Zytoplasmatische Isozitratdehydrogenase [NADP]
Das IDH1-Gen kodiert ein zytoplasmatisches Gen des Zitratstoffwechsels. Genetische Varianten sind mit der Neigung zu Gliomen vergesellschaftet.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Weil D et. al. (1977) [Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)].
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| 2. |
Narahara K et. al. (1985) Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3.
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| 3. |
Boone C et. al. (1972) Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11, E-17, and F-20 chromosomes).
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| 4. |
Chen SH et. al. (1972) Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase in man.
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| 5. |
None (1972) Genetics of human-mouse somatic cell hybrids: linkage of human genes for isocitrate dehydrogenase and malate dehydrogenase.
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| 6. |
None (1968) Intracellular location and genetic control of isozymes of NADP-dependent isocitrate dehydrogenase and malate dehydrogenase.
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| 7. |
Turner BM et. al. (1974) An account of two new ICD-S variants not detectable in red blood cells.
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| 8. |
Creagan RP et. al. (1974) Chromosome assignments of genes in man using mouse-human somatic cell hybrids: Cytoplasmic isocitrate dehydrogenase (IDH 1) and malate dehydrogenase (MDH 1) to chromosomes 2.
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| 9. |
None (1973) Linkage analysis in man by somatic cell genetics.
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| 10. |
Nekrutenko A et. al. (1998) Cytosolic isocitrate dehydrogenase in humans, mice, and voles and phylogenetic analysis of the enzyme family.
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| 11. |
Geisbrecht BV et. al. (1999) The human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)-dependent isocitrate dehydrogenase.
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| 12. |
Shechter I et. al. (2003) IDH1 gene transcription is sterol regulated and activated by SREBP-1a and SREBP-2 in human hepatoma HepG2 cells: evidence that IDH1 may regulate lipogenesis in hepatic cells.
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| 13. |
None (1965) ISOZYMES OF ISOCITRATE DEHYDROGENASE: SUBUNIT STRUCTURE AND INTRACELLULAR LOCATION.
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| 14. |
Xu X et. al. (2004) Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity.
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| 15. |
Memon AA et. al. (2005) Identification of differentially expressed proteins during human urinary bladder cancer progression.
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| 16. |
Ronnebaum SM et. al. (2006) A pyruvate cycling pathway involving cytosolic NADP-dependent isocitrate dehydrogenase regulates glucose-stimulated insulin secretion.
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| 17. |
Parsons DW et. al. (2008) An integrated genomic analysis of human glioblastoma multiforme.
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| 18. |
Aghili M et. al. (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.
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| 19. |
Yan H et. al. (2009) IDH1 and IDH2 mutations in gliomas.
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| 20. |
Zhao S et. al. (2009) Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha.
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| 21. |
Mardis ER et. al. (2009) Recurring mutations found by sequencing an acute myeloid leukemia genome.
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| 22. |
Dubbink HJ et. al. (2009) IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide.
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| 23. |
Dang L et. al. (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.
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| 24. |
Schnittger S et. al. (2010) IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status.
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| 25. |
Bralten LB et. al. (2011) IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo.
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| 26. |
Turcan S et. al. (2012) IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype.
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| 27. |
Koivunen P et. al. (2012) Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.
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| 28. |
Lu C et. al. (2012) IDH mutation impairs histone demethylation and results in a block to cell differentiation.
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| 29. |
Sasaki M et. al. (2012) IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics.
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| 30. |
Losman JA et. al. (2013) (R)-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects are reversible.
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| 31. |
Rohle D et. al. (2013) An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells.
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| 32. |
et. al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
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| 33. |
Miller CA et. al. (2013) Genomic landscapes and clonality of de novo AML.
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| 34. |
Brewin J et. al. (2013) Genomic landscapes and clonality of de novo AML.
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| 35. |
Saha SK et. al. (2014) Mutant IDH inhibits HNF-4α to block hepatocyte differentiation and promote biliary cancer.
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| 36. |
Schumacher T et. al. (2014) A vaccine targeting mutant IDH1 induces antitumour immunity.
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| 37. |
Flavahan WA et. al. (2016) Insulator dysfunction and oncogene activation in IDH mutant gliomas.
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Update: 26. September 2018
