|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
BEFREE |
A KID syndrome cell line (KID-KC) was established from primary patient keratinocytes with a heterozygous p.D50N mutation.
|
31705875 |
2019 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
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 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
BEFREE |
Here, we demonstrated that Cx26I30N and D50Y mutations resulted in the formation of aberrant hemichannels that might result in elevated intracellular calcium levels, a process which may contribute to the hyperproliferative epidermal phenotypes of KID syndrome.
|
26831144 |
2016 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
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 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
BEFREE |
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
|
23924173 |
2013 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
BEFREE |
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.
|
19793313 |
2009 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
BEFREE |
Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation p.Asp50Asn was found in the patient with KID syndrome.
|
17106596 |
2006 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
UNIPROT |
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
|
12548749 |
2003 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
UNIPROT |
We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome.
|
12752120 |
2003 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
BEFREE |
We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome.
|
12752120 |
2003 |
|
rs28931594
|
|
Senter syndrome
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
|
11912510 |
2002 |
|
rs28931594
|
|
Senter syndrome
|
A |
0.880 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28931594
|
|
Senter syndrome
|
T |
0.880 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
We explored the effects of three mouse Cx26 mutants (Cx26-G12R, -G45E and -D50N) corresponding to KID syndrome-causative human mutants on hemichannel activities leading to cell death and the expression of immune response-associated genes.
|
30150638 |
2018 |
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
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 |
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules.
|
22011219 |
2012 |
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
The p.G12R mutation has only been described in one other patient with KID syndrome, whose clinical presentation was not characterized.
|
19785089 |
2009 |
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Interestingly, this asparagine is near two of the residues mutated in Keratitis-like ichthyosis deafness (KID) syndrome (G12R and S17F), yet the phenotype associated with N14K strongly differs from the KID phenotype.
|
15245427 |
2004 |
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
|
12548749 |
2003 |
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
|
12752120 |
2003 |
|
rs104894408
|
|
Senter syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
|
11912510 |
2002 |
|
rs104894408
|
|
Senter syndrome
|
A |
0.850 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs104894408
|
|
Senter syndrome
|
G |
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894403
|
|
Mutilating keratoderma
|
|
0.830 |
GeneticVariation
|
BEFREE |
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations.
|
20031451 |
2010 |
|
rs104894403
|
|
Mutilating keratoderma
|
|
0.830 |
GeneticVariation
|
UNIPROT |
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
|
18688874 |
2009 |