Associated Papers
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Kovalskaia VA et al.
Orphanet Journal of Rare Diseases, 2026
41645317 (PubMed )
Supplement: 13023_2026_4211_MOESM1_ESM.xlsx › ____1
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K et al.
Nature Communications, 2023
36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf
Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach.
Ranjan P et al.
Journal of Cellular Biochemistry, 2022
Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.
Fournier BP et al.
Journal of Dental Research, 2018
29879364 (PubMed )
Supplement: ds_10.1177_0022034518777460.pdf
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.
Shen W et al.
Plos One, 2016
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
Mues G et al.
European Journal of Human Genetics : Ejhg, 2010
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A).
Li S et al.
Plos One, 2008
The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity.
Hymowitz SG et al.
Structure (london, England : 1993), 2003
A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia.
Kobielak A et al.
Acta Biochimica Polonica, 2003
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P et al.
The Journal of Biological Chemistry, 2001
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.
Han D et al.
European Journal of Medical Genetics, 0
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