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
A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
Yao L et al.
Bmc Pregnancy and Childbirth, 2025
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Xing Q et al.
Oral Diseases, 2024
Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.
Yu K et al.
Oral Diseases, 2024
EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.
Su L et al.
International Journal of Molecular Sciences, 2024
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K et al.
Nature Communications, 2023
Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.
Yu K et al.
Clinical Genetics, 2022
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK et al.
American Journal of Medical Genetics. Part A, 2022
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Ahmed HA et al.
Genes, 2021
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.
Hammersen J et al.
Prenatal Diagnosis, 2019
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
Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia.
Podzus J et al.
Journal of Dental Research, 2017
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
Zeng B et al.
Genes, 2016
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.
Zeng B et al.
Oral Diseases, 2015
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.
Guazzarotti L et al.
Clinical Genetics, 2015
[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].
Zou C et al.
Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.
Dietz J et al.
European Journal of Pediatrics, 2013
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
A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.
Huang C et al.
Journal of Human Genetics, 2006
A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia.
Sekiguchi H et al.
International Journal of Paediatric Dentistry, 2005
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
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
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
Bayés M et al.
Human Molecular Genetics, 1998