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Items: 1 to 20 of 220

1.

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX.

Pharmacogenet Genomics. 2008 Dec;18(12):1059-70. doi: 10.1097/FPC.0b013e3283131661.

2.

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.

Am J Med Genet A. 2008 May 15;146A(10):1248-58. doi: 10.1002/ajmg.a.32285.

PMID:
18386806
3.

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.

J Genet Genomics. 2009 Apr;36(4):241-50. doi: 10.1016/S1673-8527(08)60111-3.

PMID:
19376484
4.

[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.

Yi Chuan. 2008 Oct;30(10):1287-94. Chinese.

PMID:
18930888
5.

Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.

Tang X, Yang L, Zhu Y, Liao Z, Wang J, Qian Y, Tao Z, Hu L, Wu G, Lan J, Wang X, Ji J, Wu J, Ji Y, Feng J, Chen J, Li Z, Zhang X, Lu J, Guan MX.

Gene. 2007 May 15;393(1-2):11-9. Epub 2007 Jan 24.

PMID:
17341440
6.
7.

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.

Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX.

Mitochondrion. 2010 Jan;10(1):69-81. doi: 10.1016/j.mito.2009.09.007. Epub 2009 Oct 8.

8.

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.

Am J Hum Genet. 2006 Aug;79(2):291-302. Epub 2006 Jun 22.

9.

[Mitochondrial tRNA(Thr)T15943C mutation may be a new position that affects the phenotypic expression of deafness associated 12s rRNA A1555G mutation].

Xiao H, He Z, Gao Y, Yang Y, Zheng J, Cai Z, Zheng B, Tang X, Guan M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):163-8. doi: 10.3760/cma.j.issn.1003-9406.2015.02.003. Chinese.

PMID:
25863077
10.

[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].

Peng GH, Zheng BJ, Fang F, Wu Y, Liang LZ, Zheng J, Nan BY, Yu X, Tang XW, Zhu Y, Lu JX, Chen BB, Guan MX.

Yi Chuan. 2013 Jan;35(1):62-72. Chinese.

PMID:
23357266
11.

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss.

Bai Y, Wang Z, Dai W, Li Q, Chen G, Cong N, Guan M, Li H.

BMC Med Genet. 2010 Sep 7;11:129. doi: 10.1186/1471-2350-11-129.

12.

Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations.

Ding Y, Xia BH, Liu Q, Li MY, Huang SX, Zhuo GC.

Gene. 2016 Oct 10;591(1):148-52. doi: 10.1016/j.gene.2016.07.013. Epub 2016 Jul 7.

PMID:
27397648
13.

Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.

Bae JW, Kim DB, Choi JY, Park HJ, Lee JD, Hur DG, Bae SH, Jung DJ, Lee SH, Kim UK, Lee KY.

PLoS One. 2012;7(8):e42463. doi: 10.1371/journal.pone.0042463. Epub 2012 Aug 6.

14.

The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.

Liao Z, Zhao J, Zhu Y, Yang L, Yang A, Sun D, Zhao Z, Wang X, Tao Z, Tang X, Wang J, Guan M, Chen J, Li Z, Lu J, Guan MX.

Biochem Biophys Res Commun. 2007 Oct 26;362(3):670-6. Epub 2007 Aug 15.

15.

[Characterization of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss both carrying a mitochondrial 12S rRNA 1494C>T mutation].

Gong SS, Chen BB, Peng GH, Zheng J, Zhang T, Zheng BJ, Fang F, Zhang CQ, Lv JX, Guan MX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):382-7. doi: 10.3760/cma.j.issn.1003-9406.2012.04.002. Chinese.

PMID:
22875491
16.
17.

[Mitochondrial tRNAIle A4317G mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation].

Liang LZ, Wu Y, Yang YL, Cai Q, Xiao HL, Zheng J, Zheng BJ, Tang XW, Zhu Y, Lu JX, Guan MX.

Yi Chuan. 2013 Jun;35(6):752-60. Chinese.

PMID:
23774020
18.

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.

Young WY, Zhao L, Qian Y, Wang Q, Li N, Greinwald JH Jr, Guan MX.

Biochem Biophys Res Commun. 2005 Mar 25;328(4):1244-51.

PMID:
15708009
19.

Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.

Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX.

Biochem Biophys Res Commun. 2006 Feb 3;340(1):194-9.

PMID:
16375862
20.

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.

Chen J, Yang L, Yang A, Zhu Y, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, Tsushima A, Lan J, Li W, Wu F, Yuan Q, Ji J, Feng J, Wu C, Liao Z, Li Z, Greinwald JH, Lu J, Guan MX.

Gene. 2007 Oct 15;401(1-2):4-11. Epub 2007 Jun 20.

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