Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria-Reference-Cited by-同舟云学术

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Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria

Published:2014-06-20 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Liu Qi,Wang Zhen,Wu Yuhong,Cao Lihua,Tang Qingzhu,Xing Xuesha,Ma Hongwei,Zhang Shifa,Luo Yang

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-15-69.pdf

Reference29 articles.

1. Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y: Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet. 2003, 73: 693-699.

2. Suzuki N, Suzuki T, Inagaki K, Ito S, Kono M, Horikawa T, Fujiwara S, Shiko A, Matsunaga K, Aoyama Y, Tosaki-Ichikawa H, Tomita Y: Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria. J Invest Dermatol. 2007, 127: 309-311.

3. Kondo T, Suzuki T, Mitsuhashi Y, Ito S, Kono M, Komine M, Akita H, Tomita Y: Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes. J Dermatol. 2008, 35: 395-406.

4. Hou YX, Chen JJ, Gao M, Zhou FS, Du WH, Shen KJ, Yang S, Zhang XJ: Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria. Acta Derm Venereol. 2007, 87: 18-21.

5. Liu Q, Jiang L, Liu WL, Kang XJ, Ao Y, Sun M, Luo Y, Song Y, Lo WH, Zhang X: Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. Br J Dermatol. 2006, 154: 636-642.

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis;BMJ Case Reports;2023-03

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. Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene;Clinical and Experimental Dermatology;2020-08-13

5. Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR;European Journal of Human Genetics;2019-07-18

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