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Genomes and Genes | Min Xin GuanSummaryAffiliation: Children's Hospital Medical Center Country: USA Publications
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Publications
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...
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)...- 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... - 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... - 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... - 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... - 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... - 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... - 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)... - 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... - 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... - 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... - 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... - 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))... - 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... - 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... - 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... 
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....- 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... - 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 lossDongyi 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... - The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing lossQi 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... - 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 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... - The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathyYi 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... - 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... - 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... - Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese familyZongbin 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... - The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertensionYuqi Liu
Institute of Geriatric Cardiology, Chinese PLA General Hospital, Beijing, China
Biochem Biophys Res Commun 368:18-22. 2008.... - 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 lossHuijun 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... - 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... - Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafnessXiaoming 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... - 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 lossWie 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... - Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese familyHui 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... - 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... - Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing lossLidong 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... - Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafnessPu Dai
Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China
Biochem Biophys Res Commun 340:194-9. 2006.... - Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutationQiuju 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... - The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutationJia Qu
School of Ophthalmology and Optometry, Wenzhou Medical College, Zhejiang, China
Invest Ophthalmol Vis Sci 47:475-83. 2006..CONCLUSIONS: The novel tRNAMet A4435G mutation has a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family... - Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese familiesYi 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... - 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 lossHuijun 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... - The effect of the mtDNA4834 deletion on hearingWei 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... - The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese familyRonghua 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... - Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutationLidong Zhao
Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China
Biochem Biophys Res Commun 325:1503-8. 2004.... - Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese familiesPu 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... - 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 lossRonghua 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... - Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutationWie 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... - Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutationQiuju 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... - Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybridsXiaoming 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... - Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutationJia 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... - Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathyYaping 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... - Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese familiesXiangtian 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... - Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese familiesYan-Hong Sun
Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, China
Biochem Biophys Res Commun 347:221-5. 2006.... - Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese familyJia 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... - Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese familyJianxin 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...