Insulin-Rezeptor-Substrat 2
Das vom IRS2-Gen kodierte ein Protein der Signaltransduktion. Es ist das Bindeglied verschiedener rezeptorgebundener Tyrosinkinasen und den intrazellulären Effektoren. Neben dem Insulinrezeptor vermittelt dieses Protein auch die Signale des IGF1-Rezeptors und verschiedener Zytokine. Mutationen werden mit einer Insulinresistenz und Typ 2 Diabetes in Verbindung gebracht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Taniguchi CM et al. (2005) Complementary roles of IRS-1 and IRS-2 in the hepatic regulation of metabolism.
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2. |
Withers DJ et al. (1998) Disruption of IRS-2 causes type 2 diabetes in mice.
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3. |
Sun XJ et al. (1995) Role of IRS-2 in insulin and cytokine signalling.
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4. |
None (2008) A victory for PETA.
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5. |
Selman C et al. (2008) Comment on "Brain IRS2 signaling coordinates life span and nutrient homeostasis".
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6. |
Taguchi A et al. (2007) Brain IRS2 signaling coordinates life span and nutrient homeostasis.
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7. |
Lin X et al. (2004) Dysregulation of insulin receptor substrate 2 in beta cells and brain causes obesity and diabetes.
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8. |
Hennige AM et al. (2003) Upregulation of insulin receptor substrate-2 in pancreatic beta cells prevents diabetes.
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9. |
Lautier C et al. (2003) Complex haplotypes of IRS2 gene are associated with severe obesity and reveal heterogeneity in the effect of Gly1057Asp mutation.
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10. |
D'Alfonso R et al. (2003) Polymorphisms of the insulin receptor substrate-2 in patients with type 2 diabetes.
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11. |
Fritsche A et al. (2001) The prevalent Gly1057Asp polymorphism in the insulin receptor substrate-2 gene is not associated with impaired insulin secretion.
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12. |
Wang H et al. (2001) New amino acid substitutions in the IRS-2 gene in Finnish and Chinese subjects with late-onset type 2 diabetes.
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13. |
Kubota N et al. (2000) Disruption of insulin receptor substrate 2 causes type 2 diabetes because of liver insulin resistance and lack of compensatory beta-cell hyperplasia.
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14. |
Burks DJ et al. (2000) IRS-2 pathways integrate female reproduction and energy homeostasis.
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15. |
Almind K et al. (1999) Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of their relation with alterations in insulin secretion and insulin sensitivity.
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16. |
Withers DJ et al. (1999) Irs-2 coordinates Igf-1 receptor-mediated beta-cell development and peripheral insulin signalling.
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17. |
Mammarella S et al. (2000) Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes.
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18. |
Uchida T et al. (2005) Deletion of Cdkn1b ameliorates hyperglycemia by maintaining compensatory hyperinsulinemia in diabetic mice.
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19. |
Tobe K et al. (2001) Increased expression of the sterol regulatory element-binding protein-1 gene in insulin receptor substrate-2(-/-) mouse liver.
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20. |
Shimomura I et al. (2000) Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice.
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21. |
Terauchi Y et al. (2007) Glucokinase and IRS-2 are required for compensatory beta cell hyperplasia in response to high-fat diet-induced insulin resistance.
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22. |
Ogihara T et al. (1997) 14-3-3 protein binds to insulin receptor substrate-1, one of the binding sites of which is in the phosphotyrosine binding domain.
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23. |
Böhni R et al. (1999) Autonomous control of cell and organ size by CHICO, a Drosophila homolog of vertebrate IRS1-4.
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24. |
OMIM.ORG article
Omim 600797
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25. |
NCBI article
NCBI 8660
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Update: 14. August 2020