Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q358E
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EDA

NM_001399.5:p.Q358E

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

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

Advances in tooth agenesis and tooth regeneration.

Ravi V et al.

Regenerative Therapy, 2023

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

Fournier BP et al.

Journal of Dental Research, 2018

29879364 (PubMed )
Supplement: ds_10.1177_0022034518777460.pdf

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

Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.

Burger K et al.

American Journal of Medical Genetics. Part A, 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

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

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds.

Fan H et al.

European Journal of Oral Sciences, 2008

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 missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Rasool M et al.

Journal of Human Genetics, 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

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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."