| 1 | MT-ND2, MT-ND4
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| Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males.
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| Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Tanaka M.
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| Hum Genet 120(6):827-36. Epub 2006 Oct 11. 2007
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| 2 | MT-ND4
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| The expression of the mitochondrial gene MT-ND4 is downregulated in cystic fibrosis.
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| Valdivieso AG, Marcucci F, Taminelli G, Guerrico AG, Alvarez S, Teiber ML, Dankert MA, Santa-Coloma TA.
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| Biochem Biophys Res Commun 356(3):805-809. Epub 2007 Mar 19. 2007
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| 3 | COX1, MT-ATP8, MT-CO2, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND6
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| Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective.
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| Roostalu U, Kutuev I, Loogvali EL, Metspalu E, Tambets K, Reidla M, Khusnutdinova EK, Usanga E, Kivisild T, Villems R.
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| Mol Biol Evol 24(2):436-48. Epub 2006 Nov 10. 2007
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| 4 | AINHL, MT-ND4
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| The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.
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| Liao Z, Zhao J, Zhu Y, Yang L, Yang A, Sun D, Zhao Z, Wang X, Tao Z, Tang X, Wang J, Guan M, Chen J, Li Z, Lu J, Guan MX.
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| Biochem Biophys Res Commun 362(3):670-6. Epub 2007 Aug 15. 2007
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| 5 | MELAS, MT-ND5, MT-ND4, MT-ND1
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| Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
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| Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K, Suzuki T.
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| Hum Mol Genet 15(6):897-904. Epub 2006 Jan 30. 2006
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| 6 | MT-ATP6, MT-CO2, MT-ND4
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| New variants in the mitochondrial genomes of schizophrenic patients.
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| Martorell L, Segues T, Folch G, Valero J, Joven J, Labad A, Vilella E.
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| Eur J Hum Genet 14(5):520-8. 2006
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| 7 | LHON, MT-ND4, MT-ND6
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| Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
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| Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A.
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| Am J Hum Genet 78(4):564-74. Epub 2006 Jan 27. 2006
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| 8 | MT-ND4, LHON
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| Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.
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| Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, Sun Y, Lu F, Qu J, Guan MX.
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| Biochem Biophys Res Commun 340(1):69-75. Epub 2005 Dec 6. 2006
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| 9 | AINHL, MT-ND4
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| Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families.
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| Dai P, Yuan Y, Huang D, Qian Y, Liu X, Han D, Yuan H, Wang X, Young WY, Guan MX.
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| Biochem Biophys Res Commun 348(1):200-5. Epub 2006 Jul 17. 2006
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| 10 | LHON, MT-ND4
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| Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.
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| Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX.
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| Biochem Biophys Res Commun 332(2):614-21. 2005
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| 11 | MT-ND1, MT-ND3, MT-ND4, MT-ND2
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| Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.
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| Autere J, Moilanen JS, Finnila S, Soininen H, Mannermaa A, Hartikainen P, Hallikainen M, Majamaa K.
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| Hum Genet 115(1):29-35. Epub 2004 Apr 24. 2004
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| 12 | MT-ND4
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| Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy.
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| Guy J, Qi X, Pallotti F, Schon EA, Manfredi G, Carelli V, Martinuzzi A, Hauswirth WW, Lewin AS.
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| Ann Neurol 52(5):534-42. 2002
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| 13 | MT-ND4
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| Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
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| Chinnery PF, Andrews RM, Turnbull DM, Howell NN.
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| Am J Med Genet 98(3):235-43. 2001
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| 14 | MT-ND1, MT-ND2, MT-ND5, MT-ND4, MT-ND4L, MT-ND3
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| Reanalysis and revision of the Cambridge reference sequence for humanmitochondrial DNA.
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| Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N.
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| Nat Genet 23(2):147. No abstract available. 1999
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| 15 | LHON, MT-ND4
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| Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
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| De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA.
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| Am J Hum Genet 58(4):703-11. 1996
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| 16 | MT-ND4
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| Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.
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| Cavelier L, Gyllensten U, Dahl N.
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| Clin Genet 43(2):69-72. 1993
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| 17 | MT-ND4
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| A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.
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| Lertrit P, Noer AS, Jean-Francois MJ, Kapsa R, Dennett X, Thyagarajan D, Lethlean K, Byrne E, Marzuki S.
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| Am J Hum Genet 51(3):457-68. 1992
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| 18 | MT-ND1, MT-ND4
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| Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 andthe ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
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| Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M.
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| FEBS Lett 292(1-2):289-92. 1991
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| 19 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
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| Molecular insight into the asymmetric distribution of pathogenetic humanmitochondrial DNA deletions.
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| Johns DR, Cornblath DR.
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| Biochem Biophys Res Commun 174(1):244-50. 1991
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| 20 | MT-ND2, MT-ND1, MT-ND4L, MT-ND3, MT-ND4, MT-ND5
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| Site-specific deletions of the mitochondrial genome in the Pearsonmarrow-pancreas syndrome.
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| Rotig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA,Munnich A.
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| Genomics 10(2):502-4. 1991
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| 21 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
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| Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
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| Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA.
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| Mol Cell Biol 11(3):1631-7. 1991
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| 22 | MT-ND4
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| The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.
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| Newman NJ, Lott MT, Wallace DC.
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| Am J Ophthalmol 111(6):750-62. 1991
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| 23 | MT-ND4
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| Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.
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| Cortelli P, Montagna P, Avoni P, Sangiorgi S, Bresolin N, Moggio M, Zaniol P, Mantovani V, Barboni P, Barbiroli B, et al.
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| Neurology 41(8):1211-5. 1991
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| 24 | MT-ND4
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| A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.
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| Singh G, Lott MT, Wallace DC.
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| N Engl J Med 320(20):1300-5. 1989
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| 25 | MT-ND4, LHON
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| Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
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| Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK.
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| Science 242(4884):1427-30. 1988
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| 26 | MAP6, MT-ATP8, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TA, MT-TC, MTTS1
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| Sequence and organization of the human mitochondrial genome.
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| Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG.
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| Nature 290(5806):457-65. 1981
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| 27 | MT-ND1, MT-ND4L, MT-ND5, MT-ND4, MT-ND3, MT-ND2
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| Distinctive features of the 5'-terminal sequences of the human mitochondrialmRNAs.
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| Montoya J, Ojala D, Attardi G.
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| Nature 290(5806):465-70. 1981
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