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Christ-Siemens-Touraine syndrome

Known as: anhidrotic dysplasia ectodermal, X Linked Hypohydridic Ectodermal Dysplasia, EDA 
A rare genetic disorder characterized by mutations in the gene encoding ectodysplasin A. It results in abnormalities in the morphogenesis of the… 
National Institutes of Health

Related topics

Related topics

32 relations
AnhidrosisAnhydrotic Ectodermal DysplasiasAplasia/Hypoplastia of the eccrine sweat glandsDry skin

Broader (1)

Skin Abnormalities

Papers overview

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Highly Cited
2012
Highly Cited
2012
Unwinding and Rewinding: Double Faces of Helicase?
Helicases are enzymes that use ATP-driven motor force to unwind double-stranded DNA or RNA. Recently, increasing evidence… 
Highly Cited
2003
Highly Cited
2003
A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha.
NEMO (NF-kappaB essential modifier)/IKKgamma (IkappaB kinase-gamma) is required for the activation of the IkappaB kinase complex… 
Highly Cited
2003
Highly Cited
2003
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with… 
Highly Cited
2003
Highly Cited
2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a… 
Highly Cited
2000
Highly Cited
2000
Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
OBJECTIVE The aim of the study was to assess the complex of autoantibodies which can be detected in patients with autoimmune… 
Highly Cited
1999
Highly Cited
1999
Differential response of macrophage subpopulations to myelin degradation in the injured rat sciatic nerve
Molecular mechanisms of myelin removal by macrophages were explored by examining the immunophenotypes of macrophages following… 
Highly Cited
1983
Highly Cited
1983
Gastroscopic screening in 80 patients with pernicious anaemia.
We have studied 80 patients with pernicious anaemia. Upper gastrointestinal endoscopy (with biopsy and cytology) showed no lesion… 
Review
1979
Review
1979
Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: I. Affected females.
A total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ-Siemens-Touraine syndrome. The… 
Highly Cited
1967
Highly Cited
1967
Limb development in the polydactylous talpid3 mutant of the fowl
The three groups of abnormal chick embryos known as talpids show a common pattern of remarkably widespread pleiotropic… 
Highly Cited
1962
Highly Cited
1962
FAMILIAL ECTODERMAL DYSPLASIA WITH SENSORI-NEURAL DEAFNESS AND OTHER ANOMALIES
This case report presents the pedigree of a family with hereditary ectodermal dysplasia of the hidrotic type in which various… 
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