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
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
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
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
Kim MJ et al.
Orphanet Journal of Rare Diseases, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
Schneider H et al.
International Journal of Molecular Sciences, 2023
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K et al.
Nature Communications, 2023
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
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
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
Parveen A et al.
International Journal of Molecular Sciences, 2019
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
Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study.
Ngoc VTN et al.
Clinical Genetics, 2018
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Wohlfart S et al.
Journal of Human Genetics, 2016
[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].
Callea M et al.
Archivos Argentinos De Pediatria, 2015
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
Giardino G et al.
Clinical Immunology (orlando, Fla.), 2015
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.
Salas-Alanis JC et al.
Annals of Dermatology, 2015
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia.
Wang J et al.
Annals of Dermatology, 2014
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.
Arte S et al.
Plos One, 2013
Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.
Liu Y et al.
Gene, 2012
[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
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
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
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2001
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