Literature DB >> 15286157

Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.

R Li, J H Greinwald, L Yang, D I Choo, R J Wenstrup, M-X Guan.   

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Year:  2004        PMID： 15286157      PMCID： PMC1735864          DOI： 10.1136/jmg.2004.020230

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  40 in total

1.  Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

Authors:  Huijun Yuan; Yaping Qian; Yanjun Xu; Juyang Cao; Linna Bai; Weidong Shen; Fei Ji; Xin Zhang; Dongyang Kang; Jun Qin Mo; John H Greinwald; Dongyi Han; Suoqiang Zhai; Wie-Yen Young; Min-Xin Guan
Journal:  Am J Med Genet A       Date:  2005-10-01       Impact factor: 2.802

2.  Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.

Authors:  Zhiyuan Li; Ronghua Li; Jianfu Chen; Zhisu Liao; Yi Zhu; Yaping Qian; Sudao Xiong; Selena Heman-Ackah; Jianbo Wu; Daniel I Choo; Min-Xin Guan
Journal:  Hum Genet       Date:  2005-04-20       Impact factor: 4.132

3.  Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit.

Authors:  Antón Vila-Sanjurjo; Paul M Smith; Joanna L Elson
Journal:  Methods Mol Biol       Date:  2021

4.  Analysis of mitochondrial A1555G mutation in infants with hearing impairment.

Authors:  Lihua Wu; Ruiyu Li; Juan Chen; Yanping Chen; Meijun Yang; Qing Wu
Journal:  Exp Ther Med       Date:  2018-04-18       Impact factor: 2.447

5.  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

6.  Audiological and genetic features of the mtDNA mutations.

Authors:  X Z Liu; S Angeli; X M Ouyang; W Liu; X M Ke; Y H Liu; S X Liu; L L Du; X W Deng; H Yuan; D Yan
Journal:  Acta Otolaryngol       Date:  2008-07       Impact factor: 1.494

7.  Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

Authors:  Xinjian Wang; Jianxin Lu; Yi Zhu; Aifen Yang; Li Yang; Ronghua Li; Bobei Chen; Yaping Qian; Xiaowen Tang; Jindan Wang; Xue Zhang; Min-Xin Guan
Journal:  Pharmacogenet Genomics       Date:  2008-12       Impact factor: 2.089

Review 8.  PharmGKB summary: very important pharmacogene information for MT-RNR1.

Authors:  Julia M Barbarino; Tracy L McGregor; Russ B Altman; Teri E Klein
Journal:  Pharmacogenet Genomics       Date:  2016-12       Impact factor: 2.089

9.  The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.

Authors:  Zhisu Liao; Jianyue Zhao; Yi Zhu; Li Yang; Aifen Yang; Dongmei Sun; Zhongnong Zhao; Xinjian Wang; Zhihua Tao; Xiaowen Tang; Jindan Wang; Minqiang Guan; Jiafu Chen; Zhiyuan Li; Jianxin Lu; Min-Xin Guan
Journal:  Biochem Biophys Res Commun       Date:  2007-08-15       Impact factor: 3.575

10.  Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Authors:  Yongyi Yuan; Yiwen You; Deliang Huang; Jinghong Cui; Yong Wang; Qiang Wang; Fei Yu; Dongyang Kang; Huijun Yuan; Dongyi Han; Pu Dai
Journal:  J Transl Med       Date:  2009-09-10       Impact factor: 5.531
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