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
Ectodysplasin Signaling through XEDAR Is Required for Mammary Gland Morphogenesis.
Wark AR et al.
The Journal of Investigative Dermatology, 2023
Limb development genes underlie variation in human fingerprint patterns.
Li J et al.
Cell, 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
Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia.
Riddell J et al.
European Journal of Human Genetics : Ejhg, 2020
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Zhang L et al.
Human Mutation, 2020
Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.
Azar A et al.
Human Molecular Genetics, 2016
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.
Adhikari K et al.
Nature Communications, 2016
A genome-wide association study identifies multiple loci for variation in human ear morphology.
Adhikari K et al.
Nature Communications, 2015
Modeling recent human evolution in mice by expression of a selected EDAR variant.
Kamberov YG et al.
Cell, 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
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
Naeem M et al.
The British Journal of Dermatology, 2005
The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
Kumar A et al.
The Journal of Biological Chemistry, 2001
Involvement of a novel Tnf receptor homologue in hair follicle induction.
Headon DJ et al.
Nature Genetics, 1999
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