomal dominant non-syndromic hearing impairment accompanied by keratitis and hystrix-like ichthyosis-deafness (KID/HID) syndrome.
|
29018324 |
2017 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
For example, mutations in connexin26 (Cx26) cause both non-syndromic deafness and syndromic deafness associated with skin abnormalities such as keratitis-ichthyosis-deafness (KID) syndrome.
|
26831144 |
2016 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
|
27141831 |
2016 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Keratitis-ichthyosis-deafness (KID) syndrome is an ectodermal dysplasia caused by dominant mutations of connexin26 (Cx26).
|
25229253 |
2015 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively.
|
25575739 |
2015 |
|
Keratitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Excessive opening of undocked Cx26 hemichannels in the plasma membrane is associated with disease pathogenesis in keratitis-ichthyosis-deafness (KID) syndrome.
|
24939841 |
2014 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we use three different expression systems to examine the functional characteristics of two Cx26 mutations causing either mild (Cx26-D50A) or lethal (Cx26-A88V) keratitis-ichthyosis-deafness (KID) syndrome.
|
23447037 |
2013 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome.
|
23756814 |
2013 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
|
23924173 |
2013 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we review a proposed role for hemichannels in the pathogenesis of Keratitis-Ichthyosis-Deafness (KID) syndrome associated with connexin26 (Cx26) mutations.
|
21933663 |
2012 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Connexin26 (Cx26) give rise to a spectrum of dominantly inherited hyperproliferating skin disorders, the severest being keratitis-ichthyosis-deafness (KID) syndrome, an inflammatory skin disorder, with patients prone to opportunistic infections.
|
22643125 |
2012 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several cases of widespread involvement have been reported, including one in association with the keratitis-ichthyosis-deafness (KID) syndrome (OMIM #148210), a rare disorder caused by mutations in the GJB2 gene coding for the gap junction protein connexin26 (Cx26).
|
22592158 |
2012 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
|
20846357 |
2011 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.
|
19785089 |
2009 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.
|
18412859 |
2008 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
|
18024254 |
2008 |
|
Keratitis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness.
|
16172043 |
2006 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness.
|
16172043 |
2006 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26.
|
17106596 |
2006 |
|
Keratitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome.
|
15140211 |
2004 |
|
Keratitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome.
|
12752120 |
2003 |
|
Keratitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.
|
3232512 |
1988 |
|
Keratitis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|