NovelADAR1mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families-Reference-Cited by-同舟云学术

NovelADAR1mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families

Published:2013-04-28 Issue:3 Volume:53 Page:e194-e196
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatol

Author:

Kono Michihiro¹,Suganuma Mutsumi¹,Ito Yasutomo²,Ujiie Hideyuki³,Morimoto Kenichi⁴,Akiyama Masashi¹

Affiliation:

1. Department of Dermatology; Nagoya University, Graduate School of Medicine; Nagoya Japan

2. Division for Medical Research Engineering; Nagoya University, Graduate School of Medicine; Nagoya Japan

3. Department of Dermatology; Hokkaido University, Graduate School of Medicine; Sapporo Japan

4. Division of Dermatology; Onomichi General Hospital; Onomichi Japan

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2012.05765.x/fullpdf

Reference8 articles.

1. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9;Kono;J Dermatol Sci,2000

2. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria;Miyamura;Am J Hum Genet,2003

3. Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria;Kono;J Dermatol,2011

4. Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase;O''Connell;Mol Cell Biol,1995

5. An unwinding activity that covalently modifies its double-stranded RNA substrate;Bass;Cell,1988

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1. Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing;Frontiers in Pediatrics;2023-07-05

2. ADAR1 and its implications in cancer development and treatment;Trends in Genetics;2022-08

3. To protect and modify double-stranded RNA – the critical roles of ADARs in development, immunity and oncogenesis;Critical Reviews in Biochemistry and Molecular Biology;2020-12-27

4. Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1;Journal of the European Academy of Dermatology and Venereology;2018-06-11

5. Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria;NAGOYA J MED SCI;2018