|
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 |
Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.
|
31241787 |
2019 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.
|
31129666 |
2019 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Patients with mutations in the ectodysplasin receptor signalling pathway genes - the X-linked ligand ectodysplasin-A (<i>EDA</i>), the receptor <i>EDAR</i> or the receptor adapter <i>EDARADD</i> - have hypohidrotic ectodermal dysplasia (HED).
|
31028034 |
2019 |
|
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 |
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 |
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.
|
30117778 |
2018 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.
|
29676859 |
2018 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Ectodysplasin A (Eda) signaling activates NF-κB during skin appendage formation, but how Eda controls specific gene transcription remains unclear.
|
30037996 |
2018 |
|
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 |
Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced.
|
28877528 |
2017 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The <i>EDA</i> gene encodes ectodysplasin A (Eda), which if mutated causes X-linked hypohidrotic ectodermal dysplasia (XLHED) disease in humans.
|
28655773 |
2017 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.
|
28981473 |
2017 |
|
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 |
CLINVAR |
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
|
27305980 |
2016 |
|
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 |
UNIPROT |
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
|
27657131 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms.
|
27411570 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypohidrotic ectodermal dysplasia (HED) results from mutation of the EDA, EDAR or EDARADD genes and is characterized by reduced or absent eccrine sweat glands, hair follicles and teeth, and defective formation of salivary, mammary and craniofacial glands.
|
27378689 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel missense mutation in the EDA gene in a family affected by oligodontia.
|
26753551 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.
|
27144394 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
|
27657131 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
De novo EDA mutations: Variable expression in two Egyptian families.
|
27054699 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.
|
27144394 |
2016 |
|
Christ-Siemens-Touraine syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
|
27305980 |
2016 |