Results 161 to 170 of about 6,398,385 (224)
En masse evaluation of RNA guides (EMERGe) for ADARs. [PDF]
Methods EnzymolSalvador PJ, Dugan NM, Ouye R, Beal PA.
europepmc +1 more source
Distinguishing self from non-self RNA by editing-specific inosine patterns
Varada R +20 more
europepmc +1 more source
Artificial RNA Editing with ADAR for Gene Therapy
Current Gene Therapy, 2020 Editing mutated genes is a potential way for the treatment of genetic diseases. G-to-A mutations are common in mammals and can be treated by adenosine-to-inosine (A-to-I) editing, a type of substitutional RNA editing. The molecular mechanism of A-to-I editing involves the hydrolytic deamination of adenosine to an inosine base; this reaction is mediated
Sonali Bhakta, Toshifumi Tsukahara
semanticscholar +5 more sources
A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria
European Journal of Dermatology, 2014 Dyschromatosis symmetrica hereditaria (DSH; MIM 127400) is a rare autosomal dominant skin disorder characterized by a mixture of hyper- and hypopigmented macules on the dorsal surface of the extremities and face. Onset of the disease is usually during infancy or early childhood. Dyschromatosis stops spreading before adolescence and lasts for life.
Young Bok Lee +6 more
semanticscholar +4 more sources
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
semanticscholar +5 more sources
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 ...
Qian Ma, Jinlin Wu, Xiangdong Kong
semanticscholar +5 more sources
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 +9 more
semanticscholar +5 more sources
ADAR Gene Family and A-to-I RNA Editing: Diverse Roles in Posttranscriptional Gene Regulation
Progress in Nucleic Acid Research and Molecular Biology, 2005 Publisher Summary The biological process of A-to-I RNA editing mediated by ADAR is discussed with new directions on potentially novel targets, including the widely expressed Alu retrotransposable elements found in noncoding regions of mRNA. Many events take place after the de novo synthesis of an RNA transcript, leading to alterations from its gene ...
Louis Valente, Kazuko Nishikura
semanticscholar +5 more sources
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 +9 more
semanticscholar +5 more sources