Results 141 to 150 of about 4,347 (166)

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

Archives of Dermatological Research, 2010
Dyschromatosis symmetrica hereditaria (DSH: OMIM no. 127400) is a rare pigmentary genodermatosis predominantly seen in Asia, including Japan, Taiwan and China. It is inherited in autosomal dominant manner and has high penetrance. Its clinical manifestations are intermingled hypoand hyperpigmented macules on the dorsal aspects of hands, feet and the ...
Masahiro, Hayashi, Tamio, Suzuki
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Microglial specific ADAR1 mutation exhibits different innate immune activation from ADAR1 gene deletion in the brain 4044

The Journal of Immunology
Abstract Description   Microglial specific ADAR1 mutation exhibits different innate immune activation from ADAR1 gene deletion in the brain Xinfeng Guo, Chaowei Shang, Clayton Wiley, Richard A. Steinman, Timothy R.
Xinfeng Guo, Chaowei Shang, Clayton Wiley, Richard Steinman, Timmithy Billiar, Qingde Wang   +5 more
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[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2015
To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.Clinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing.
Xiaoli, Chang, Chao, Ci, Jun, Wang, Shouyun, Hang, Bihua, Ji   +4 more
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Combinatory RNA-Sequencing Analyses Reveal a Dual Mode of Gene Regulation by ADAR1 in Gastric Cancer

Digestive Diseases and Sciences, 2018
Adenosine deaminase acting on RNA 1 (ADAR1) is known to mediate deamination of adenosine-to-inosine through binding to double-stranded RNA, the phenomenon known as RNA editing. Currently, the function of ADAR1 in gastric cancer is unclear.This study was aimed at investigating RNA editing-dependent and editing-independent functions of ADAR1 in gastric ...
Charles J. Cho, Jaeeun Jung, Lushang Jiang, Eun Ji Lee, Dae-Soo Kim, Byung Sik Kim, Hee Sung Kim, Hwoon-Yong Jung, Ho-June Song, Sung Wook Hwang, Yangsoon Park, Min Kyo Jung, Chan Gi Pack, Seung-Jae Myung, Suhwan Chang   +14 more
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[Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To identify potential mutation of the ADAR1 gene in a Chinese family and a sporadic case affected with dyschromatosis symmetrica hereditaria(DSH).Clinical data and peripheral blood samples from the pedigree and the sporadic patient were collected. Following extraction of genomic DNA, all 15 exons and exon-intron flanking sequences of the ADAR1 gene ...
Yiping, Liu, Zhengzhong, Zhang, Yunzhu, Mu, Fen, Xiong, Xing, Chen, Hao, Yang, Ping, Yang, Linli, Liu   +7 more
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[Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
To detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH).Clinical data and peripheral blood samples of the patients from the pedigree were collected. Potential mutations of the ADAR1 gene were screened among 2 patients, 2 unaffected individual from the pedigree as ...
Rong, Zeng, Liwei, Wang, Yun, Hui, Yanyan, He, Pangen, Cui, Haoxiang, Xu, Min, Li   +6 more
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Nuclear eNOS interacts with and S-nitrosates ADAR1 to modulate endothelial gene expression

Cardiovascular Research
Abstract Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Collaborative Research Centre (CRC 1366); Chinese Scholarship Council (CSC) Introduction and Aim Nitric oxide (NO) generated by the ...
X Zhou, S Guenther, K Kuenne, I Wittig, I Fleming, M Siragusa   +5 more
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[Analysis of ADAR1 gene variants in two pedigrees affected with dyschromatosis symmetrica hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To detect variants of ADAR1 gene in two Chinese pedigrees affected with dyschromatosis symmetrica hereditaria (DSH).Clinical data and peripheral blood samples of the pedigrees were collected. All exons of the ADAR1 gene were amplified by PCR and subjected to Sanger sequencing.
Qian, Ma, Jinlin, Wu, Xiangdong, Kong
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[The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011
To analyze the mutation of the adenosine deaminase acting on RNA 1 (ADAR1) gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).Mutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls.A missense mutation of c.3463C>T, which results in p.R1155W in
Jun, Song, Huan, Zhou, Ren-qi, Lu, Li-ping, Zhang, Hong, Sun   +4 more
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Mutation Analysis of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria

Australasian Journal of Dermatology, 2014
Huang, Yijin, Zhao, Xiaoyan, Mei, Qin, Cheng, Bo, Zhao, Yan, Shangguan, Zhaoshui   +5 more
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