Literature DB >> 12471220

Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.

F J del Castillo1, M Villamar, M A Moreno-Pelayo, J J Almela, C Morera, I Adiego, F Moreno, I del Castillo.   

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Year:  2002        PMID： 12471220      PMCID： PMC1757234          DOI： 10.1136/jmg.39.12.e82

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


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  6 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.  Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.

Authors:  Katalin Komlósi; Anita Maász; Péter Kisfali; Kinga Hadzsiev; Judit Bene; Béla I Melegh; Béla Melegh; Mária Ablonczy; Krisztina Németh; György Fekete
Journal:  JIMD Rep       Date:  2012-11-02

3.  Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.

Authors:  Xiaoming Li; Nathan Fischel-Ghodsian; Faina Schwartz; Qingfeng Yan; Rick A Friedman; Min-Xin Guan
Journal:  Nucleic Acids Res       Date:  2004-02-11       Impact factor: 16.971

4.  Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.

Authors:  Hui Zhao; Wie-Yen Young; Qingfeng Yan; Ronghua Li; Juyang Cao; Qiuju Wang; Xiaoming Li; Jennifer L Peters; Dongyi Han; Min-Xin Guan
Journal:  Nucleic Acids Res       Date:  2005-02-18       Impact factor: 16.971

5.  A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

Authors:  Shasha Gong; Yanyan Peng; Pingping Jiang; Meng Wang; Mingjie Fan; Xinjian Wang; Hong Zhou; Huawei Li; Qingfeng Yan; Taosheng Huang; Min-Xin Guan
Journal:  Nucleic Acids Res       Date:  2014-06-11       Impact factor: 16.971

6.  The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.

Authors:  Laura Kytövuori; Maria Gardberg; Kari Majamaa; Mika H Martikainen
Journal:  Brain Behav       Date:  2017-11-19       Impact factor: 2.708
  6 in total

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