Results 171 to 180 of about 15,493 (211)

Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria

International Journal of Dermatology, 2016
Yuan Lv, Yan Zhao, Xuegang Xu, Hongkun Jiang, Caixia Liu   +4 more
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esiRNA to eri-1 and adar-1 genes improving high doses of c-myc-directed esiRNA effect on mouse melanoma growth inhibition

Biochemical and Biophysical Research Communications, 2007
Knockdown of c-myc expression via RNAi is expected to be an efficient approach to suppress tumor growth. In our preliminary study, we intraperitoneally injected different doses of c-myc-directed esiRNA (esic-MYC, c-myc-directed Escherichia coli expressed and enzyme digested siRNA) into C57BL6/6J mice with bearing B16 melanoma to investigate the ...
Jie Hong, Yinchun Zhao, Zhengwu Li, Weida Huang   +3 more
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Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

European Journal of Paediatric Neurology, 2017
Aicardi-Goutières syndrome (AGS) is a hereditary inflammatory encephalopathy resulting in severe neurological damage in the majority of cases. We report on two siblings with AGS6 due to compound heterozygosity for a known and a novel mutation in the ADAR gene and a strikingly variable phenotype.
Lisa Schmelzer, Martin Smitka, Christine Wolf, Nadja Lucas, Victoria Tüngler, Gabriele Hahn, Andreas Tzschach, Nataliya Di Donato, Min Ae Lee‐Kirsch, Maja von der Hagen   +9 more
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The Promoter-Proximal KCS Element of the PKR Kinase Gene Enhances Transcription Irrespective of Orientation and Position Relative to the ISRE Element and Is Functionally Distinct from the KCS-like Element of the ADAR Deaminase Promoter

Journal of Interferon & Cytokine Research, 2002
The RNA-dependent protein kinase PKR promoter is interferon (IFN) inducible and possesses a novel 15-base pair (bp) constitutive activator element, designated kinase conserved sequence (KCS), in addition to an IFN-stimulated response element (ISRE). Deletion of the KCS element or point mutations within the KCS element greatly reduce both basal and IFN ...
Simone Visosky Ward, Danielle Markle, Sonali Das, Charles E. Samuel   +3 more
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[Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene.
Ke, Yang, Qiaofang, Hou, Yuwei, Zhang, Guiyu, Lou, Na, Qi, Bing, Kang, Bing, Zhang, Shixiu, Liao   +7 more
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Assignment<footref rid="foot01">¹</footref> of the RNA-specific adenosine deaminase gene (<i>Adar</i>) to mouse chromosome 3F2 by in situ hybridization

Cytogenetic and Genome Research, 2000
H.-U.G. Weier, Cyril X. George, Robert Lersch, S. Breitweser, Jan‐Fang Cheng, Charles E. Samuel   +5 more
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[Analysis on the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).A pedigree of DSH was investigated. Mutation scanning was carried out by PCR and direct sequencing. ADAR gene of 50 normal people was also sequenced as control. Through CBMdisc and PubMed, the mutations of ADAR gene were summarized.A novel mutation of c.
Ming, Li, Li-jia, Yang, Xiao-hong, Zhu, Hai-ping, Zhang, Xun-yi, Dai   +4 more
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[Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria (DSH) in conjunct with developmental delay.A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 28 2021 for abnormal skin pigmentation of the extremities and growth retardation for ...
Yu Zhang, Zheng Chen, Jiandong Wang, Guangshuai Wei, Jiechao Niu, Yao Wang, Huaili Wang   +6 more
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[Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.Variant analysis of the ADAR gene was carried out by Sanger sequencing.Patient 1 was found to harbor a c.2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the
Lingyan Zheng, Ping Yuan, Weiping Deng
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Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria.

The British journal of dermatology, 2006
Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is a dominantly inherited skin disease associated with mutations in ADAR, the gene that encodes a double-stranded RNA-specific adenosine deaminase. We previously reported two novel ADAR mutations (p.Q513X and p.R916W) and confirmed the role of ADAR in Chinese patients with DSH.
Q, Liu, L, Jiang, W-L, Liu, X-J, Kang, Y, Ao, M, Sun, Y, Luo, Y, Song, W H Y, Lo, X, Zhang   +9 more
openaire   +1 more source