Min Xin Guan

Summary

Affiliation: Children's Hospital Medical Center
Country: USA

Publications

  1. 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
  2. ncbi 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
  3. ncbi 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. 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
  5. 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
  6. ncbi The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family
    Ronghua Li
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Gene 376:79-86. 2006
  7. 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
  8. 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
  9. pmc Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
    Hui Zhao
    Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Am J Hum Genet 74:139-52. 2004
  10. pmc Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
    Xiaoming Li
    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, USA
    Nucleic Acids Res 32:867-77. 2004

Collaborators

Detail Information

Publications57

  1. 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...
  2. ncbi 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)...
  3. ncbi 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. 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...
  5. 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...
  6. ncbi The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family
    Ronghua Li
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Gene 376:79-86. 2006
    ..These imply that the tRNA(Thr) A15951G mutation may have a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family...
  7. 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...
  8. 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...
  9. pmc Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
    Hui Zhao
    Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Am J Hum Genet 74:139-52. 2004
    ..These results also strongly suggest that the nuclear background plays a role in the aminoglycoside ototoxicity and in the development of the deafness phenotype associated with the C1494T mutation in the mitochondrial 12S rRNA gene...
  10. pmc Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
    Xiaoming Li
    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, USA
    Nucleic Acids Res 32:867-77. 2004
    ..These observations imply that a combination of the T7511C mutation with two mtDNA mutations accounts for the high penetrance of deafness in this family...
  11. ncbi Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy
    Yaping Qian
    Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Biochem Biophys Res Commun 332:614-21. 2005
    ..Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and expressivity of LHON in these three Chinese families carrying the G11778A mutation...
  12. 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...
  13. ncbi 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...
  14. ncbi Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss
    Ronghua Li
    Division and Program in Human Genetics, Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Am J Med Genet A 124:113-7. 2004
    ..These data imply that the C insertion at position 961 in the 12S rRNA gene, acting as a secondary factor, could play a role in the phenotypic expression of the deafness associated A1555G mutation...
  15. 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...
  16. ncbi 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)...
  17. 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...
  18. ncbi Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids
    Xiaoming Li
    Division and Program in Human Genetics, Center for Hearing and Deafness Research, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Biochem Biophys Res Commun 328:491-8. 2005
    ..These results also imply the influence of nuclear background on the biochemical phenotype associated with the A7445G mutation...
  19. ncbi 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))...
  20. ncbi 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...
  21. ncbi 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...
  22. ncbi 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...
  23. ncbi 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...
  24. 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...
  25. doi 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
    ....
  26. 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...
  27. ncbi 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...
  28. doi 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...
  29. ncbi Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families
    Yi Zhu
    Department of Otolaryngology and Zhejiang Provincial Key Laboratory of Medical Genetics, The First Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Biochem Biophys Res Commun 342:843-50. 2006
    ..Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees...
  30. ncbi Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness
    Pu Dai
    Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 340:194-9. 2006
    ....
  31. 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...
  32. 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...
  33. doi Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese family
    Zongbin Li
    Institute of Geriatric Cardiology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 367:906-11. 2008
    ..Therefore, the combination of the A4295G mutation in the tRNA(Ile) gene with the ND4 G11696A mutation and tRNA(Glu) A14693G mutation may contribute to the high penetrance of hypertension in this Chinese family...
  34. doi The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension
    Yuqi Liu
    Institute of Geriatric Cardiology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 368:18-22. 2008
    ....
  35. doi 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...
  36. pmc Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss
    Huijun Yuan
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Am J Med Genet A 138:133-40. 2005
    ..These data also imply that nuclear background plays a role in the aminoglycoside ototoxicity associated with the A1555G mutation in this Chinese pedigree...
  37. ncbi Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss
    Lidong Zhao
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 336:967-73. 2005
    ..However, aminoglycosides and nuclear backgrounds appear to be major modifier factors for the phenotypic manifestation of the A1555G mutation in these Chinese families...
  38. 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...
  39. ncbi Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation
    Wie yen Young
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 328:1244-51. 2005
    ..However, aminoglycoside appears to be a major modifier factor for the phenotypic manifestation of the A1555G mutation in these Chinese families...
  40. ncbi Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation
    Lidong Zhao
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 325:1503-8. 2004
    ....
  41. ncbi 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...
  42. ncbi The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss
    Qi Ping Wei
    Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078, China
    Biochem Biophys Res Commun 357:910-6. 2007
    ..However, the incomplete penetrance of vision and hearing loss suggests the involvement of nuclear modifier genes and environmental factors in the phenotypic expression of these mtDNA mutations...
  43. ncbi The effect of the mtDNA4834 deletion on hearing
    Wei Jia Kong
    Department of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong Science and Technology University, Jiefang Avenue 1277, Wuhan, China
    Biochem Biophys Res Commun 344:425-30. 2006
    ..Moreover, those suggest that mtDNA4834 deletion can not directly induce the hearing loss, but acting as a predisposing factor which can greatly enhance the sensitivity of the inner ear to the aminoglycoside antibiotic...
  44. ncbi The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation
    Jia Qu
    School of Ophthalmology and Optometry, Wenzhou Medical College, Zhejiang, China
    Invest Ophthalmol Vis Sci 47:475-83. 2006
    ..To investigating the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families...
  45. ncbi Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation
    Qiuju Wang
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 340:583-8. 2006
    ..Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family...
  46. ncbi Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families
    Pu Dai
    Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 348:200-5. 2006
    ..However, the history of exposure to aminoglycosides in these three hearing-impaired subjects suggested that the aminoglycosides very likely are the cause of hearing loss...
  47. ncbi Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
    Wie yen Young
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Am J Med Genet A 140:2188-97. 2006
    ..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...
  48. ncbi Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss
    Huijun Yuan
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 362:94-100. 2007
    ..However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families...
  49. ncbi The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss
    Dongyi Han
    Department and Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 357:554-60. 2007
    ..Therefore, this mtDNA mutation may influence the phenotypic manifestation of the 12S rRNA C1494T mutation in this Chinese pedigree...
  50. ncbi The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy
    Yi Tong
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003, China
    Biochem Biophys Res Commun 357:524-30. 2007
    ..Therefore, the tRNA(Glu) A14693G mutation may have a potential modifier role in the phenotypic manifestation of the primary LHON-associated G3460A mutation in this Chinese family...
  51. ncbi 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...
  52. ncbi Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families
    Xiangtian Zhou
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003, China
    Biochem Biophys Res Commun 340:69-75. 2006
    ..Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees...
  53. ncbi Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
    Yan Hong Sun
    Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, China
    Biochem Biophys Res Commun 347:221-5. 2006
    ....
  54. ncbi Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation
    Jia Qu
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003, China
    Biochem Biophys Res Commun 328:1139-45. 2005
    ..Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and phenotypic variability of LHON in this Chinese family carrying the G11778A mutation...
  55. pmc Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation
    Qiuju Wang
    Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Am J Med Genet A 133:27-30. 2005
    ..These data suggest that the T1095C mutation may be associated with auditory neuropathy in this subject, and two novel variants I175V and V112M may play a role in the phenotypic expression of the T1095C mutation...
  56. ncbi Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family
    Jianxin Lu
    Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003, China
    Biochem Biophys Res Commun 348:115-9. 2006
    ..Thus, the A3243G mutation is the sole pathogenic mtDNA mutation associated with diabetes in this Chinese family...
  57. pmc Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family
    Jia Qu
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003, China
    Mitochondrion 7:140-6. 2007
    ..These imply that the G11696A mutation may act in synergy with the primary LHON-associated G11778A mutation in this Chinese pedigree...