|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in genes that encode proteins involved in EDAR transduction cascade cause anhidrotic ectodermal dysplasia.
|
29855541 |
2019 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.
|
31245878 |
2019 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia with defects in ectodermal appendage development including teeth, skin, exocrine glands and hair.
|
26336973 |
2015 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
|
24884697 |
2014 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
|
22032522 |
2012 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia.
|
21332691 |
2011 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
MGD |
Defects and rescue of the minor salivary glands in Eda pathway mutants.
|
20969842 |
2011 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia.
|
21876339 |
2011 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes.
|
20236127 |
2010 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
Distinct impacts of Eda and Edar loss of function on the mouse dentition.
|
19340299 |
2009 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The history and the lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency).
|
19504606 |
2009 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia.
|
19551394 |
2009 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
|
18231121 |
2008 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
|
17125505 |
2006 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
|
16435307 |
2006 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
Involvement of the Edar signaling in the control of hair follicle involution (catagen).
|
17148670 |
2006 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We present evidence that EDAR also represses Lef-1/beta-catenin-dependent transcription and this ability is defective in EDAR mutants associated with anhidrotic ectodermal dysplasia.
|
15013427 |
2004 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
TRAF6 does not associate with the cytoplasmic tail of the dl protein (DL)/ectodysplasin receptor (EDAR) receptor, which, when mutated, results in hypohidrotic (anhidrotic) ectodermal dysplasia.
|
12060722 |
2002 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
YAC rescue of downless locus mutations in mice.
|
9799834 |
1998 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
Insertional inactivation of the downless gene in a family of transgenic mice.
|
2622338 |
1989 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
Evidence from chimaeras for the pattern of proliferation of epidermis in the mouse.
|
892445 |
1977 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
Aspects of the tabby-crinkled-downless syndrome. II. Observations on the reaction to changes of genetic background.
|
5361555 |
1969 |
|
Christ-Siemens-Touraine syndrome
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|