Associated Papers
Novel missense mutations in the tumor necrosis factor domain of Ectodysplasin-A cause non-syndromic tooth agenesis in two Chinese families.
Yang C et al.
Archives of Oral Biology, 2026
Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.
Zhou Y et al.
Oral Diseases, 2023
A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.
Liu X et al.
Molecular Genetics & Genomic Medicine, 2023
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
Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.
Han Y et al.
Frontiers in Genetics, 2020
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.
Shen W et al.
Plos One, 2016
Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.
Kowalczyk-Quintas C et al.
The Journal of Biological Chemistry, 2014
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
Mues G et al.
European Journal of Human Genetics : Ejhg, 2010
A common founder mutation in the EDA-A1 gene in X-linked hypodontia.
Kurban M et al.
Dermatology (basel, Switzerland), 2010
EDA gene mutations underlie non-syndromic oligodontia.
Song S et al.
Journal of Dental Research, 2009
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
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
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