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Min-Xin Guan

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Chu-Qin Zhang; Yu-Yao Zhang; Jing Zheng; Bo-bei Chen; Ying-Ying Chen; Jin-Jian Gao; Sai-Yu Huang; Xue-Jun Liu; Ben-Yu Nan; Xiao Yu; Min-Xin Guan
[Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing impairment].
Guang-Hua Peng; Xiao-Wen Tang; Yue Wu; Xiao Yu; Bin-Jiao Zheng; Jing Zheng; Yi Zhu; Bo-bei Chen; Fang Fang; Ling-Zhi Liang; Jian-Xin Lu; Ben-Yu Nan; Min-Xin Guan
[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].
Xiao-wen Tang; Min-Xin Guan
[Mitochondrial DNA secondary mutation associated with deafness].

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2013: Chu-Qin Zhang; Yu-Yao Zhang; Jing Zheng; Bo-bei Chen; Ying-Ying Chen; Jin-Jian Gao; Sai-Yu Huang; Xue-Jun Liu; Ben-Yu Nan; Xiao Yu; Min-Xin Guan
[Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing impairment].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2013;35(3):352-8.
2013: Guang-Hua Peng; Xiao-Wen Tang; Yue Wu; Xiao Yu; Bin-Jiao Zheng; Jing Zheng; Yi Zhu; Bo-bei Chen; Fang Fang; Ling-Zhi Liang; Jian-Xin Lu; Ben-Yu Nan; Min-Xin Guan
[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2013;35(1):62-72.
2012: Xiao-wen Tang; Min-Xin Guan
[Mitochondrial DNA secondary mutation associated with deafness].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2012;47(12):1050-3.
2012: Ling-Zhi Liang; Yue Wu; Bin-Jiao Zheng; Jing Zheng; Fang Fang; Min-Xin Guan
[Molecular mechanisms underlying function of hair bundle: study on genetic deafness in mouse models].
Sheng li xue bao : [Acta physiologica Sinica] 2012;64(4):481-8.
2012: Hui-Hui Zhou; Xing-tao Zhou; Xian-Ning Dai; Bei Lin; Xiao-Ling Liu; Hui Mi; Jia Qu; Yan-Hong Sun; Qi-Ping Wei; Juan-Juan Zhang; Fu-Xin Zhao; Min-Xin Guan
[The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2012;34(8):1031-42.
2012: Qiaomeng Qiu; Yaman Song; Ling Xue; Shaoce Zhi; Jungang Han; Pingping Jiang; Ronghua Li; Yang Lu; Zhongqiu Lu; Jun Qin Mo; Min-Xin Guan
Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees.
Human mutation 2012;33(8):1285-93.
2012: Ya-Man Song; Zhong-Qiu Lu; Min-Xin Guan
[Mitochondria couple cellular Ca(2+) signal transduction].
Sheng li xue bao : [Acta physiologica Sinica] 2012;64(3):333-40.
2012: Bin-Jiao Zheng; Jing Zheng; Yi Zhu; Bo-bei Chen; Fang Fang; Ling-Zhi Liang; Jian-Xin Lu; Ben-Yu Nan; Guang-Hua Peng; Xiao-Wen Tang; Yue Wu; Min-Xin Guan
[Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Province].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2012;34(6):695-704.
2012: Hong Chen; Fang Fang; Pingping Jiang; Jianxin Lu; Zhongqiu Lu; Yanzi Meng; Jun Qin Mo; Qiaomeng Qiu; Suxue Shi; Yan Wang; Ling Xue; Bingjiao Zheng; Jing Zheng; Min-Xin Guan
The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.
European journal of human genetics : EJHG 2012;20(6):607-12.
2012: Jing Zheng; Yanchun Ji; Min-Xin Guan
Mitochondrial tRNA mutations associated with deafness.
Mitochondrion 2012;12(3):406-13.
2012: Juanjuan Zhang; Huihui Zhou; Xianning Dai; Xujie Dong; Hao Feng; Yan Li; Bing Lin; Xiao-Ling Liu; Yimin Yuan; Min-Xin Guan
A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.
Biochemical and biophysical research communications 2012;419(4):670-5.
2012: Nuno Raimundo; Joseph Santos-Sacchi; Timothy E Shutt; Lei Song; Justin Cotney; Thomas C Gilliland; Min-Xin Guan; David Hohuan; Sharen E McKay; Gerald S Shadel
Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness.
Cell 2012;148(4):716-26.
2012: Xiangtian Zhou; Xianning Dai; Yanchun Ji; Pingping Jiang; Min Liang; Jun Qin Mo; Yaping Qian; Jia Qu; Yi Tong; Juanjuan Zhang; Fuxin Zhao; Huihui Zhou; Min-Xin Guan
Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.
Investigative ophthalmology & visual science 2012;53(8):4586-94.
2011: Yaping Qian; Jia Qu; Xiangtian Zhou; Min Liang; Min-Xin Guan
The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation.
Mitochondrion 2011;11(6):871-7.
2011: Zhongqiu Lu; Yanzi Meng; Jun Qin Mo; Qiaomeng Qiu; Yan Wang; Ling Xue; Li Yang; Shaoce Zhi; Hong Chen; Min-Xin Guan
The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.
European journal of human genetics : EJHG 2011;19(11):1181-6.
2011: Xukun Yan; Jianning Zhang; Yi Zhu; Yan Bai; Guoling Chen; Yingzi He; Pingping Jiang; Huawei Li; Ronghua Li; Wen Li; Qin Lin; Jianxin Lu; Jun Qin Mo; Mingzhi Sun; Shan Sun; Xinjian Wang; Zhengmin Wang; Qingfeng Yan; Min-Xin Guan
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
Journal of medical genetics 2011;48(10):682-90.
2011: Ling Xue; Hong Chen; Jian-Xin Lu; Zhong-Qiu Lu; Yan-Zi Meng; Yan Wang; Min-Xin Guan
[Mutations in mitochondrial DNA associated with hypertension].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2011;33(9):911-8.
2011: Xiao-Ling Liu; Xiangtian Zhou; Jian Zhou; Fuxin Zhao; Juanjuan Zhang; Chengwu Li; Yanchun Ji; Yu Zhang; Qi-Ping Wei; Yan-Hong Sun; Li Yang; Bing Lin; Yumin Yuan; Yingzi Li; Jia Qu; Min-Xin Guan
Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.
Ophthalmology 2011;118(5):978-85.
2011: Yan-Chun Ji; Xiao-Ling Liu; Fu-Xin Zhao; Juan-Juan Zhang; Yu Zhang; Xing-tao Zhou; Jia Qu; Min-Xin Guan
[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2011;33(4):322-8.
2011: Ai-fen YANG; Jing ZHENG; Jian-xin LV; Min-Xin Guan
[Modifier factors influencing the phenotypic manifestation of the deafness associated mitochondrial DNA mutations].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2011;28(2):165-71.
2011: Shiwen Wang; Ronghua Li; Andrea Fettermann; Zongbin Li; Yaping Qian; Yuqi Liu; Xinjian Wang; Anna Zhou; Jun Qin Mo; Li Yang; Pingping Jiang; Andreas Taschner; Walter Rossmanith; Min-Xin Guan
Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family.
Circulation research 2011;108(7):862-70.
2011: Min-Xin Guan
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity.
Mitochondrion 2011;11(2):237-45.
2011: Zhisen Shen; Jing Zheng; Bobei Chen; Guanghua Peng; Ting Zhang; Shasha Gong; Yi Zhu; Chuqin Zhang; Ronghua Li; Li Yang; Jianjin Zhou; Ting Cai; Lihua Jin; Jianxin Lu; Min-Xin Guan
Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics.
Journal of translational medicine 2011;9():4.
2011: Haris Kokotas; Maria Grigoriadou; Li Yang; Marianne Lodahl; Nanna Dahl Rendtorff; Yolanda Gyftodimou; George S Korres; Elisabeth Ferekidou; Dimitrios Kandiloros; Stavros Korres; Lisbeth Tranebjaerg; Min-Xin Guan; Michael B Petersen
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.
International journal of pediatric otorhinolaryngology 2011;75(1):89-94.
2010: Minglian Zhang; Xiangtian Zhou; Chengwu Li; Fuxin Zhao; Juanjuan Zhang; Meixia Yuan; Yan-Hong Sun; Jingzheng Wang; Yi Tong; Min Liang; Li Yang; Wanshi Cai; Lifei Wang; Jia Qu; Min-Xin Guan
Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation.
Molecular genetics and metabolism 2010;101(2-3):192-9.
2010: Jia Qu; Ying Wang; Yi Tong; Xiangtian Zhou; Fuxin Zhao; Li Yang; Shoukang Zhang; Juanjuan Zhang; Constance E West; Min-Xin Guan
Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.
Investigative ophthalmology & visual science 2010;51(10):4906-12.
2010: Juanjuan Zhang; Xiangtian Zhou; Jian Zhou; Chengwu Li; Fuxin Zhao; Yan Wang; Yanzi Meng; Jiying Wang; Meixia Yuan; Wanshi Cai; Yi Tong; Yan-Hong Sun; Li Yang; Jia Qu; Min-Xin Guan
Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.
Biochemical and biophysical research communications 2010;399(4):647-53.
2010: Xiangtian Zhou; Hongxing Zhang; Fuxin Zhao; Yanchun Ji; Yi Tong; Juanjuan Zhang; Yu Zhang; Li Yang; Yaping Qian; Fan Lu; Jia Qu; Min-Xin Guan
Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.
Molecular genetics and metabolism 2010;100(4):379-84.
2010: Jianxin Lu; Zhiyuan Li; Yi Zhu; Aifen Yang; Ronghua Li; Jing Zheng; Qin Cai; Guanghua Peng; Wuwei Zheng; Xiaowen Tang; Bobei Chen; Jianfu Chen; Zhisu Liao; Li Yang; Yongyan Li; Junyan You; Yu Ding; Hong Yu; Jindan Wang; Dongmei Sun; Jianyue Zhao; Ling Xue; Jiying Wang; Min-Xin Guan
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.
Mitochondrion 2010;10(4):380-90.
2010: Ronghua Li; Min-Xin Guan
Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
Molecular and cellular biology 2010;30(9):2147-54.
2010: Xiaowen Tang; Ronghua Li; Jing Zheng; Qin Cai; Ting Zhang; Shasha Gong; Wuwei Zheng; Xiumei He; Yi Zhu; Ling Xue; Aifen Yang; Li Yang; Jianxin Lu; Min-Xin Guan
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
Molecular genetics and metabolism 2010;100(1):57-64.
2010: Yong-Mei Zhang; Yan-Chun Ji; Xiao-Ling Liu; Xing-tao Zhou; Fu-Xin Zhao; Yan-Hong Sun; Qi-Ping Wei; Juan-Juan Zhang; Yan Liu; Jia Qu; Min-Xin Guan
[Leber's hereditary optic neuropathy may be associated with the mitochondrial tRNAGlu A14693G mutation in three Chinese families].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2010;32(4):353-9.
2010: Yi Tong; Yan-Hong Sun; Xiangtian Zhou; Fuxin Zhao; Yijian Mao; Qi-ping Wei; Li Yang; Jia Qu; Min-Xin Guan
Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.
Molecular genetics and metabolism 2010;99(4):417-24.
2010: Jia Qu; Xiangtian Zhou; Fuxin Zhao; Xiaoling Liu; Minglian Zhang; Yan-Hong Sun; Min Liang; Meixia Yuan; Qi Liu; Yi Tong; Qi-Ping Wei; Li Yang; Min-Xin Guan
Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.
Biochimica et biophysica acta 2010;1800(3):305-12.
2010: Xinjian Wang; Qingfeng Yan; Min-Xin Guan
Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration.
Journal of molecular biology 2010;395(5):1038-48.
2010: Yan Liu; Shu-Liu Zhuang; Yi Tong; Jia Qu; Xiang-Tian Zhou; Fu-Xin Zhao; Juan-Juan Zhang; Yong-Mei Zhang; Yu Zhang; Min-Xin Guan
[Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2010;32(2):141-7.
2010: Jianxin Lu; Yaping Qian; Zhiyuan Li; Aifen Yang; Yi Zhu; Ronghua Li; Li Yang; Xiaowen Tang; Bobei Chen; Yu Ding; Yongyan Li; Junyan You; Jing Zheng; Zhihua Tao; Fuxin Zhao; Jindan Wang; Dongmei Sun; Jianyue Zhao; Yanzi Meng; Min-Xin Guan
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.
Mitochondrion 2010;10(1):69-81.
2009: Fuxin Zhao; Minqiang Guan; Xiangtian Zhou; Meixia Yuan; Ming Liang; Qi Liu; Yan Liu; Yongmei Zhang; Li Yang; Yi Tong; Qi-Ping Wei; Yan-Hong Sun; Jia Qu; Min-Xin Guan
Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.
Biochemical and biophysical research communications 2009;389(3):466-72.
2009: Yaping Qian; Min-Xin Guan
Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.
Antimicrobial agents and chemotherapy 2009;53(11):4612-8.
2009: Ronghua Li; Yuqi Liu; Zongbin Li; Li Yang; Shiwen Wang; Min-Xin Guan
Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.
Hypertension 2009;54(2):329-37.
2009: Min Liang; Minqiang Guan; Fuxing Zhao; Xiangtian Zhou; Meixia Yuan; Yi Tong; Li Yang; Qi-Ping Wei; Yan-Hong Sun; Fan Lu; Jia Qu; Min-Xin Guan
Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.
Biochemical and biophysical research communications 2009;383(3):286-92.
2009: Xinjian Wang; Qingfeng Yan; Min-Xin Guan
Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae.
Mitochondrion 2009;9(3):180-5.
2009: Yuqi Liu; Ronghua Li; Zongbin Li; Xin-Jian Wang; Li Yang; Shiwen Wang; Min-Xin Guan
Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.
Hypertension 2009;53(6):1083-90.
2009: Yu Ding; Yongyan Li; Junyan You; Li Yang; Bobei Chen; Jianxin Lu; Min-Xin Guan
Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.
Journal of genetics and genomics = Yi chuan xue bao 2009;36(4):241-50.
2009: Xiaoyu Zhu; Xuerui Peng; Min-Xin Guan; Qingfeng Yan
Pathogenic mutations of nuclear genes associated with mitochondrial disorders.
Acta biochimica et biophysica Sinica 2009;41(3):179-87.
2009: Jia Qu; Xiangtian Zhou; Juanjuan Zhang; Fuxin Zhao; Yan-Hong Sun; Yi Tong; Qi-Ping Wei; Wansi Cai; Li Yang; Constance E West; Min-Xin Guan
Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
Ophthalmology 2009;116(3):558-564.e3.
2008: Wanshi Cai; Qun Fu; Xiangtian Zhou; Jia Qu; Yi Tong; Min-Xin Guan
Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.
Journal of genetics and genomics = Yi chuan xue bao 2008;35(11):649-55.
2008: Xiao-Wen Tang; Zhi-Yuan Li; Jian-Xin Lu; Yi Zhu; Rong-Hua Li; Jin-Dan Wang; Min-Xin Guan
[Mitochondrial tRNAThr G15927A mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation.].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2008;30(10):1287-94.
2008: Jing Chen; Huijun Yuan; Jianxin Lu; Xin Liu; Guojian Wang; Yi Zhu; Jing Cheng; Xinjian Wang; Bing Han; Li Yang; Shuzhi Yang; Aifeng Yang; Qing Sun; Dongyang Kang; Xin Zhang; Pu Dai; Suoqiang Zhai; Dongyi Han; Wie-Yen Young; Min-Xin Guan
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
Mitochondrion 2008;8(4):285-92.
2008: Na Li; Shao-Bo Chen; Qi-Lang Xie; Jian-Xin Lu; Min-Xin Guan
[Polymorphisms of mitochondrial Cyt b gene and D-loop region in sweetfish (Plecoglossus altivelis Temminck et Schlegel) from Zhejiang and Fujian Provinces].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2008;30(7):919-25.
2008: Bobei Chen; Dongmei Sun; Li Yang; Chuqin Zhang; Aifen Yang; Yi Zhu; Jianyue Zhao; Yingying Chen; Minqiang Guan; Xinjian Wang; Ronghua Li; Xiaowen Tang; Jindan Wang; Zhihua Tao; Jianxin Lu; Min-Xin Guan
Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.
American journal of medical genetics. Part A 2008;146A(10):1248-58.
2008: Yuqi Liu; Zongbin Li; Li Yang; Shiwen Wang; Min-Xin Guan
The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension.
Biochemical and biophysical research communications 2008;368(1):18-22.
2008: Zongbin Li; Yuqi Liu; Li Yang; Shiwen Wang; Min-Xin Guan
Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese family.
Biochemical and biophysical research communications 2008;367(4):906-11.
2007: 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
The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.
Biochemical and biophysical research communications 2007;362(3):670-6.
2007: Jianfu Chen; Li Yang; Aifen Yang; Yi Zhu; Jianyue Zhao; Dongmei Sun; Zhihua Tao; Xiaowen Tang; Jindan Wang; Xinjian Wang; Asami Tsushima; Jinshan Lan; Weixing Li; Fangli Wu; Qian Yuan; Jingzhang Ji; Jinbao Feng; Chunli Wu; Zhisu Liao; Zhiyuan Li; John H Greinwald; Jianxin Lu; Min-Xin Guan
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
Gene 2007;401(1-2):4-11.
2007: Huijun Yuan; Jing Chen; Xin Liu; Jing Cheng; Xinjian Wang; Li Yang; Shuzhi Yang; Juyang Cao; Dongyang Kang; Pu Dai; Suoqiang Zhai; Dongyi Han; Wie-Yen Young; Min-Xin Guan
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.
Biochemical and biophysical research communications 2007;362(1):94-100.
2007: Fu-xin Zhao; Xing-tao Zhou; Jia Qu; Qi-ping Wei; Yi Tong; Li Yang; Jian-xin Lv; Min-Xin Guan
[Leber's hereditary optic neuropathy is associated with the mitochondrial G11696A mutation in two Chinese families].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007;24(5):556-9.
2007: Longjin Jin; Aifen Yang; Yi Zhu; Jianyue Zhao; Xinjian Wang; Li Yang; Dongmei Sun; Zhihua Tao; Asami Tsushima; Guomin Wu; Limin Xu; Chongxi Chen; Boquan Yi; Jianxin Cai; Xiaowen Tang; Jindan Wang; Dong Li; Qian Yuan; Zhisu Liao; Jiafu Chen; Zhiyuan Li; Jianxin Lu; Min-Xin Guan
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
Biochemical and biophysical research communications 2007;361(1):133-9.
2007: Xinjian Wang; Qingfeng Yan; Min-Xin Guan
Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae.
FEBS letters 2007;581(22):4228-34.
2007: Qi-Ping Wei; Zhou Xiangtian; Li Yang; Yan-Hong Sun; Jian Zhou; Guang Li; Robert Jiang; Fan Lu; Jia Qu; Min-Xin Guan
The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.
Biochemical and biophysical research communications 2007;357(4):910-6.
2007: Dongyi Han; Pu Dai; Qingwen Zhu; Xin Liu; Deliang Huang; Yongyi Yuan; Huijun Yuan; Xinjian Wang; Yaping Qian; Wie-Yen Young; Min-Xin Guan
The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.
Biochemical and biophysical research communications 2007;357(2):554-60.
2007: Yi Tong; Yijian Mao; Zhou Xiangtian; Li Yang; Juanjuan Zhang; Wanshi Cai; Fuxing Zhao; Xinjian Wang; Fan Lu; Jia Qu; Min-Xin Guan
The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy.
Biochemical and biophysical research communications 2007;357(2):524-30.
2007: Xiaowen Tang; Li Yang; Yi Zhu; Zhisu Liao; Jindan Wang; Yaping Qian; Zhihua Tao; Lenong Hu; Guomin Wu; Jinshan Lan; Xinjian Wang; Jingzhang Ji; Jian Wu; Yu Ji; Jinbao Feng; Jianfu Chen; Zhiyuan Li; Xue Zhang; Jianxin Lu; Min-Xin Guan
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
Gene 2007;393(1-2):11-9.
2007: Jia Qu; Ronghua Li; Zhou Xiangtian; Yi Tong; Li Yang; Jie Chen; Fuxing Zhao; Chunjie Lu; Yaping Qian; Fan Lu; Min-Xin Guan
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.
Mitochondrion 2007;7(1-2):140-6.
2006: Wie-Yen Young; Lidong Zhao; Yaping Qian; Ronghua Li; Jing Chen; Huijun Yuan; Pu Dai; Suoqiang Zhai; Dongyi Han; Min-Xin Guan
Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss.
American journal of medical genetics. Part A 2006;140(20):2188-97.
2006: Jianxin Lu; Dawang Wang; Ronghua Li; Weixing Li; Jingzhang Ji; Jing Zhao; Wei Ye; Li Yang; Yaping Qian; Yi Zhu; Min-Xin Guan
Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family.
Biochemical and biophysical research communications 2006;348(1):115-9.
2006: Pu Dai; Yongyi Yuan; Deliang Huang; Yaping Qian; Xin Liu; Dongyi Han; Huijun Yuan; Xinjiang Wang; Wie-Yen Young; Min-Xin Guan
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families.
Biochemical and biophysical research communications 2006;348(1):200-5.
2006: Yan-Hong Sun; Qi-Ping Wei; Zhou Xiangtian; Yaping Qian; Jian Zhou; Fan Lu; Jia Qu; Min-Xin Guan
Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.
Biochemical and biophysical research communications 2006;347(1):221-5.
2006: 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
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
American journal of human genetics 2006;79(2):291-302.
2006: Ronghua Li; Jia Qu; Zhou Xiangtian; Yi Tong; Yongwu Hu; Yaping Qian; Fan Lu; Jun Qin Mo; Constance E West; Min-Xin Guan
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.
Gene 2006;376(1):79-86.
2006: Wei-jia Kong; Yu-juan Hu; Qiong Wang; Ying Wang; Yue-chen Han; Hua-Mao Cheng; Weijia Kong; Min-Xin Guan
The effect of the mtDNA4834 deletion on hearing.
Biochemical and biophysical research communications 2006;344(1):425-30.
2006: Qingfeng Yan; Yelena Bykhovskaya; Ronghua Li; Emebet Mengesha; Mordechai Shohat; Xavier Estivill; Nathan Fischel-Ghodsian; Min-Xin Guan
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
Biochemical and biophysical research communications 2006;342(4):1130-6.
2006: Yi Zhu; Yaping Qian; Xiaowen Tang; Jindan Wang; Li Yang; Zhisu Liao; Ronghua Li; Jinzhang Ji; Zhiyuan Li; Jianfu Chen; Daniel I Choo; Jianxin Lu; Min-Xin Guan
Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families.
Biochemical and biophysical research communications 2006;342(3):843-50.
2006: Qiuju Wang; Qing-Zhong Li; Dongyi Han; Yali Zhao; Lidong Zhao; Yaping Qian; Hu Yuan; Ronghua Li; Suoqiang Zhai; Wie-Yen Young; Min-Xin Guan
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.
Biochemical and biophysical research communications 2006;340(2):583-8.
2006: Pu Dai; Xin Liu; Dongyi Han; Yaping Qian; Deliang Huang; Huijun Yuan; Weiming Li; Fei Yu; Ruining Zhang; Hongyan Lin; Yong He; Youjun Yu; Quanzhu Sun; Huaiyi Qin; Ronghua Li; Xin Zhang; Dongyang Kang; Juyang Cao; Wie-Yen Young; Min-Xin Guan
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
Biochemical and biophysical research communications 2006;340(1):194-9.
2006: Zhou Xiangtian; Qiping Wei; Li Yang; Yi Tong; Fuxin Zhao; Chunjie Lu; Yaping Qian; Yanghong Sun; Fan Lu; Jia Qu; Min-Xin Guan
Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.
Biochemical and biophysical research communications 2006;340(1):69-75.
2006: Jia Qu; Ronghua Li; Zhou Xiangtian; Yi Tong; Fan Lu; Yaping Qian; Yongwu Hu; Jun Qin Mo; Constance E West; Min-Xin Guan
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.
Investigative ophthalmology & visual science 2006;47(2):475-83.
2005: Lidong Zhao; Qiuju Wang; Yaping Qian; Ronghua Li; Juayng Cao; Laura Christine Hart; Suoqiang Zhai; Dongyi Han; Wie-Yen Young; Min-Xin Guan
Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss.
Biochemical and biophysical research communications 2005;336(3):967-73.
2005: 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
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.
American journal of medical genetics. Part A 2005;138A(2):133-40.
2005: Jian-Xin Lu; Ying Peng; Zhe-Feng Meng; Li-Qin Jin; Yong-Sui Lu; Min-Xin Guan
Rational design of an EGF-IL18 fusion protein: implication for developing tumor therapeutics.
Biochemical and biophysical research communications 2005;334(1):157-61.
2005: Qingfeng Yan; Xiaoming Li; Gèrard Faye; Min-Xin Guan
Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA.
The Journal of biological chemistry 2005;280(32):29151-7.
2005: Yaping Qian; Zhou Xiangtian; Yongwu Hu; Yi Tong; Ronghua Li; Fan Lu; Huanming Yang; Jun Qin Mo; Jia Qu; Min-Xin Guan
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.
Biochemical and biophysical research communications 2005;332(2):614-21.
2005: 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
Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.
Human genetics 2005;117(1):9-15.
2005: Wie-Yen Young; Lidong Zhao; Yaping Qian; Qiuju Wang; Ning Li; John H Greinwald; Min-Xin Guan
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.
Biochemical and biophysical research communications 2005;328(4):1244-51.
2005: Jia Qu; Ronghua Li; Yi Tong; Yongwu Hu; Zhou Xiangtian; Yaping Qian; Fan Lu; Min-Xin Guan
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.
Biochemical and biophysical research communications 2005;328(4):1139-45.
2005: Xiaoming Li; Linda S Zhang; Nathan Fischel-Ghodsian; Min-Xin Guan
Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.
Biochemical and biophysical research communications 2005;328(2):491-8.
2005: Ronghua Li; Kotaro Ishikawa; Jian-Hong Deng; Selena Heman-Ackah; Yuya Tamagawa; Li Yang; Yidong Bai; Keiichi Ichimura; Min-Xin Guan
Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.
Biochemical and biophysical research communications 2005;328(1):32-7.
2005: Qiuju Wang; Roughua Li; Hui Zhao; Jennifer L Peters; Qiong Liu; Li Yang; Dongyi Han; John H Greinwald; Wie-Yen Young; Min-Xin Guan
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
American journal of medical genetics. Part A 2005;133A(1):27-30.
2005: Xiaoming Li; Linda S Zhang; Min-Xin Guan
Cloning and characterization of mouse mTERF encoding a mitochondrial transcriptional termination factor.
Biochemical and biophysical research communications 2005;326(2):505-10.
2005: Hui Zhao; Wie-Yen Young; Qingfeng Yan; Ronghua Li; Juyang Cao; Qiuju Wang; Xiaoming Li; Jennifer L Peters; Dongyi Han; Min-Xin Guan
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.
Nucleic acids research 2005;33(3):1132-9.
2004: Lidong Zhao; Wie-Yen Young; Roughua Li; Qiuju Wang; Yaping Qian; Min-Xin Guan
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation.
Biochemical and biophysical research communications 2004;325(4):1503-8.
2004: R Li; John H Greinwald; L Yang; Daniel I Choo; Richard J Wenstrup; Min-Xin Guan
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.
Journal of medical genetics 2004;41(8):615-20.
2004: Qiu-ju Wang; C Y Lu; N Li; Shao-Qi Rao; Yong-Bing Shi; Dong-yi Han; X Li; Ju-yang Cao; L M Yu; Qing-Zhong Li; Min-Xin Guan; Wei-yan Yang; Yan Shen
Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family.
Journal of medical genetics 2004;41(6):e80.
2004: William J Gibbons; Qingfeng Yan; Ronghua Li; Xiaoming Li; Min-Xin Guan
Genomic organization, expression, and subcellular localization of mouse mitochondrial seryl-tRNA synthetase.
Biochemical and biophysical research communications 2004;317(3):774-8.
2004: Min-Xin Guan
Molecular pathogenetic mechanism of maternally inherited deafness.
Annals of the New York Academy of Sciences 2004;1011():259-71.
2004: Qingfeng Yan; Min-Xin Guan
Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
Biochimica et biophysica acta 2004;1676(2):119-26.
2004: Ronghua Li; Guangqian Xing; Ming Yan; Xing Cao; Xue Zhong Liu; Xingkuan Bu; Min-Xin Guan
Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss.
American journal of medical genetics. Part A 2004;124A(2):113-7.
2004: Xiaoming Li; Nathan Fischel-Ghodsian; Faina Schwartz; Qingfeng Yan; Rick A Friedman; Min-Xin Guan
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.
Nucleic acids research 2004;32(3):867-77.
2004: Hui Zhao; Ronghua Li; Qiuju Wang; Qingfeng Yan; Jian-Hong Deng; Dongyi Han; Yidong Bai; Wie-Yen Young; Min-Xin Guan
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.
American journal of human genetics 2004;74(1):139-52.
2003: Xiaoming Li; Min-Xin Guan
Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification.
Biochemical and biophysical research communications 2003;312(3):747-54.
2003: Ronghua Li; Xiaoming Li; Qinfeng Yan; Jun Qin Mo; Min-Xin Guan
Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification.
Biochimica et biophysica acta 2003;1629(1-3):53-9.
2002: Xiaoming Li; Min-Xin Guan
A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation.
Molecular and cellular biology 2002;22(21):7701-11.
2002: Xiaoming Li; Ronghua Li; Xinhua Lin; Min-Xin Guan
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.
The Journal of biological chemistry 2002;277(30):27256-64.