|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
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-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality.
|
30287322 |
2019 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
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-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we revealed that the expressions of IL15, CCL5, IL1A, IL23R and TLR5 are down-regulated in keratinocytes expressing Cx26-D50N, suggesting that immune deficiency in KID syndrome expressing Cx26-D50N might be associated not only with skin barrier defects, but also with the down-regulated expression of immune response-related genes.
|
30150638 |
2018 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results indicated that GJB2 mutation (p.G12R) in this case of KID syndrome, which was susceptible to T. rubrum infection, might be attributed to a limited native immune response.
|
28635012 |
2017 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome.
|
29267468 |
2017 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we assessed the effect of two Cx26 mutations associated with KID syndrome, Cx26I30N and D50Y, on protein biosynthesis and channel function in N2A and HeLa cells.
|
26831144 |
2016 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
|
27141831 |
2016 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
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-Ichthyosis-Deafness Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Pharmacological modulators of Cx26 are needed to assess the pathomechanistic involvement of hemichannels in the development of hyperkeratosis in KID syndrome.
|
25229253 |
2015 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The functional paradox produced by oligomerization of Cx43 and Cx26 KID mutants could underlie the severe syndromic phenotype in human skin.
|
25625422 |
2015 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the first connection between the CO2 sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO2 insensitive and associated with disordered breathing in humans.
|
25422938 |
2014 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Altered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndrome.
|
24939841 |
2014 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
|
23924173 |
2013 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
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-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results show that these two mutations exhibit a shared gain of functional activity and support the hypothesis that increased hemichannel activity is a common feature of human Cx26 mutations responsible for KID syndrome.
|
23447037 |
2013 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these data provide insight into Cx26 structure-function and the underlying bases for the phenotypes associated with KID syndrome patients carrying the D50N mutation.
|
23797419 |
2013 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
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-Ichthyosis-Deafness Syndrome
|
0.600 |
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-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date.
|
22011219 |
2012 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
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-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cx26-G45E is a lethal mutation linked to KIDS that forms constitutively active connexin hemichannels.
|
22031297 |
2011 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C>T; p.Ala88Val) leading to KID syndrome.
|
20846357 |
2011 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26.
|
20412116 |
2010 |
|
Keratitis-Ichthyosis-Deafness Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.
|
20230788 |
2010 |