Tribbles-Homolog 1
Das TRIB1-Gen kodiert einen Regulator des Kohlenhydratstoffwechsel mit Auswirkungen auch auf den Lipidstoffwechsel. Aus diesem Grunde finden sich in genomweiten Assoziationsstudien Verbindungen zur Hyperlipämie und zur korobaren Herzkrankheit. Der genaue Mechanismus der Wirkungsweise diese Proteins ist noch nicht bekannt.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Wilkin F et al. (1997) Characterization of a phosphoprotein whose mRNA is regulated by the mitogenic pathways in dog thyroid cells.
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2. |
Eyers PA et al. (2017) Tribbles in the 21st Century: The Evolving Roles of Tribbles Pseudokinases in Biology and Disease.
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3. |
Stein SJ et al. (2015) Tribbles in normal and malignant haematopoiesis.
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4. |
Kahali B et al. (2015) Insights from Genome-Wide Association Analyses of Nonalcoholic Fatty Liver Disease.
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5. |
Iwamoto S et al. (2015) The role of TRIB1 in lipid metabolism; from genetics to pathways.
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6. |
Bauer RC et al. (2015) Tribbles-1: a novel regulator of hepatic lipid metabolism in humans.
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7. |
Ahmadzadeh A et al. (2014) Genes associated with low serum high-density lipoprotein cholesterol.
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8. |
Bauer RC et al. (2011) Functional validation of new pathways in lipoprotein metabolism identified by human genetics.
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9. |
Hegedus Z et al. (2006) Tribbles: novel regulators of cell function; evolutionary aspects.
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10. |
Yoshida A et al. (2013) COP1 targets C/EBPα for degradation and induces acute myeloid leukemia via Trib1.
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11. |
Satoh T et al. (2013) Critical role of Trib1 in differentiation of tissue-resident M2-like macrophages.
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12. |
Kiss-Toth E et al. (2004) Human tribbles, a protein family controlling mitogen-activated protein kinase cascades.
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13. |
Storlazzi CT et al. (2004) Identification of a commonly amplified 4.3 Mb region with overexpression of C8FW, but not MYC in MYC-containing double minutes in myeloid malignancies.
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14. |
Wu M et al. (2003) SINK is a p65-interacting negative regulator of NF-kappaB-dependent transcription.
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15. |
Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
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16. |
NCBI article
NCBI 10221
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17. |
OMIM.ORG article
Omim 609461
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Update: 14. August 2020