Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Gliom-Neigung
IDH1

Referenzen:

1.

Parsons DW et al. (2008) An integrated genomic analysis of human glioblastoma multiforme.

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2.

Yan H et al. (2009) IDH1 and IDH2 mutations in gliomas.

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3.

Dubbink HJ et al. (2009) IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide.

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4.

Bralten LB et al. (2011) IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo.

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5.

Flavahan WA et al. (2016) Insulator dysfunction and oncogene activation in IDH mutant gliomas.

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6.

Mardis ER et al. (2009) Recurring mutations found by sequencing an acute myeloid leukemia genome.

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7.

et al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

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8.

Miller CA et al. (2013) Genomic landscapes and clonality of de novo AML.

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9.

Brewin J et al. (2013) Genomic landscapes and clonality of de novo AML.

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10.

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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11.

Narahara K et al. (1985) Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3.

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12.

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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13.

Chen SH et al. (1972) Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase in man.

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14.

None (1972) Genetics of human-mouse somatic cell hybrids: linkage of human genes for isocitrate dehydrogenase and malate dehydrogenase.

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15.

None (1968) Intracellular location and genetic control of isozymes of NADP-dependent isocitrate dehydrogenase and malate dehydrogenase.

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16.

Turner BM et al. (1974) An account of two new ICD-S variants not detectable in red blood cells.

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17.

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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18.

None (1973) Linkage analysis in man by somatic cell genetics.

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19.

Nekrutenko A et al. (1998) Cytosolic isocitrate dehydrogenase in humans, mice, and voles and phylogenetic analysis of the enzyme family.

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20.

Geisbrecht BV et al. (1999) The human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)-dependent isocitrate dehydrogenase.

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21.

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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22.

None (1965) ISOZYMES OF ISOCITRATE DEHYDROGENASE: SUBUNIT STRUCTURE AND INTRACELLULAR LOCATION.

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23.

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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24.

Memon AA et al. (2005) Identification of differentially expressed proteins during human urinary bladder cancer progression.

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25.

Ronnebaum SM et al. (2006) A pyruvate cycling pathway involving cytosolic NADP-dependent isocitrate dehydrogenase regulates glucose-stimulated insulin secretion.

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26.

Aghili M et al. (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.

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27.

Zhao S et al. (2009) Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha.

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28.

Dang L et al. (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.

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29.

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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30.

Turcan S et al. (2012) IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype.

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31.

Koivunen P et al. (2012) Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.

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32.

Lu C et al. (2012) IDH mutation impairs histone demethylation and results in a block to cell differentiation.

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33.

Sasaki M et al. (2012) IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics.

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34.

Losman JA et al. (2013) (R)-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects are reversible.

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35.

Rohle D et al. (2013) An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells.

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36.

Saha SK et al. (2014) Mutant IDH inhibits HNF-4α to block hepatocyte differentiation and promote biliary cancer.

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37.

Schumacher T et al. (2014) A vaccine targeting mutant IDH1 induces antitumour immunity.

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38.

Orphanet article

Orphanet ID 299152 [^]
39.

NCBI article

NCBI 3417 [^]
40.

OMIM.ORG article

Omim 147700 [^]
Update: 29. April 2019