Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R289C
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EDA

NM_001399.5:p.R289C

Associated Papers

Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.

Iengar P et al.

Computational Biology and Chemistry, 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

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Yao L et al.

Bmc Pregnancy and Childbirth, 2025

EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.

Su L et al.

International Journal of Molecular Sciences, 2024

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

Zhou Y et al.

Oral Diseases, 2023

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.

Ahmed HA et al.

Genes, 2021

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

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.

Andreoni F et al.

Molecular Genetics & Genomic Medicine, 2021

Nonsyndromic oligodontia : Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation?

Bock NC et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2017

Novel missense mutation in the EDA gene in a family affected by oligodontia.

Ruiz-Heiland G et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2016

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

Shen W et al.

Plos One, 2016

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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