Guan MX - Search Results

1

The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.

Lu Z, Chen H, Meng Y, Wang Y, Xue L, Zhi S, Qiu Q, Yang L, Mo JQ, Guan MX. Lu Z, et al. Among authors: guan mx. Eur J Hum Genet. 2011 Nov;19(11):1181-6. doi: 10.1038/ejhg.2011.111. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694735 Free PMC article.

2

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.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Zhao H, et al. Among authors: guan mx. Am J Hum Genet. 2004 Jan;74(1):139-52. doi: 10.1086/381133. Epub 2003 Dec 12. Am J Hum Genet. 2004. PMID: 14681830 Free PMC article.

3

Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH Jr, Young WY, Guan MX. Wang Q, et al. Among authors: guan mx. Am J Med Genet A. 2005 Feb 15;133A(1):27-30. doi: 10.1002/ajmg.a.30424. Am J Med Genet A. 2005. PMID: 15637703 Free PMC article.

4

Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.

Li R, Ishikawa K, Deng JH, Heman-Ackah S, Tamagawa Y, Yang L, Bai Y, Ichimura K, Guan MX. Li R, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2005 Mar 4;328(1):32-7. doi: 10.1016/j.bbrc.2004.12.140. Biochem Biophys Res Commun. 2005. PMID: 15670746

5

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.

Qu J, Li R, Tong Y, Hu Y, Zhou X, Qian Y, Lu F, Guan MX. Qu J, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2005 Mar 25;328(4):1139-45. doi: 10.1016/j.bbrc.2005.01.062. Biochem Biophys Res Commun. 2005. PMID: 15707996 Clinical Trial.

6

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

Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX. Li Z, et al. Among authors: guan mx. Hum Genet. 2005 Jun;117(1):9-15. doi: 10.1007/s00439-005-1276-1. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841390 Free PMC article.

7

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.

Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX. Qian Y, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2005 Jul 1;332(2):614-21. doi: 10.1016/j.bbrc.2005.05.003. Biochem Biophys Res Commun. 2005. PMID: 15896721

8

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.

Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young WY, Guan MX. Yuan H, et al. Among authors: guan mx. Am J Med Genet A. 2005 Oct 1;138A(2):133-40. doi: 10.1002/ajmg.a.30952. Am J Med Genet A. 2005. PMID: 16152638 Free PMC article.

9

Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.

Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, Sun Y, Lu F, Qu J, Guan MX. Zhou X, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2006 Feb 3;340(1):69-75. doi: 10.1016/j.bbrc.2005.11.150. Epub 2005 Dec 6. Biochem Biophys Res Commun. 2006. PMID: 16364244 Clinical Trial.

10

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.

Qu J, Li R, Zhou X, Tong Y, Lu F, Qian Y, Hu Y, Mo JQ, West CE, Guan MX. Qu J, et al. Among authors: guan mx. Invest Ophthalmol Vis Sci. 2006 Feb;47(2):475-83. doi: 10.1167/iovs.05-0665. Invest Ophthalmol Vis Sci. 2006. PMID: 16431939

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