Results 181 to 190 of about 6,398,385 (224)

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.
Cheng Chi, Yixin Luo, Jie Liu
openalex   +3 more sources

A novel missense mutation of $$\textit{ADAR1}$$ ADAR 1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review

Journal of Genetics, 2017
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH.
Shuai-Mei Liu, Mengxia Ni, Mingchao Zhang, Peiran Zhu, Qiuyu Wu, Weijun Jiang, Jing Zhang, Weiwei Li, Xinyi Xia   +8 more
openalex   +4 more sources

[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, 2022
Ke Yang, Qiaofang Hou, Yu-Wei Zhang, Guiyu Lou, Na Qi, Bing Kang, Bing Zhang, Shixiu Liao   +7 more
openalex   +2 more sources

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 Kenchaiah, Maya Bhat, M Pooja, Mathuranath PS, Rohan Mahale   +7 more
openalex   +3 more sources

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
openalex   +4 more sources

A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria

Journal of the European Academy of Dermatology and Venereology, 2014
Qiuyue Wu, Weiwei Li, N. Li, Tao Li, C. Zhang, Tianming Ni, Yue Cui, Xinjun Li, Xinyi Xia   +8 more
openalex   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

[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

Long-read transcriptomics of Ostreid herpesvirus 1 uncovers a conserved expression strategy for the capsid maturation module and pinpoints a mechanism for evasion of the ADAR-based antiviral defence

bioRxiv
Ostreid herpesvirus 1 (OsHV-1), a member of the family Malacoherpesviridae (order Herpesvirales), is a major pathogen of bivalves. However, the molecular details of the malacoherpesvirus infection cycle and its overall similarity to the replication of ...
U. Rosani, E. Bortoletto, Xiang Zhang, Bo-Wen Huang, Lusheng Xin, M. Krupovic, Chang-Ming Bai   +6 more
semanticscholar   +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

RNA Editing-Mediated Correction of TP53 Nonsense Mutations via Lipid Nanoparticle-Delivered Circular ADAR-Recruiting RNAs.

Journal of the American Chemical Society
Nonsense mutations account for over 20% of disease-associated mutations, which refer to the occurrence of premature termination codons (PTCs) in gene sequences, resulting in truncated and dysfunctional proteins.
Jinjin Wang, Wenjing Zhang, Shuguang Li, Wenjun Shi, Bingyu Li, Jingge Zhang, Yan Liang, Xucong Teng, Kaixiang Zhang   +8 more
semanticscholar   +1 more source