Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zytoplasmatische Isozitratdehydrogenase [NADP]

Das IDH1-Gen kodiert ein zytoplasmatisches Gen des Zitratstoffwechsels. Genetische Varianten sind mit der Neigung zu Gliomen vergesellschaftet.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Gliom-Neigung
IDH1

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 ®-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) ®-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

 

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