Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.R916W
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ADAR

NM_001111.5:p.R916W

Associated Papers

Novel insights into double-stranded RNA-mediated immunopathology.

de Reuver R et al.

Nature Reviews. Immunology, 2024

A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review.

Ge H et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.

de Reuver R et al.

Cell Reports, 2021

Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China.

Wang P et al.

Molecular Genetics & Genomic Medicine, 2019

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria.

Kobayashi T et al.

Nagoya Journal of Medical Science, 2018

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI et al.

Neuropediatrics, 2017

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.

Zhang GL et al.

Genetics and Molecular Research : Gmr, 2013

Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).

Dong Y et al.

International Journal of Dermatology, 2011

A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation.

Hayashi M et al.

Archives of Dermatological Research, 2010

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.

Li M et al.

Archives of Dermatological Research, 2010

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene.

Murata I et al.

Journal of Dermatological Science, 2010

Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.

Xu Q et al.

Archives of Dermatological Research, 2010

Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria.

Suzuki N et al.

The Journal of Investigative Dermatology, 2007

Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria.

Hou Y et al.

Acta Dermato-venereologica, 2007

Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria.

Liu Q et al.

The British Journal of Dermatology, 2006

A new mutation of the double-stranded RNA-specific adenosine deaminase gene in a family with dyschromatosis symmetrica hereditaria.

Liu Y et al.

Dermatology (basel, Switzerland), 2006

Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.

Suzuki N et al.

The Journal of Investigative Dermatology, 2005

[DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria].

Yang Y et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2004

Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria.

Liu Q et al.

The Journal of Investigative Dermatology, 2004

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