Literature DB >> 12920080

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

F J del Castillo, M Rodríguez-Ballesteros, Y Martín, B Arellano, J Gallo-Terán, C Morales-Angulo, R Ramírez-Camacho, M Cruz Tapia, J Solanellas, A Martínez-Conde, M Villamar, M A Moreno-Pelayo, F Moreno, I del Castillo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12920080      PMCID： PMC1735559          DOI： 10.1136/jmg.40.8.632

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


× No keyword cloud information.
  37 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.  Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Authors:  Min-Xin Guan; Qingfeng Yan; Xiaoming Li; Yelena Bykhovskaya; Jaime Gallo-Teran; Petr Hajek; Noriko Umeda; Hui Zhao; Gema Garrido; Emebet Mengesha; Tsutomu Suzuki; Ignacio del Castillo; Jennifer Lynne Peters; Ronghua Li; Yaping Qian; Xinjian Wang; Ester Ballana; Mordechai Shohat; Jianxin Lu; Xavier Estivill; Kimitsuna Watanabe; Nathan Fischel-Ghodsian
Journal:  Am J Hum Genet       Date:  2006-06-22       Impact factor: 11.025

3.  Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation.

Authors:  Hideki Mutai; Hiroko Kouike; Eiko Teruya; Ikuko Takahashi-Kodomari; Hiroki Kakishima; Hidenobu Taiji; Shin-ichi Usami; Torayuki Okuyama; Tatsuo Matsunaga
Journal:  BMC Med Genet       Date:  2011-10-12       Impact factor: 2.103

4.  Preimplantation genetic diagnosis: its role in prevention of deafness.

Authors:  M K Taneja
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2014-02-20

5.  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

6.  A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss.

Authors:  Yan Bai; Zhengmin Wang; Wenjia Dai; Qingzhong Li; Guoling Chen; Ning Cong; Minxin Guan; Huawei Li
Journal:  BMC Med Genet       Date:  2010-09-07       Impact factor: 2.103

7.  Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.

Authors:  Boris Rebolledo-Jaramillo; Marcia Shu-Wei Su; Nicholas Stoler; Jennifer A McElhoe; Benjamin Dickins; Daniel Blankenberg; Thorfinn S Korneliussen; Francesca Chiaromonte; Rasmus Nielsen; Mitchell M Holland; Ian M Paul; Anton Nekrutenko; Kateryna D Makova
Journal:  Proc Natl Acad Sci U S A       Date:  2014-10-13       Impact factor: 11.205

8.  The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

Authors:  Eugenia Borgione; Mariangela Lo Giudice; Filippa Castello; Sebastiano A Musumeci; Francesco D Di Blasi; Maria Savio; Maurizio Elia; Biagio Rizzo; Giuliano Barbarino; Salvatore Romano; Giuseppe Calabrese; Daniela Di Benedetto; Carmela Scuderi
Journal:  Neurol Sci       Date:  2013-01-25       Impact factor: 3.307

Review 9.  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

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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.