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Items: 1 to 20 of 234

1.

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.

Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX.

J Med Genet. 2011 Oct;48(10):682-90. doi: 10.1136/jmedgenet-2011-100219.

PMID:
21931169
2.

Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees.

Qiu Q, Li R, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ, Guan MX.

Hum Mutat. 2012 Aug;33(8):1285-93. doi: 10.1002/humu.22109. Epub 2012 May 30.

PMID:
22549939
3.

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.

Yuan H, Chen J, Liu X, Cheng J, Wang X, Yang L, Yang S, Cao J, Kang D, Dai P, Zhai S, Han D, Young WY, Guan MX.

Biochem Biophys Res Commun. 2007 Oct 12;362(1):94-100. Epub 2007 Aug 8.

PMID:
17698030
4.

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.

Han D, Dai P, Zhu Q, Liu X, Huang D, Yuan Y, Yuan H, Wang X, Qian Y, Young WY, Guan MX.

Biochem Biophys Res Commun. 2007 Jun 1;357(2):554-60. Epub 2007 Apr 9.

PMID:
17434445
5.

Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family.

Lu J, Wang D, Li R, Li W, Ji J, Zhao J, Ye W, Yang L, Qian Y, Zhu Y, Guan MX.

Biochem Biophys Res Commun. 2006 Sep 15;348(1):115-9. Epub 2006 Jul 13.

PMID:
16876129
6.

Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.

Zhou X, Qian Y, Zhang J, Tong Y, Jiang P, Liang M, Dai X, Zhou H, Zhao F, Ji Y, Mo JQ, Qu J, Guan MX.

Invest Ophthalmol Vis Sci. 2012 Jul 9;53(8):4586-94. doi: 10.1167/iovs.11-9109.

7.

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.

Wang Q, Li QZ, Han D, Zhao Y, Zhao L, Qian Y, Yuan H, Li R, Zhai S, Young WY, Guan MX.

Biochem Biophys Res Commun. 2006 Feb 10;340(2):583-8. Epub 2005 Dec 19.

PMID:
16380089
8.

Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene.

Liu H, Li R, Li W, Wang M, Ji J, Zheng J, Mao Z, Mo JQ, Jiang P, Lu J, Guan MX.

Mitochondrion. 2015 Mar;21:49-57. doi: 10.1016/j.mito.2015.01.004. Epub 2015 Jan 20.

PMID:
25615420
9.
10.
11.

Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.

Li R, Liu Y, Li Z, Yang L, Wang S, Guan MX.

Hypertension. 2009 Aug;54(2):329-37. doi: 10.1161/HYPERTENSIONAHA.109.129270. Epub 2009 Jun 22.

12.

Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

Jin L, Yang A, Zhu Y, Zhao J, Wang X, Yang L, Sun D, Tao Z, Tsushima A, Wu G, Xu L, Chen C, Yi B, Cai J, Tang X, Wang J, Li D, Yuan Q, Liao Z, Chen J, Li Z, Lu J, Guan MX.

Biochem Biophys Res Commun. 2007 Sep 14;361(1):133-9. Epub 2007 Jul 10.

PMID:
17659260
13.

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

Tang X, Li R, Zheng J, Cai Q, Zhang T, Gong S, Zheng W, He X, Zhu Y, Xue L, Yang A, Yang L, Lu J, Guan MX.

Mol Genet Metab. 2010 May;100(1):57-64. doi: 10.1016/j.ymgme.2010.01.008. Epub 2010 Jan 25.

PMID:
20153673
14.

Mitochondrial tRNA mutations associated with deafness.

Zheng J, Ji Y, Guan MX.

Mitochondrion. 2012 May;12(3):406-13. doi: 10.1016/j.mito.2012.04.001. Epub 2012 Apr 16.

PMID:
22538251
15.

Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.

Wei Q, Xu D, Chen Z, Li H, Lu Y, Liu C, Bu X, Xing G, Cao X.

Int J Audiol. 2013 Feb;52(2):98-103. doi: 10.3109/14992027.2012.743046. Epub 2012 Dec 13.

PMID:
23237192
16.

[Hearing loss may be associated with the novel mitochondrial tRNA(Asp) A7551G mutation in a Chinese family].

Wu Y, Liang LZ, Xiao HL, Yang YL, Yu X, Zheng J, Fang F, Zheng BJ, Tang XW, Jin LJ, Guan MX.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Dec;48(12):978-84. Chinese.

PMID:
24506995
17.

Coronary heart disease is associated with a mutation in mitochondrial tRNA.

Jia Z, Wang X, Qin Y, Xue L, Jiang P, Meng Y, Shi S, Wang Y, Qin Mo J, Guan MX.

Hum Mol Genet. 2013 Oct 15;22(20):4064-73. doi: 10.1093/hmg/ddt256. Epub 2013 Jun 4.

18.

[Audiological findings and mitochondrial DNA mutation in a large family with matrilineal sensorineural hearing loss].

Xing G, Bu X, Yan M, Lu L, Yang S.

Zhonghua Er Bi Yan Hou Ke Za Zhi. 2000 Apr;35(2):98-101. Chinese.

PMID:
12768662
19.

Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene.

Chen X, Nie Z, Wang F, Wang J, Liu XW, Zheng J, Guo YF, Guan MX.

Mitochondrion. 2017 Jul;35:111-118. doi: 10.1016/j.mito.2017.05.013. Epub 2017 Jun 1.

PMID:
28579530
20.

Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families.

Zhu Y, Qian Y, Tang X, Wang J, Yang L, Liao Z, Li R, Ji J, Li Z, Chen J, Choo DI, Lu J, Guan MX.

Biochem Biophys Res Commun. 2006 Apr 14;342(3):843-50. Epub 2006 Feb 17.

PMID:
16500624

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