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
Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.
Guo X et al.
International Dental Journal, 2025
Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes.
Chen J et al.
Orphanet Journal of Rare Diseases, 2025
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.
Wu Y et al.
Human Genetics, 2024
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Xing Q 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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
Rietmann SJ et al.
Genes, 2024
A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.
Zhuang Y et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K et al.
Nature Communications, 2023
Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern.
Liu H et al.
Diagnostics (basel, Switzerland), 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
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 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
Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study.
Ngoc VTN et al.
Clinical Genetics, 2018
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.
Liu Y et al.
Genetic Testing and Molecular Biomarkers, 2018
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.
Savasta S et al.
Cytogenetic and Genome Research, 2017
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2015
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.
Yin W et al.
Plos One, 2013
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.
He H et al.
Plos One, 2013
[Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia].
Wu QH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.
Liu Y et al.
Gene, 2012
[Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia].
Salas-Alanis JC et al.
Revista Medica De Chile, 2011
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.
Keller MD et al.
Frontiers in Immunology, 2011
[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
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
Lexner MO et al.
Clinical Genetics, 2008
Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients.
Conte C et al.
Genetic Testing, 2008
[Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia].
Fan HL et al.
Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2007
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
Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.
Kobielak K et al.
American Journal of Medical Genetics, 2001
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2001
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
Pääkkönen K et al.
Human Mutation, 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
Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo.
Na GY et al.
Pediatric Dermatology, 0
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.
Zhang J et al.
European Journal of Medical Genetics, 0