Associated Papers
Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
Zhang J et al.
Frontiers in Cell and Developmental Biology, 2025
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
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
Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.
Park JS et al.
Cytogenetic and Genome Research, 2019
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
23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf
Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.
Liu Y et al.
Gene, 2012
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
Mues G et al.
European Journal of Human Genetics : Ejhg, 2010
[Mutation analysis of the eda-A1 gene for hypohidrotic ectodermal dysplasia and construction of recombined eukaryotic expression vector].
Lei K et al.
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 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
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2001
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.
Ezer S et al.
Human Molecular Genetics, 1999
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
Monreal AW et al.
American Journal of Human Genetics, 1998
Select a paper to view details