Associated Papers
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
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
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
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
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
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 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
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
Bashyam MD et al.
The British Journal of Dermatology, 2012
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
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 Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.
Tarpey P et al.
American Journal of Medical Genetics. Part A, 2007
X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.
Visinoni AF et al.
American Journal of Medical Genetics. Part A, 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
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
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