長期從事人類遺傳學與線粒體疾病研究。作為國際線粒體分子遺傳學和母性遺傳病領域知名專家,國際該領域領軍人物之一,已在國內外著名刊物上發表論文100多篇,已在國內外著名刊物上發表論文100多篇,SCI收錄論文80餘篇,累計影響因子300餘分。
耳聾遺傳Guan, M.X., Fischel-Ghodsian,N. and Attardi,G. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.
Hum. Mol. Genet. 5:963-972.
Guan, M.X.,Enriquez,J.A., Fischel-Ghodsian, N., Puranam, R., Lin, C.P., Marion, M.A. and Attardi,G. (1998) The Deafness-associated mtDNA 7445 mutation, which affects tRNAprecursor processing, has long-range effects on NADH dehydrogenase ND6 subunit gene expression.
Mol. Cell. Biol.18:5868-5879.
Guan, M.X,Fischel-Ghodsian, N. and Attardi,G. (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.
Hum. Mol. Genet. 9: 1787-1793.
Guan, M.X.,Fischel-Ghodsian, N. and Attardi,G. (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.
Hum. Mol. Genet.10: 573-580.Li, X., Fischel-Ghodsian,N., Schwartz, F., Yan, Q., Friedman,R.A. and
*Guan,M.X.(2004) Biochemical characterization of the mitochondrial tRNAT7511C mutation associated with nonsyndromic deafness.
Nucleic Acids Res.32: 867-877.Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J.H., Han, D., Bai, Y., Young, W.Y. and
*Guan, M.X. (2004) Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.
Am. J. Hum. Genet.74:139-152.Li, R., Greinwald, J.H., Yang, L., Choo, D.I., Wenstrup, R.J. and
*Guan, M.X.(2004) Molecular analysis of mitochondrial 12S rRNA and tRNAgenes in pediatric subjects with nonsyndromic hearing loss.
J. Med. Genet. 41:615-620.Li, Z., Li, R., Chen, J., Liao, Z.,Zhu,Y., Qian,Y., Xiong,S., Heman-Ackah,S., Wu, J., Choo, D.I., and
*Guan, M.-X.(2005)Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss.
Hum. Genet.117:9-15.Zhao, H., Young, W.Y., Yan, Q., Li, R., Cao, J., Wang, Q., Li, X., Peters, J.L., Han, D., and
*Guan, M.X.(2005) Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss.
Nucleic Acid Res.33:1132-1139.
*Guan, M.X,Yan, Q., Li, X., Bykhovskaya, Y., J. Gallo-Teran, P. Hajek, N. Umeda, H. Zhao, G. Garrido, E. Mengesha, T.Suzuki, I.del Castillo, J.L. Peters, R. Li, Qian, Y., Wang, X., Ballana, E., M. Shohat, Lu, J., X. Estivill,K. Watanabe, & Fischel-Ghodsian, N. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Am. J. Hum. Genet.79:291-302.Qian Y,
*Guan MX.(2009) Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.
Antimicrob Agents Chemother. 53:4612-4618.
Guan, MX.(2011) Mitochondrial 12S rRNA Mutations associated with aminoglycoside ototoxicity.
Mitochondrion11: 237-245.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. (2011)Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAgene. J Med Genet. 48:682-90.Raimundo N, Song, L, Shutt TE, McKay SE, Cotney J,
Guan MX, Gilliland TC, Hohuan, D, Santos-Sacchi S, Shadel GS. (2012) Mitochondrial Stress Engages E2F1Apoptotic Signaling to Cause Deafness. Cell. 148, 716-726.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. (2012)The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.Eur J Hum Genet.20(6):607-12.Zheng J, Ji Y, Guan MX (2012)Mitochondrial tRNA mutations associated with deafness.Mitochondrion. 2012 May;12(3):406-13.
Leber遺傳性視神經病變Qu,J., Li,R., Tong,Y., Zhou,X., Lu,F., Qian,Y., Hu,Y., Mo, J.Q., West, C.E.,
*Guan, M.X.(2006) The novel A4435G mutation in the mitochondrial tRNAmay modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.
Invest. Ophth. Vis. Sci.47:475-83.Qu, J., Zhou, X., Zhang, J., Zhao, F., Sun, Y.H., Yong, Y., Wei, Q.P., Cai, W., West, C.E. and
*Guan, M.X. (2009) Extremely low penetrance of Leber’s hereditary optic neuropathy in eight Han Chinese families carrying the ND4 G11778A mutation.
Ophthalmology16:558-564.Qu J, Wang Y, Tong Y, Zhou X, Zhao F, Yang L, Zhang S, Zhang J, West CE,
*Guan MX.(2010)Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.
Invest Ophthalmol Vis Sci. 51:4906-4912.Liu XL, Zhou T, Zhou J, Zhao F, Zhang J, Li C, Ji Y, Zhang Y, Wei QP
,Sun YH, Yang L, Lin B, Yuan Y, Li Y, Qu J,
*Guan MX.(2011) Leber’s hereditary optic neuropathy is associated with the novel T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.
Ophthalmology118:.978-985.
原發性高血壓Liu, Y., Li, R., Li, Z., Wang, X., Yang, L., Wang, S.,
Guan, M.X.(2009).The mitochondrial tRNA4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.
Hypertension.53:1083-1090.Li, R., Liu, Y., Li, Z., Yang, L., Wang, S.,
Guan, M.X. (2009) Failures in mitochondrial tRNAand tRNAmetabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese family.
Hypertension54:329-337.Wang SW,Li RH, Fettermann A, Li ZB, Qian YP, Liu YQ, Wang XJ, Zhou A, Mo JQ, Yang L, Jiang PP, Taschner A, Rossmanith W,and
GuanMX.. (2011) Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAgene in a large Han Chinese family.
Circ. Res.108:862-70.Lu Z, Chen H, Meng Y, Wang Y, Xue L, Zhi S, Qiu Q, Yang L, Mo JQ,
*Guan MX. (2011) The tRNA4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.Eur J Hum Genet. 19(11):1181-6Qiu Q, Li R, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ, Guan MX. (2012)Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees
.Hum Mutat. 2012 May 1. doi: 10.1002/humu.22109. [Epub ahead of print]
線粒體tRNA鹼基修飾機制Li, X., Li,R., Lin,X. and
*Guan,M.X.(2002) Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation.
J. Biol. Chem.277:27256-27264.Li, X.,
*Guan,M.X.(2002) A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation.
Mol. Cell. Biol.22:7701-7711.Yan, Q., Li, X., Faye, G. and *Guan, M.X. (2005) Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15S rRNA.
J. Biol. Chem. 280: 29151-29157.
Guan, M.X,Yan, Q., Li, X., Bykhovskaya, Y., J. Gallo-Teran, P. Hajek, N. Umeda, H. Zhao, G. Garrido, E. Mengesha, T.Suzuki, I.del Castillo, J.L. Peters, R. Li, Qian, Y., Wang, X., Ballana, E., M. Shohat, Lu, J., X. Estivill,K. Watanabe, & Fischel-Ghodsian, N. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Am. J. Hum. Genet.79:291-302.Wang X, Yan Q,
*Guan MX.(2010) Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNA, tRNA, and tRNAaltered mitochondrial biogenesis and respiration.
J Mol Biol.395:1038-1048.Li R,
*Guan MX. (2010) Human mitochondrial leucyl-tRNA synthetase correctes mitochondrial dysfunctions due to the MELAS and diabetes associated tRNAA3243G mutation.
Mol Cell Biol. 30:2147-54.