Literature DB >> 27654872

PharmGKB summary: very important pharmacogene information for MT-RNR1.

Julia M Barbarino1, Tracy L McGregor, Russ B Altman, Teri E Klein.   

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Year:  2016        PMID： 27654872      PMCID： PMC5083147          DOI： 10.1097/FPC.0000000000000247

Source DB:  PubMed          Journal:  Pharmacogenet Genomics        ISSN： 1744-6872            Impact factor:   2.089


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  111 in total

1.  Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family.

Authors:  Shan-Shan Shen; Chang Liu; Zhi-Yong Xu; Yu-Hua Hu; Guo-Feng Gao; Sha-Yan Wang
Journal:  Biochem Biophys Res Commun       Date:  2012-03-27       Impact factor: 3.575

2.  Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.

Authors:  Justin Cotney; Sharen E McKay; Gerald S Shadel
Journal:  Hum Mol Genet       Date:  2009-05-05       Impact factor: 6.150

3.  Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation.

Authors:  Meichao Men; Lu Jiang; Honghan Wang; Yalan Liu; Zhengmao Hu; Chufeng He; Yong Feng
Journal:  Acta Otolaryngol       Date:  2011-04-19       Impact factor: 1.494

4.  The clinical and audiologic features of hearing loss due to mitochondrial mutations.

Authors:  Joshua C Yelverton; Kathleen Arnos; Xia-Juan Xia; Walter E Nance; Arti Pandya; Kelley M Dodson
Journal:  Otolaryngol Head Neck Surg       Date:  2013-03-22       Impact factor: 3.497

5.  Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.

Authors:  Tomofumi Kato; Yutaka Nishigaki; Yoshihiro Noguchi; Hitomi Ueno; Hiroko Hosoya; Taku Ito; Yurika Kimura; Ken Kitamura; Masashi Tanaka
Journal:  J Hum Genet       Date:  2010-01-29       Impact factor: 3.172

6.  Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.

Authors:  Yu-bin Ji; Dong-Yi Han; Lan Lan; Da-Yong Wang; Liang Zong; Fei-Fan Zhao; Qiong Liu; Cindy Benedict-Alderfer; Qing-yin Zheng; Qiu-Ju Wang
Journal:  Acta Otolaryngol       Date:  2010-12-16       Impact factor: 1.494

7.  Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.

Authors:  Susan Kupka; Tímea Tóth; Maciej Wróbel; Ulrike Zeissler; Witold Szyfter; Krzysztof Szyfter; Grazyna Niedzielska; Jerzy Bal; Hans-Peter Zenner; István Sziklai; Nikolaus Blin; Markus Pfister
Journal:  Hum Mutat       Date:  2002-03       Impact factor: 4.878

8.  Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.

Authors:  Yaping Qian; Min-Xin Guan
Journal:  Antimicrob Agents Chemother       Date:  2009-08-17       Impact factor: 5.191

9.  Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.

Authors:  Katarzyna Iwanicka-Pronicka; Agnieszka Pollak; Agata Skórka; Urszula Lechowicz; Lech Korniszewski; Przemysław Westfal; Henryk Skarżyński; Rafał Płoski
Journal:  Med Sci Monit       Date:  2015-03-06

10.  Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.

Authors:  Xiangyu He; Xiaoyu Zhu; Xuexiang Wang; Wei Wang; Yu Dai; Qingfeng Yan
Journal:  PLoS One       Date:  2013-12-10       Impact factor: 3.240
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  6 in total

1.  Concurrent hearing and genetic screening in a general newborn population.

Authors:  Ling Guo; Jiale Xiang; Lei Sun; Xinyi Yan; Jingjing Yang; Haiyan Wu; Kejian Guo; Jiguang Peng; Xiaomei Xie; Ye Yin; Jian Wang; Huanming Yang; Jun Shen; Lijian Zhao; Zhiyu Peng
Journal:  Hum Genet       Date:  2020-01-30       Impact factor: 4.132

2.  The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence.

Authors:  Viktorija Igumnova; Lauma Veidemane; Anda Vīksna; Valentina Capligina; Egija Zole; Renate Ranka
Journal:  J Hum Genet       Date:  2018-12-06       Impact factor: 3.172

Review 3.  Pharmacogenomic Biomarkers and Their Applications in Psychiatry.

Authors:  Heejin Kam; Hotcherl Jeong
Journal:  Genes (Basel)       Date:  2020-11-30       Impact factor: 4.096

4.  Potential Utility of Pre-Emptive Germline Pharmacogenetics in Breast Cancer.

Authors:  Philip S Bernard; Whitney Wooderchak-Donahue; Mei Wei; Steven M Bray; Kevin C Wood; Baiju Parikh; Gwendolyn A McMillin
Journal:  Cancers (Basel)       Date:  2021-03-11       Impact factor: 6.639

5.  A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.

Authors:  Haiyan Yang; Hongyu Luo; Guiwei Zhang; Junqing Zhang; Zhiyu Peng; Jiale Xiang
Journal:  BMC Med Genomics       Date:  2021-02-27       Impact factor: 3.063

6.  Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.

Authors:  Luhang Cai; Ya Liu; Yaping Xu; Hang Yang; Lihui Lv; Yang Li; Qiongqiong Chen; Xiaojiang Lin; Yihui Yang; Guangwei Hu; Guofeng Zheng; Jing Zhou; Qiyong Qian; Mei-Ai Xu; Jin Fang; Jianjun Ding; Wei Chen; Jiong Gao
Journal:  Front Genet       Date:  2021-07-02       Impact factor: 4.599
  6 in total

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