Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.A259E
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EDA

NM_001399.5:p.A259E

Associated Papers

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

Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.

Zhang J et al.

Frontiers in Cell and Developmental Biology, 2025

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

Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.

Zhou Y et al.

Oral Diseases, 2023

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

Yu K et al.

Nature Communications, 2023

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

He F et al.

Bmc Medical Genetics, 2018

Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.

Zeng B et al.

Genes, 2017

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

Zeng B et al.

Genes, 2016

Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

Shen W et al.

Plos One, 2016

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

Zeng B et al.

Oral Diseases, 2015

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

Nikopensius T et al.

Journal of Dental Research, 2013

Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.

Yang Y et al.

Journal of Dental Research, 2013

23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf

Mutations in the PAX9 gene in sporadic oligodontia.

Pawlowska E et al.

Orthodontics & Craniofacial Research, 2010

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

Mues G et al.

European Journal of Human Genetics : Ejhg, 2010

A common founder mutation in the EDA-A1 gene in X-linked hypodontia.

Kurban M et al.

Dermatology (basel, Switzerland), 2010

EDA gene mutations underlie non-syndromic oligodontia.

Song S et al.

Journal of Dental Research, 2009

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