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The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Jiang, Pingping; Jin, Xiaofen; Peng, Yanyan; Wang, Meng; Liu, Hao; Liu, Xiaoling; Zhang, Zengjun; Ji, Yanchun; Zhang, Juanjuan; Liang, Min; Zhao, Fuxin; Sun, Yan-Hong; Zhang, Minglian; Zhou, Xiangtian; Chen, Ye; Mo, Jun Qin; Huang, Taosheng; Qu, Jia; Guan, Min-Xin.
Afiliação
  • Jiang P; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China.
  • Jin X; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China.
  • Peng Y; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Wang M; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China.
  • Liu H; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China.
  • Liu X; School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China, Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China.
  • Zhang Z; School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China, Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China.
  • Ji Y; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China.
  • Zhang J; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China, School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China, Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang,
  • Liang M; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China.
  • Zhao F; School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China, Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China.
  • Sun YH; Department of Ophthalmology, Beijing University of Chinese Medicine and Pharmacology, Beijing, China.
  • Zhang M; Department of Ophthalmology, Hebei Provincial Eye Hospital, Xingtai, Hebei, China and.
  • Zhou X; School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China, Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China.
  • Chen Y; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China.
  • Mo JQ; Department of Pathology, Rady Children's Hospital, University of California School of Medicine, San Diego, CA, USA.
  • Huang T; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Qu J; School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China, Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China.
  • Guan MX; Institute of Genetics, Zhejiang University, School of Medicine, Hangzhou, Zhejiang, China, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China, gminxin88@zju.edu.cn.
Hum Mol Genet ; 25(3): 584-96, 2016 Feb 01.
Article em En | MEDLINE | ID: mdl-26647310
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina-tRNA Ligase / DNA Mitocondrial / Atrofia Óptica Hereditária de Leber / Proteínas Mitocondriais / Mitocôndrias / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: China
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina-tRNA Ligase / DNA Mitocondrial / Atrofia Óptica Hereditária de Leber / Proteínas Mitocondriais / Mitocôndrias / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: China