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Results: 1 to 20 of 92

1.

Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness.

Raimundo N, Song L, Shutt TE, McKay SE, Cotney J, Guan MX, Gilliland TC, Hohuan D, Santos-Sacchi J, Shadel GS.

Cell. 2012 Feb 17;148(4):716-26. doi: 10.1016/j.cell.2011.12.027.

PMID:
22341444
[PubMed - indexed for MEDLINE]
Free PMC Article
2.
3.

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N.

Mol Genet Metab. 2004 Nov;83(3):199-206.

PMID:
15542390
[PubMed - indexed for MEDLINE]
4.
5.

Transcription-independent role for human mitochondrial RNA polymerase in mitochondrial ribosome biogenesis.

Surovtseva YV, Shadel GS.

Nucleic Acids Res. 2013 Feb 1;41(4):2479-88. doi: 10.1093/nar/gks1447. Epub 2013 Jan 8.

PMID:
23303773
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
16826519
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

[Mutation analysis of mitochondrial 12S rRNA gene G709A in a maternally inherited pedigree with non-syndromic deafness].

Wei Q, Lu Y, Zhang Y, Chen Z, Xing G, Cao X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):610-4. doi: 10.3760/cma.j.issn.1003-9406.2009.06.002. Chinese.

PMID:
19953480
[PubMed - indexed for MEDLINE]
9.

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.

Guan MX, Fischel-Ghodsian N, Attardi G.

Hum Mol Genet. 1996 Jul;5(7):963-71.

PMID:
8817331
[PubMed - indexed for MEDLINE]
Free Article
10.

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.

PMID:
18820594
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Acute loss of transcription factor E2F1 induces mitochondrial biogenesis in HeLa cells.

Goto Y, Hayashi R, Kang D, Yoshida K.

J Cell Physiol. 2006 Dec;209(3):923-34.

PMID:
16972274
[PubMed - indexed for MEDLINE]
12.

Mitochondrial transcription factor A overexpression and base excision repair deficiency in the inner ear of rats with D-galactose-induced aging.

Zhong Y, Hu YJ, Chen B, Peng W, Sun Y, Yang Y, Zhao XY, Fan GR, Huang X, Kong WJ.

FEBS J. 2011 Jul;278(14):2500-10. doi: 10.1111/j.1742-4658.2011.08176.x. Epub 2011 Jun 5.

PMID:
21575134
[PubMed - indexed for MEDLINE]
13.

[Modifier factors influencing the phenotypic manifestation of the deafness associated mitochondrial DNA mutations].

YANG AF, ZHENG J, LV JX, GUAN MX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):165-71. doi: 10.3760/cma.j.issn.1003-9406.2011.02.010. Review. Chinese.

PMID:
21462128
[PubMed - indexed for MEDLINE]
14.

[Mitochondrial DNA G7444A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation].

Yang AF, Zhu Y, Lu JX, Yang L, Zhao JY, Sun DM.

Yi Chuan. 2008 Jun;30(6):728-34. Chinese.

PMID:
18550495
[PubMed - indexed for MEDLINE]
15.

Overexpression of TFAM, NRF-1 and myr-AKT protects the MPP(+)-induced mitochondrial dysfunctions in neuronal cells.

Piao Y, Kim HG, Oh MS, Pak YK.

Biochim Biophys Acta. 2012 May;1820(5):577-85. doi: 10.1016/j.bbagen.2011.08.007. Epub 2011 Aug 11.

PMID:
21856379
[PubMed - indexed for MEDLINE]
Free Article
16.

[Nuclear gene involves in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation].

Zhao SY, Zhang HJ, Xu CH, Shan XN.

Fen Zi Xi Bao Sheng Wu Xue Bao. 2006 Feb;39(1):39-45. Chinese.

PMID:
16944570
[PubMed - indexed for MEDLINE]
17.

Discrimination of A1555G and C1494T point mutations in the mitochondrial 12S rRNA gene by on/off switch.

Guo ZF, Guo WS, Xiao L, Gao GQ, Lan F, Lu XG, Li K, Liao DF.

Appl Biochem Biotechnol. 2012 Jan;166(1):234-42. doi: 10.1007/s12010-011-9419-4. Epub 2011 Nov 10.

PMID:
22068689
[PubMed - indexed for MEDLINE]
18.

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.

Eur J Hum Genet. 2012 Jun;20(6):607-12. doi: 10.1038/ejhg.2011.259. Epub 2012 Feb 8.

PMID:
22317974
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
19818876
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N.

Mol Genet Metab. 2004 May;82(1):27-32.

PMID:
15110318
[PubMed - indexed for MEDLINE]

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