Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.T338M
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EDA

NM_001399.5:p.T338M

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

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

Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.

Guo X et al.

International Dental Journal, 2025

Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.

Wu Y et al.

Human Genetics, 2024

Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.

Yu K 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

Treatment strategy for patient with non-syndromic tooth agenesis: a case report and literature review.

Ouyang T et al.

Bmc Oral Health, 2024

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

Yu K et al.

Nature Communications, 2023

36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM2_ESM.pdf

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

Functional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation.

Pan Y et al.

Stem Cells International, 2021

Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.

Zhao K et al.

Oral Diseases, 2019

EDA mutation by exome sequencing in non-syndromic X-linked oligodontia.

Martins L et al.

Clinical Genetics, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.

Chhabra N et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2014

Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.

Kowalczyk-Quintas C et al.

The Journal of Biological Chemistry, 2014

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

Yang Y et al.

Journal of Dental Research, 2013

Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

Liu Y et al.

Gene, 2012

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

[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

Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.

Han D et al.

European Journal of Medical Genetics, 0

Research algorithm for the detection of genetic patterns and phenotypic variety of non-syndromic dental agenesis.

Albu CC et al.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."