Angiopoietin-related Protein 4
Das ANGPTL4-Gen kodiert ein glycosiliertes Hormon welches in der Regulation der Glukose-Homöostase, des Lipidstoffwechsels und der Insulin-Sensitivität beteiligt ist. Mutationen werden im Zusammenhang mit familiärer Hypertrigylceridämie gesehen.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
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2. |
Zheng J et al. (2012) Inhibitory receptors bind ANGPTLs and support blood stem cells and leukaemia development.
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3. |
Romeo S et al. (2009) Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
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4. |
Dewey FE et al. (2016) Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
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5. |
Kersten S et al. (2000) Characterization of the fasting-induced adipose factor FIAF, a novel peroxisome proliferator-activated receptor target gene.
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6. |
Yoon JC et al. (2000) Peroxisome proliferator-activated receptor gamma target gene encoding a novel angiopoietin-related protein associated with adipose differentiation.
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7. |
Bäckhed F et al. (2004) The gut microbiota as an environmental factor that regulates fat storage.
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8. |
Minn AJ et al. (2005) Genes that mediate breast cancer metastasis to lung.
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9. |
Sukonina V et al. (2006) Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue.
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10. |
Galaup A et al. (2006) Angiopoietin-like 4 prevents metastasis through inhibition of vascular permeability and tumor cell motility and invasiveness.
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11. |
Romeo S et al. (2007) Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.
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12. |
Padua D et al. (2008) TGFbeta primes breast tumors for lung metastasis seeding through angiopoietin-like 4.
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13. |
Talmud PJ et al. (2008) ANGPTL4 E40K and T266M: effects on plasma triglyceride and HDL levels, postprandial responses, and CHD risk.
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14. |
Yin W et al. (2009) Genetic variation in ANGPTL4 provides insights into protein processing and function.
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15. |
NCBI article
NCBI 51129
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16. |
OMIM.ORG article
Omim 605910
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Update: 14. August 2020