|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.
|
30276836 |
2018 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore the aim of the study was to search for etiological variations of EDA and other candidate genes in two unrelated Egyptian male children with sporadic non-syndromic tooth agenesis (NTA) and hypohidrotic ectodermal dysplasia (HED).
|
27054699 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, the authors investigated the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia.
|
15663448 |
2005 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of NEMO which do not abolish NF-kappaB activity totally permit male survival, causing an allelic variant of IP called hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
|
16228229 |
2005 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Localization of the mutations in the extracellular domain of ectodysplasin A suggested that the primary cause of EDA is a defect in communication between the cells responsible for the development of skin appendages.
|
11343303 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some mutations cause immunodeficiency without EDA (NEMO-ID).
|
28993958 |
2017 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
|
11378824 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands, is usually inherited as an X-linked recessive trait mapped to the X-linked ectodermal dysplasia locus, EDA, at Xq12-q13.1.
|
9245989 |
1997 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.
|
17066260 |
2006 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
|
9683615 |
1998 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.
|
9630076 |
1998 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
|
11279189 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
|
11416205 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.
|
26411740 |
2015 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This mutation might affect the tertiary structure of the receptor-binding domain of ectodysplasin-A and precipitate the clinical symptoms of anhidrotic ectodermal dysplasia.
|
12673367 |
2003 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data confirm and extend the large spectrum of EDA1 mutations and provide a rapid and efficient molecular protocol for testing EDA1 mutations in EDA patients.
|
18666859 |
2008 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Physical mapping and sequence analysis of the coding parts of the ED1 gene revealed that a large genomic region including exon 3 of the ED1 gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.
|
11591646 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia.
|
31533624 |
2019 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds.
|
18821982 |
2008 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a pathogenetic mutation in EDA gene for the X-linked hypohidrotic ectodermal dysplasia family, made a prenatal diagnosis for the female carrier, and reported a novel EDA gene mutation.
|
30006944 |
2018 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
|
11295832 |
2001 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The genetic analysis revealed a mutation of the EDA gene for hemizygosity previously associated with AED and the mother was revealed as the conductor of the genetic alteration.
|
25758344 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.
|
18702659 |
2009 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations).
|
21724465 |
2011 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ectodysplasin-A (EDA) gene have been associated with X-linked hypohidrotic ectodermal dysplasia, and partial disruption of the EDA signaling pathway has been shown to cause an isolated form of oligodontia.
|
24487376 |
2014 |