Research Topics
Genomes and Genes | Min Xin GuanSummaryAffiliation: Cincinnati Children's Hospital Medical Center Country: USA Publications
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Publications
Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinicsZhisen Shen
Department of Otolaryngology, Ningbo Medical Center, Li Huili Hospital, Ningbo, Zhejiang, China
J Transl Med 9:4. 2011..Mitochondrial 12S rRNA mutations are one of the important causes of aminoglycoside ototoxicity. However, the incidences of 12S rRNA mutations associated with aminoglycoside ototoxicity are less known...
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicityMin Xin Guan
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
Mitochondrion 11:237-45. 2011....
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutationXiaoming Li
Division of Human Genetics, Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
J Biol Chem 277:27256-64. 2002..These observations suggest that human MTO1 is a structural and functional homolog of yeast MTO1. Thus, it may play an important role in the pathogenesis of deafness-associated A1555G mutation in 12 S rRNA gene or mutations in tRNA genes...- Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutationXiaowen Tang
Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
Gene 393:11-9. 2007..However, aminoglycosides appear to be a major modifier factor for the phenotypic manifestation of the A1555G mutation in these Chinese families... - 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 pedigreesBobei Chen
Department of Otolaryngology, The Second Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
Am J Med Genet A 146:1248-58. 2008..Therefore, these mtDNA mutations may have a potential modifier role in increasing the penetrance and expressivity of the deafness-associated 12S rRNA A1555G mutation in those Chinese pedigrees... - A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutationXiaoming Li
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
Mol Cell Biol 22:7701-11. 2002..These observations suggest that the human GTPBP3 is a structural and functional homolog of yeast MSS1. Thus, allelic variants in GTPBP3 could, if they exist, modulate the phenotypic manifestation of human mitochondrial A1555G mutation... - Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutationJianxin Lu
Zhejiang Provincial Key Laboratory of Medical Genetics and Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
Mitochondrion 10:69-81. 2010..These observations suggested that mitochondrial haplotypes modulate the variable penetrance and expressivity of deafness among these Chinese families... - Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing lossJianxin Lu
Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
Mitochondrion 10:380-90. 2010..Therefore, our data demonstrated that mitochondrial 12S rRNA is the hot spot for mutations associated with aminoglycoside ototoxicity... - Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese familiesJia Qu
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
Invest Ophthalmol Vis Sci 51:4906-12. 2010..The purpose of this study was to investigate the role of modifier factors in the expression of Leber's hereditary optic neuropathy (LHON)... - Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigreesJianfu Chen
Department of Otolaryngology, The First Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
Gene 401:4-11. 2007..However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families... - Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese familyXiaowen Tang
Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
Mol Genet Metab 100:57-64. 2010..However, other genetic, epigenetic or environmental factors may contribute to the phenotypic variability of this family. Our findings will be helpful for counseling families of maternally inherited hearing loss... - Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese familiesXiao Ling Liu
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
Ophthalmology 118:978-85. 2011..To investigate the molecular pathogenesis of Leber's hereditary optic neuropathy (LHON) in Chinese families... - Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respirationXinjian Wang
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
J Mol Biol 395:1038-48. 2010..Therefore, our findings demonstrated a critical role of modifications at U(34) of tRNA(Lys), tRNA(Glu), and tRNA(Gln) in maintenance of mitochondrial genome, mitochondrial RNA stability, translation, and respiratory function... - Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNAQingfeng Yan
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
J Biol Chem 280:29151-7. 2005..These functional conservations imply that human MTO2 may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA... - Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing lossLongjin Jin
Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
Biochem Biophys Res Commun 361:133-9. 2007..These observations provide an additional evidence for the early diction and prevention of deafness at the high risk populations carrying these mitochondrial DNA mutations... - Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutationXiangtian Zhou
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
Mol Genet Metab 100:379-84. 2010..Therefore, nuclear modifier gene(s) may be responsible for very high penetrance and occurrence of optic neuropathy in this Chinese pedigree... - Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutationYi Tong
School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
Mol Genet Metab 99:417-24. 2010..However, nuclear modifier genes, epigenetic and environmental factors appear to be modifier factors for the phenotypic manifestation of the G3640A mutation in these Chinese families... - Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiaeXinjian Wang
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, ML 7016, Cincinnati, Ohio 45229, USA
Mitochondrion 9:180-5. 2009..Consequently, the deletion of MTO1 gene acts in synergy with the 15S rRNA C1409G mutation, leading to the loss of COX1 synthesis and subsequent respiratory deficient phenotype... - Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing lossZhiyuan Li
Department of Otolaryngology, The First Affiliated Hospital and Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, China
Hum Genet 117:9-15. 2005..These data strongly suggest that the mitochondrial 12S rRNA is a hot-spot for deafness-associated mutations in the Chinese population... - Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutationsQingfeng Yan
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Biochem Biophys Res Commun 342:1130-6. 2006..These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations... - Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsMin Xin Guan
Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
Am J Hum Genet 79:291-302. 2006..These findings indicate that the mutated TRMU, acting as a modifier factor, modulates the phenotypic manifestation of the deafness-associated 12S rRNA mutations... - Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing lossJing Chen
Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China
Mitochondrion 8:285-92. 2008.... - Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutationJia Qu
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
Ophthalmology 116:558-564.e3. 2009..To investigate the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families... - Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese familyShiwen Wang
Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang, China
Circ Res 108:862-70. 2011..Despite maternal transmission of hypertension in some pedigrees, pathophysiology of maternally inherited hypertension remains poorly understood... - Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutationFuxin Zhao
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
Biochem Biophys Res Commun 389:466-72. 2009..Furthermore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic manifestation of the LHON-associated T14502C mutation in these Chinese families... - Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetesRonghua Li
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
Mol Cell Biol 30:2147-54. 2010..These findings provide new insights into the molecular mechanism of maternally inherited diseases and a step toward therapeutic interventions for these disorders... - Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing lossHui Zhao
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
Nucleic Acids Res 33:1132-9. 2005..In addition, these data provide the first biochemical evidence that nuclear background plays a critical role in the phenotypic manifestation of non-syndromic hearing loss and aminoglycoside toxicity associated with the C1494T mutation... - Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese familyRonghua Li
Division and Program in Human Genetics, and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Biochem Biophys Res Commun 328:32-7. 2005..Thus, the phenotypic variability in this family is due to the involvement of other modifier factor(s)... - Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese familiesJuanjuan Zhang
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
Biochem Biophys Res Commun 399:647-53. 2010..These data suggested that the T14502C variant may modulate the phenotypic manifestation of the G11778A mutation in these Chinese pedigrees... - Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modificationXiaoming Li
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Biochem Biophys Res Commun 312:747-54. 2003..Thus, it may modulate the translational efficiency and accuracy of codon-anticodon base pairings on the decoding region of mitochondrial ribosomes... - Genomic organization, expression, and subcellular localization of mouse mitochondrial seryl-tRNA synthetaseWilliam J Gibbons
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Biochem Biophys Res Commun 317:774-8. 2004..Thus, it may play a role in the fidelity in mitochondrial translation and pathogenesis of deafness-associated mutations in the mitochondrial tRNA(Ser(UCN))... - Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modificationRonghua Li
Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Biochim Biophys Acta 1629:53-9. 2003..These observations suggest that the mouse MTO1 is a structural and functional homolog of yeast MTO1, thereby playing a role in the mitochondrial tRNA modification and protein synthesis... - Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferaseQingfeng Yan
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Biochim Biophys Acta 1676:119-26. 2004..These observations suggest that the mouse TRMU is a structural and functional homolog of bacterial TrmU, thereby playing a role in the mt tRNA modification and protein synthesis... - Molecular pathogenetic mechanism of maternally inherited deafnessMin Xin Guan
Cincinnati Children s Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
Ann N Y Acad Sci 1011:259-71. 2004..Phenotypic expression of these mtDNA mutations requires the contribution of other factors such as nuclear modifier gene(s), environmental factor(s), or mitochondrial haplotype(s)... - The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigreeZhongqiu Lu
Emergercy Medical Department, The First Affiliated Hospital of Wenzhou Medical College, Zhejiang, China
Eur J Hum Genet 19:1181-6. 2011..Our findings will be helpful for counseling families of maternally inherited hypertension... - Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutationYaping Qian
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229 3039, USA
Antimicrob Agents Chemother 53:4612-8. 2009..The interaction between aminoglycosides and 12S rRNA carrying the A1555G mutation provides new insight into the pathogenesis of aminoglycoside ototoxicity... - The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese familyZhisu Liao
Department of Otolaryngology, The First Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
Biochem Biophys Res Commun 362:670-6. 2007..Thus, the G11696A mutation may act in synergy with the primary deafness-associated 12S rRNA A1555G mutation in this Chinese family, thereby increasing the penetrance and expressivity of hearing loss in this Chinese pedigree... - Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese FamilyRonghua Li
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229 3039, USA
Hypertension 54:329-37. 2009..These data suggest that mitochondrial dysfunctions, caused by the 4401A>G mutation, are involved in the development of hypertension in this Chinese pedigree... - Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutationMin Liang
Wenzhou Medical College, Zhejiang, China
Biochem Biophys Res Commun 383:286-92. 2009..Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated T3394C mutation... - Cloning and characterization of mouse mTERF encoding a mitochondrial transcriptional termination factorXiaoming Li
Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, USA
Biochem Biophys Res Commun 326:505-10. 2005..These observations suggest that the mouse mTERF is an evolutionarily conserved mitochondrial transcription termination factor, thereby promoting the termination of transcription in mitochondrial RNA... - Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiaeXinjian Wang
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
FEBS Lett 581:4228-34. 2007..These data strongly indicate that unmodified tRNA caused by the deletion of MTO2 caused the instability of mitochondrial tRNAs and mRNAs and impairment of aminoacylation of tRNAs... - 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 mutationYaping Qian
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
Mitochondrion 11:871-7. 2011..Thus, our findings may provide new insights into the pathophysiology of LHON... - Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese familiesXinjian Wang
Division of Human Genetics, Cincinnati Children s Hospital Medical Center Cincinnati, Ohio 45229 3039, USA
Pharmacogenet Genomics 18:1059-70. 2008..To investigate the role of mitochondrial modifiers in the development of deafness associated with 12S rRNA A1555G mutation...
Research Grants
- Nuclear modifier genes for maternally inherited deafnessMin Xin Guan; Fiscal Year: 2009..In addition, the success of this research will contribute significantly to the development of animal models for therapeutic interventions. ..
- Molecular Mechanism of Aminoglycoside OtotoxicityMin Xin Guan; Fiscal Year: 2006..The ultimate goal of this study is to develop the aminoglycoside analogs with less toxicity and to provide aminoglycoside treatment strategies that prevent irreversible cochlear damage. ..
- Genetic Correction of Maternally Inherited DiseasesMin Xin Guan; Fiscal Year: 2004..In the long term, fundamental experimental approaches and knowledge, which results from this proposed work would be applicable to many other tRNA gene mutations, associated diseases in humans. ..
- Biochemical Basis of Maternally Inherited DeafnessMin Xin Guan; Fiscal Year: 2003..of this project will enhance the understanding of pathogenic mechanisms of maternally inherited deafness, lead to the future therapies directed toward specific underlying abnormalities, and the development of animal models to test ..
- Nuclear modifier genes for maternally inherited deafnessMin Xin Guan; Fiscal Year: 2010..In addition, the success of this research will contribute significantly to the development of animal models for therapeutic interventions. ..