Mitochondriales ND4-Gen
Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Wong A et al. (2002) Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.
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2. |
Johns DR et al. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
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3. |
Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex?
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4. |
Johns DR et al. (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.
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5. |
Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.
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6. |
Howell N et al. (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.
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7. |
Johns DR et al. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
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8. |
Majander A et al. (1991) Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
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9. |
Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.
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10. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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11. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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12. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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13. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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14. |
Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.
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15. |
Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.
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16. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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17. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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18. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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19. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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20. |
Chinnery PF et al. (2001) Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
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21. |
Guy J et al. (2002) Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy.
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22. |
Mimaki M et al. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.
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23. |
Deschauer M et al. (2003) Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.
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24. |
Lertrit P et al. (1992) 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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25. |
Zhu DP et al. (1992) Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.
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26. |
Sudoyo H et al. (1992) Molecular genetics of Leber's hereditary optic neuropathy: study of a six-generation family from Western Australia.
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27. |
Mashima Y et al. (1992) Remission of Leber's hereditary optic neuropathy with idebenone.
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28. |
Bruyn GW et al. (1992) Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings.
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29. |
Qu J et al. (2006) The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.
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30. |
Phasukkijwatana N et al. (2006) The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees.
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31. |
Carelli V et al. (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
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32. |
Larsson NG et al. (1991) Leber's hereditary optic neuropathy and complex I deficiency in muscle.
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33. |
Poulton J et al. (1991) Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy.
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34. |
Cortelli P et al. (1991) Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.
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35. |
Ellouze S et al. (2008) Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.
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36. |
Ji Y et al. (2008) Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.
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37. |
Carducci C et al. (1991) Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.
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38. |
Kormann BA et al. (1991) Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.
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39. |
Vilkki J et al. (1990) Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.
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40. |
Stone EM et al. (1990) Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.
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41. |
Newman NJ et al. (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.
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42. |
Johns DR et al. (1990) The molecular genetics of Leber's hereditary optic neuropathy.
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43. |
Huoponen K et al. (1990) Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
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44. |
Lott MT et al. (1990) Variable genotype of Leber's hereditary optic neuropathy patients.
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45. |
Newman NJ et al. (1990) Mitochondria and Leber's hereditary optic neuropathy.
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46. |
Bolhuis PA et al. (1990) Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.
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47. |
Yoneda M et al. (1989) Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy.
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48. |
Singh G et al. (1989) A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.
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49. |
Holt IJ et al. (1989) Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
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50. |
Vilkki J et al. (1989) Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.
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51. |
Hotta Y et al. (1989) Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification.
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52. |
Wallace DC et al. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
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53. |
Danks RA et al. (1988) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema.
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54. |
Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
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55. |
Nørby S et al. () Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy.
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56. |
Mashima Y et al. (1993) High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy.
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57. |
Sakuta R et al. (1993) An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.
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58. |
Cullom ME et al. (1993) Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia.
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59. |
Smith KH et al. (1993) Heteroplasmy in Leber's hereditary optic neuropathy.
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60. |
Johns DR et al. (1993) Identical twins who are discordant for Leber's hereditary optic neuropathy.
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61. |
Mashima Y et al. (1993) DNA diagnosis of Leber's hereditary optic neuropathy by using dried blood specimens.
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62. |
Cavelier L et al. (1993) Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.
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63. |
Nakamura M et al. (1993) Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.
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64. |
Erickson CE et al. (1993) PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy.
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65. |
Moorman CM et al. (1993) Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood.
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66. |
Weiner NC et al. (1993) Atypical Leber's hereditary optic neuropathy with molecular confirmation.
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67. |
Newman NJ et al. (1993) Leber's hereditary optic neuropathy. New genetic considerations.
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68. |
Kogelnik AM et al. (1996) MITOMAP: a human mitochondrial genome database.
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69. |
De Vries DD et al. (1996) 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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70. |
Torroni A et al. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
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Update: 26. September 2018