Results 161 to 170 of about 15,501 (191)

Comparative Activity of Adenosine Deaminase Acting on RNA (ADARs) Isoforms for Correction of Genetic Code in Gene Therapy

Current Gene Therapy, 2019
Introduction: Members of the adenosine deaminase acting on RNA (ADAR) family of enzymes consist of double-stranded RNA-binding domains (dsRBDs) and a deaminase domain (DD) that converts adenosine (A) into inosine (I), which acts as guanosine (G) during translation.
Md Thoufic A, Azad, Umme, Qulsum, Toshifumi, Tsukahara   +2 more
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[Analysis of ADAR gene mutations 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, 2019
To detect mutations of ADAR gene in two pedigrees affected with dyschromatosis symmetrica hereditaria (DSH).Potential mutations of the ADAR gene were analyzed by Sanger sequencing of the probands from both pedigrees. Suspected mutations were validated by Sanger sequencing of other patients from both pedigrees as well as unrelated healthy individuals.A ...
Zhenhua, Zhao, Conghui, Wang, Xiangdong, Kong   +2 more
openaire   +1 more source

[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
openaire   +1 more source

[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
openaire   +1 more source

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
openaire   +2 more sources

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
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A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features

Journal of the European Academy of Dermatology and Venereology, 2017
Dyschromatosis symmetrica hereditaria (DSH), which characterized by hyper- or hypopigmented macules on the dorsal aspect of distal extremities and freckle-like macules on the face, is a rare pigmented genodermatosis that usually restricted to the skin.
C. Chi, Y. Luo, J. Liu
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A functional polymorphism in ADAR1 gene affects HBsAg seroclearance both spontaneously and interferon induced

Liver International, 2014
AbstractBackground & AimsOur previous study found that rs4845384 in ADAR1 gene to be associated with HBeAg seroconversion. However, the effect of rs4845384 on HBsAg seroclearance is unknown. To assess the relationship between rs4845384 and HBsAg seroclearance.MethodsTwo independent case–control studies were conducted to test whether rs4845384 in ...
Xiaopan, Wu, Weimei, Shi, Jia, Wu, Xilin, Zhu, Kangmei, Chen, Sujun, Zheng, Zhuo, Li, Zhongping, Duan, Hui, Li, Ying, Liu   +9 more
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The Promoter-Proximal KCS Element of thePKRKinase Gene Enhances Transcription Irrespective of Orientation and Position Relative to the ISRE Element and Is Functionally Distinct from the KCS-like Element of theADARDeaminase 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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Infantile-onset generalized dystonia with pigmentary mosaicism in ADAR gene mutation: A novel neurocutaneous phenotype

Parkinsonism & Related Disorders, 2023
Hansashree Padmanabha, Nagaraj AR, Gautham Arunachal, Raghavendra K, Maya Bhat, Pooja M, Mathuranath PS, Rohan Mahale   +7 more
openaire   +2 more sources