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Items: 1 to 20 of 163

1.

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.

Qian Y, Zhou X, Liang M, Qu J, Guan MX.

Mitochondrion. 2011 Nov;11(6):871-7. doi: 10.1016/j.mito.2011.06.006. Epub 2011 Jul 1.

PMID:
21742061
2.

Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

Zhou X, Zhang H, Zhao F, Ji Y, Tong Y, Zhang J, Zhang Y, Yang L, Qian Y, Lu F, Qu J, Guan MX.

Mol Genet Metab. 2010 Aug;100(4):379-84. doi: 10.1016/j.ymgme.2010.04.013. Epub 2010 Apr 29.

3.

Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.

Qu J, Zhou X, Zhang J, Zhao F, Sun YH, Tong Y, Wei QP, Cai W, Yang L, West CE, Guan MX.

Ophthalmology. 2009 Mar;116(3):558-564.e3. doi: 10.1016/j.ophtha.2008.10.022. Epub 2009 Jan 22.

4.

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.

Zhang J, Zhou X, Zhou J, Li C, Zhao F, Wang Y, Meng Y, Wang J, Yuan M, Cai W, Tong Y, Sun YH, Yang L, Qu J, Guan MX.

Biochem Biophys Res Commun. 2010 Sep 3;399(4):647-53. doi: 10.1016/j.bbrc.2010.07.135. Epub 2010 Aug 4.

PMID:
20691156
5.

Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.

Cai W, Fu Q, Zhou X, Qu J, Tong Y, Guan MX.

J Genet Genomics. 2008 Nov;35(11):649-55. doi: 10.1016/S1673-8527(08)60086-7.

PMID:
19022198
6.

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.

Invest Ophthalmol Vis Sci. 2006 Feb;47(2):475-83.

PMID:
16431939
7.

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.

8.

Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation.

Zhang M, Zhou X, Li C, Zhao F, Zhang J, Yuan M, Sun YH, Wang J, Tong Y, Liang M, Yang L, Cai W, Wang L, Qu J, Guan MX.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):192-9. doi: 10.1016/j.ymgme.2010.07.014. Epub 2010 Aug 3.

PMID:
20728388
9.

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.

Biochem Biophys Res Commun. 2005 Mar 25;328(4):1139-45.

PMID:
15707996
10.

The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.

Li R, Qu J, Zhou X, Tong Y, Hu Y, Qian Y, Lu F, Mo JQ, West CE, Guan MX.

Gene. 2006 Jul 5;376(1):79-86. Epub 2006 Apr 19.

PMID:
16624503
11.

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.

Biochem Biophys Res Commun. 2005 Jul 1;332(2):614-21.

PMID:
15896721
12.

Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

Zhang J, Jiang P, Jin X, Liu X, Zhang M, Xie S, Gao M, Zhang S, Sun YH, Zhu J, Ji Y, Wei QP, Tong Y, Guan MX.

Mitochondrion. 2014 Sep;18:18-26. doi: 10.1016/j.mito.2014.08.008. Epub 2014 Sep 4.

PMID:
25194554
13.

Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.

Qu J, Wang Y, Tong Y, Zhou X, Zhao F, Yang L, Zhang S, Zhang J, West CE, Guan MX.

Invest Ophthalmol Vis Sci. 2010 Oct;51(10):4906-12. doi: 10.1167/iovs.09-5027. Epub 2010 Apr 30.

14.

Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy.

Zhang AM, Jia X, Yao YG, Zhang Q.

Biochem Biophys Res Commun. 2008 Nov 7;376(1):221-4. doi: 10.1016/j.bbrc.2008.08.128. Epub 2008 Sep 4.

PMID:
18775412
15.

Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

Tong Y, Sun YH, Zhou X, Zhao F, Mao Y, Wei QP, Yang L, Qu J, Guan MX.

Mol Genet Metab. 2010 Apr;99(4):417-24. doi: 10.1016/j.ymgme.2009.12.004. Epub 2010 Jan 6.

16.

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.

Biochem Biophys Res Commun. 2006 Feb 3;340(1):69-75. Epub 2005 Dec 6.

PMID:
16364244
17.

[Leber's hereditary optic neuropathy is associated with the mitochondrial G11696A mutation in two Chinese families].

Zhao FX, Zhou XT, Qu J, Wei QP, Tong Y, Yang L, Lv JX, Guan MX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Oct;24(5):556-9. Chinese.

PMID:
17922426
18.

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A.

Wang HW, Jia X, Ji Y, Kong QP, Zhang Q, Yao YG, Zhang YP.

Mutat Res. 2008 Aug 25;643(1-2):48-53. doi: 10.1016/j.mrfmmm.2008.06.004. Epub 2008 Jun 21.

PMID:
18619472
19.

Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.

Qu J, Li R, Zhou X, Tong Y, Yang L, Chen J, Zhao F, Lu C, Qian Y, Lu F, Guan MX.

Mitochondrion. 2007 Feb-Apr;7(1-2):140-6. Epub 2006 Dec 8.

20.

The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family.

Yang J, Zhu Y, Tong Y, Zhang Z, Chen L, Chen S, Cao Z, Liu C, Xu J, Ma X.

Mitochondrion. 2009 Jul;9(4):273-8. doi: 10.1016/j.mito.2009.04.003. Epub 2009 Apr 24.

PMID:
19394449
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