Min Xin Guan

Summary

Affiliation: Cincinnati Children's Hospital Medical Center
Country: USA

Publications

  1. pmc Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics
    Zhisen Shen
    Department of Otolaryngology, Ningbo Medical Center, Li Huili Hospital, Ningbo, Zhejiang, China
    J Transl Med 9:4. 2011
  2. doi request reprint Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
    Min Xin Guan
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Mitochondrion 11:237-45. 2011
  3. ncbi request reprint Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation
    Xiaoming 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
  4. ncbi request reprint Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
    Xiaowen Tang
    Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Gene 393:11-9. 2007
  5. doi request reprint 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
    Bobei Chen
    Department of Otolaryngology, The Second Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Am J Med Genet A 146:1248-58. 2008
  6. pmc A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
    Xiaoming 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
  7. pmc Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation
    Jianxin 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
  8. pmc Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss
    Jianxin 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
  9. pmc Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families
    Jia Qu
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Invest Ophthalmol Vis Sci 51:4906-12. 2010
  10. pmc Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees
    Jianfu Chen
    Department of Otolaryngology, The First Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Gene 401:4-11. 2007

Collaborators

Detail Information

Publications43

  1. pmc Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics
    Zhisen 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...
  2. doi request reprint Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
    Min Xin Guan
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Mitochondrion 11:237-45. 2011
    ....
  3. ncbi request reprint Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation
    Xiaoming 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...
  4. ncbi request reprint Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
    Xiaowen 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...
  5. doi request reprint 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
    Bobei 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...
  6. pmc A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
    Xiaoming 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...
  7. pmc Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation
    Jianxin 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...
  8. pmc Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss
    Jianxin 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...
  9. pmc Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families
    Jia 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)...
  10. pmc Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees
    Jianfu 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...
  11. doi request reprint Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family
    Xiaowen 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...
  12. doi request reprint Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families
    Xiao 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...
  13. pmc Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration
    Xinjian 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...
  14. pmc 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 rRNA
    Qingfeng 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...
  15. ncbi request reprint Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss
    Longjin 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...
  16. pmc Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
    Xiangtian 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...
  17. pmc Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation
    Yi 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...
  18. pmc Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae
    Xinjian 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...
  19. pmc Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
    Zhiyuan 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...
  20. ncbi request reprint 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 mutations
    Qingfeng 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...
  21. pmc Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
    Min 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...
  22. doi request reprint Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss
    Jing Chen
    Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Mitochondrion 8:285-92. 2008
    ....
  23. pmc Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation
    Jia 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...
  24. doi request reprint Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family
    Shiwen 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...
  25. pmc Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation
    Fuxin 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...
  26. pmc 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 diabetes
    Ronghua 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...
  27. pmc Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss
    Hui 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...
  28. ncbi request reprint Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family
    Ronghua 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)...
  29. doi request reprint Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families
    Juanjuan 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...
  30. ncbi request reprint Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification
    Xiaoming 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...
  31. ncbi request reprint Genomic organization, expression, and subcellular localization of mouse mitochondrial seryl-tRNA synthetase
    William 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))...
  32. ncbi request reprint Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification
    Ronghua 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...
  33. ncbi request reprint Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase
    Qingfeng 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...
  34. ncbi request reprint Molecular pathogenetic mechanism of maternally inherited deafness
    Min 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)...
  35. pmc The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree
    Zhongqiu 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...
  36. pmc Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation
    Yaping 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...
  37. pmc The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family
    Zhisu 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...
  38. pmc Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family
    Ronghua 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...
  39. pmc Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation
    Min 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...
  40. ncbi request reprint Cloning and characterization of mouse mTERF encoding a mitochondrial transcriptional termination factor
    Xiaoming 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...
  41. ncbi request reprint Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae
    Xinjian 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...
  42. doi request reprint 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 mutation
    Yaping 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...
  43. pmc Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families
    Xinjian 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 Grants15

  1. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2009
    ..In addition, the success of this research will contribute significantly to the development of animal models for therapeutic interventions. ..
  2. Molecular Mechanism of Aminoglycoside Ototoxicity
    Min 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. ..
  3. Genetic Correction of Maternally Inherited Diseases
    Min 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. ..
  4. Biochemical Basis of Maternally Inherited Deafness
    Min 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 ..
  5. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2010
    ..In addition, the success of this research will contribute significantly to the development of animal models for therapeutic interventions. ..