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Article

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.

Nature communications - 11 Feb 2023

Yu Kang, Huang Chenhui, Wan Futang, Jiang Cailing, Chen Juan, Li Xiuping, Wang Feng, Wu Jian, Lei Ming, Wu Yiqun

Abstract excerpt

EDA is a tumor necrosis factor (TNF) family member, which functions together with its cognate receptor EDAR during ectodermal organ development. Mutations of EDA have long been known to cause X-linked hypohidrotic dysplasia in humans characterized by primary defects in teeth, hair and sweat glands. However, the structural information of EDA interaction with EDAR is lacking and the pathogenic mechanism of EDA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36765055
DOI: 10.1038/s41467-023-36367-6
PMCID: PMC9918506

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Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.PMID 36765055Read ↗

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.Semantic proximity Read ↗

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Novel Ectodysplasin-A Variants: Structural and Functional Basis of Hypohidrotic Ectodermal DysplasiaSemantic proximity Read ↗

Molecular aspects of hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.Semantic proximity Read ↗

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Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.Semantic proximity Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

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