Mitochondriales CYTB-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. |
None (1956) On the origin of cancer cells.
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2. |
Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
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3. |
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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4. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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5. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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6. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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7. |
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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8. |
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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9. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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10. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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11. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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12. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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13. |
Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.
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14. |
Johns DR et al. (1991) Cytochrome b mutations in Leber hereditary optic neuropathy.
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15. |
Schuelke M et al. (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
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16. |
Andreu AL et al. (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
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17. |
Fliss MS et al. (2000) Facile detection of mitochondrial DNA mutations in tumors and bodily fluids.
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18. |
Andreu AL et al. (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
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19. |
Keightley JA et al. (2000) Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.
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20. |
Rana M et al. (2000) An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production.
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21. |
Legros F et al. (2001) Functional characterization of novel mutations in the human cytochrome b gene.
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22. |
Wibrand F et al. (2001) Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.
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23. |
Okura T et al. (2003) Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population.
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24. |
None (1976) Vectorial chemistry and the molecular mechanics of chemiosmotic coupling: power transmission by proticity.
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25. |
Dasgupta S et al. (2008) Mitochondrial cytochrome B gene mutation promotes tumor growth in bladder cancer.
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26. |
None (1976) Possible molecular mechanisms of the protonmotive function of cytochrome systems.
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27. |
Crivellone MD et al. (1988) Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2-cytochrome c reductase complex.
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28. |
González-Halphen D et al. (1988) Subunit arrangement in beef heart complex III.
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29. |
Linke P et al. (1986) Reconstitution of ubiquinol-cytochrome-c reductase from Neurospora mitochondria with regard to subunits I and II.
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30. |
Schägger H et al. (1986) Isolation of the eleven protein subunits of the bc1 complex from beef heart.
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31. |
None (1985) The mitochondrial electron transport and oxidative phosphorylation system.
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32. |
Wikström M et al. (1986) The semiquinone cycle. A hypothesis of electron transfer and proton translocation in cytochrome bc-type complexes.
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33. |
Tzagoloff A et al. (1986) Assembly of the mitochondrial membrane system. Characterization of COR1, the structural gene for the 44-kilodalton core protein of yeast coenzyme QH2-cytochrome c reductase.
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34. |
Oudshoorn P et al. (1987) Subunit II of yeast QH2:cytochrome-c oxidoreductase. Nucleotide sequence of the gene and features of the protein.
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35. |
Weiss H et al. (1987) Structure and function of the mitochondrial ubiquinol: cytochrome c reductase and NADH: ubiquinone reductase.
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36. |
Spiro AJ et al. (1970) A cytochrome-related inherited disorder of the nervous system and muscle.
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37. |
Kennaway NG et al. (1984) Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.
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38. |
Hayes DJ et al. (1984) A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain.
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39. |
Wikström M et al. (1981) Proton-translocating cytochrome complexes.
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40. |
Darley-Usmar VM et al. (1983) Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis.
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41. |
None (1984) Location of haem-binding sites in the mitochondrial cytochrome b.
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42. |
Morgan-Hughes JA et al. (1982) Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.
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43. |
None (1976) Composition, structure, and function of complex III of the respiratory chain.
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44. |
Huoponen K et al. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.
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45. |
Bouzidi MF et al. () Decreased expression of ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance.
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46. |
Heher KL et al. (1993) A maculopathy associated with the 15257 mitochondrial DNA mutation.
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47. |
Johns DR et al. (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation.
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48. |
Esposti MD et al. (1993) Mitochondrial cytochrome b: evolution and structure of the protein.
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49. |
Mackey DA et al. (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
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50. |
Dumoulin R et al. (1996) A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
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51. |
Andreu AL et al. (1998) Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
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52. |
Andreu AL et al. (1999) A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
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53. |
De Coo IF et al. (1999) A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
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54. |
NCBI article
NCBI 4519 [^]
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55. |
OMIM.ORG article
Omim 516020 [^]
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56. |
Orphanet article
Orphanet ID 123524 [^]
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Update: 9. Mai 2019