Lu J - Search Results

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. Yan X, et al. Among authors: lu j. J Med Genet. 2011 Oct;48(10):682-90. doi: 10.1136/jmedgenet-2011-100219. J Med Genet. 2011. PMID: 21931169

2

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. Zhu Y, et al. Among authors: lu j. Biochem Biophys Res Commun. 2006 Apr 14;342(3):843-50. doi: 10.1016/j.bbrc.2006.02.027. Epub 2006 Feb 17. Biochem Biophys Res Commun. 2006. PMID: 16500624

3

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. Lu J, et al. Biochem Biophys Res Commun. 2006 Sep 15;348(1):115-9. doi: 10.1016/j.bbrc.2006.07.010. Epub 2006 Jul 13. Biochem Biophys Res Commun. 2006. PMID: 16876129

4

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.

Chen B, Sun D, Yang L, Zhang C, Yang A, Zhu Y, Zhao J, Chen Y, Guan M, Wang X, Li R, Tang X, Wang J, Tao Z, Lu J, Guan MX. Chen B, et al. Among authors: lu j. Am J Med Genet A. 2008 May 15;146A(10):1248-58. doi: 10.1002/ajmg.a.32285. Am J Med Genet A. 2008. PMID: 18386806

5

Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.

Ding Y, Li Y, You J, Yang L, Chen B, Lu J, Guan MX. Ding Y, et al. Among authors: lu j. J Genet Genomics. 2009 Apr;36(4):241-50. doi: 10.1016/S1673-8527(08)60111-3. J Genet Genomics. 2009. PMID: 19376484

6

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. Tang X, et al. Among authors: lu j. Mol Genet Metab. 2010 May;100(1):57-64. doi: 10.1016/j.ymgme.2010.01.008. Epub 2010 Jan 25. Mol Genet Metab. 2010. PMID: 20153673

7

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.

Chen H, Zheng J, Xue L, Meng Y, Wang Y, Zheng B, Fang F, Shi S, Qiu Q, Jiang P, Lu Z, Mo JQ, Lu J, Guan MX. Chen H, et al. Among authors: lu z, lu j. Eur J Hum Genet. 2012 Jun;20(6):607-12. doi: 10.1038/ejhg.2011.259. Epub 2012 Feb 8. Eur J Hum Genet. 2012. PMID: 22317974 Free PMC article.

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. Liu H, et al. Among authors: lu j. Mitochondrion. 2015 Mar;21:49-57. doi: 10.1016/j.mito.2015.01.004. Epub 2015 Jan 20. Mitochondrion. 2015. PMID: 25615420

9

[Mitochondrial tRNAThr G15927A mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation.].

Tang XW, Li ZY, Lu JX, Zhu Y, Li RH, Wang JD, Guan MX. Tang XW, et al. Yi Chuan. 2008 Oct;30(10):1287-94. doi: 10.3724/sp.j.1005.2008.01287. Yi Chuan. 2008. PMID: 18930888 Chinese.

10

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Guan MX, et al. Among authors: lu j. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.

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