Associated Papers
Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
Yagi S et al.
The Journal of Dermatology, 2023
An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases.
Inazawa-Terada M et al.
The Journal of Dermatology, 2022
A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2021
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Zhang L et al.
Human Mutation, 2020
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC et al.
Orphanet Journal of Rare Diseases, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
Bibi N et al.
The Australasian Journal of Dermatology, 2011
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C et al.
Human Mutation, 2011
A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia.
Masui Y et al.
Dermatology (basel, Switzerland), 2011
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