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Christ-Siemens-Touraine syndrome
Known as:
anhidrotic dysplasia ectodermal
, X Linked Hypohydridic Ectodermal Dysplasia
, EDA
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A rare genetic disorder characterized by mutations in the gene encoding ectodysplasin A. It results in abnormalities in the morphogenesis of the…
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National Institutes of Health
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Related topics
Related topics
32 relations
Anhidrosis
Anhydrotic Ectodermal Dysplasias
Aplasia/Hypoplastia of the eccrine sweat glands
Dry skin
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Broader (1)
Skin Abnormalities
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Unwinding and Rewinding: Double Faces of Helicase?
Yuliang Wu
Journal of Nucleic Acids
2012
Corpus ID: 983529
Helicases are enzymes that use ATP-driven motor force to unwind double-stranded DNA or RNA. Recently, increasing evidence…
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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.
Eric D. Tang
,
Cun-Yu Wang
,
Y. Xiong
,
K. Guan
Journal of Biological Chemistry
2003
Corpus ID: 2401694
NEMO (NF-kappaB essential modifier)/IKKgamma (IkappaB kinase-gamma) is required for the activation of the IkappaB kinase complex…
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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.
H. Waterham
,
J. Koster
,
+6 authors
J. Oosterwijk
American Journal of Human Genetics
2003
Corpus ID: 5680802
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with…
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Highly Cited
2003
Highly Cited
2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Neil V. Morgan
,
C. Bacchelli
,
+13 authors
Colin A. Johnson
Journal of Medical Genetics
2003
Corpus ID: 11232470
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a…
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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).
R. Perniola
,
A. Falorni
,
M. Clemente
,
F. Forini
,
E. Accogli
,
G. Lobreglio
European Journal of Endocrinology
2000
Corpus ID: 32025802
OBJECTIVE The aim of the study was to assess the complex of autoantibodies which can be detected in patients with autoimmune…
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Highly Cited
1999
Highly Cited
1999
Differential response of macrophage subpopulations to myelin degradation in the injured rat sciatic nerve
K. Hirata
,
H. Mitoma
,
N. Ueno
,
Jian‐wen He
,
M. Kawabuchi
Journal of Neurocytology
1999
Corpus ID: 19369092
Molecular mechanisms of myelin removal by macrophages were explored by examining the immunophenotypes of macrophages following…
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Highly Cited
1983
Highly Cited
1983
Gastroscopic screening in 80 patients with pernicious anaemia.
R. W. Stockbrugger
,
G G Menon
,
J O Beilby
,
R. R. Mason
,
P. Cotton
Gut
1983
Corpus ID: 12179040
We have studied 80 patients with pernicious anaemia. Upper gastrointestinal endoscopy (with biopsy and cytology) showed no lesion…
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Review
1979
Review
1979
Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: I. Affected females.
M. Pinheiro
,
N. Freire‐Maia
American journal of medical genetics
1979
Corpus ID: 24290303
A total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ-Siemens-Touraine syndrome. The…
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Highly Cited
1967
Highly Cited
1967
Limb development in the polydactylous talpid3 mutant of the fowl
J. Hinchliffe
,
D. A. Ede
1967
Corpus ID: 38906966
The three groups of abnormal chick embryos known as talpids show a common pattern of remarkably widespread pleiotropic…
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Highly Cited
1962
Highly Cited
1962
FAMILIAL ECTODERMAL DYSPLASIA WITH SENSORI-NEURAL DEAFNESS AND OTHER ANOMALIES
G. Robinson
,
James R. Miller
,
Joseph R. Bensimon
Pediatrics
1962
Corpus ID: 59227706
This case report presents the pedigree of a family with hereditary ectodermal dysplasia of the hidrotic type in which various…
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