Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Insulin-Rezeptor-Substrat 1

Das IRS1-Gen kodiert ein Protein, welches durch die Tyrosin-Kinase des Insulinrezeptors phosphoriliert wird. Mutationen finden sich bei Insulinresistenz und Typ 2 Diabetes.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung ausgewählter Gen-Abschnitte
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Erbliche Diabetesneigung
IRS1
MAPK8IP1
Insulinresistenz
CIDEC
Diabetes mellitus mit Insulinresistenz und Acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG

Referenzen:

1.

Hart LM et al. (1999) Prevalence of variants in candidate genes for type 2 diabetes mellitus in The Netherlands: the Rotterdam study and the Hoorn study.

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2.

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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3.

Porzio O et al. (1999) The Gly972-->Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic beta cells.

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4.

Baroni MG et al. (1999) A common mutation of the insulin receptor substrate-1 gene is a risk factor for coronary artery disease.

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5.

Kulkarni RN et al. (1999) Altered function of insulin receptor substrate-1-deficient mouse islets and cultured beta-cell lines.

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6.

Kido Y et al. (2000) Tissue-specific insulin resistance in mice with mutations in the insulin receptor, IRS-1, and IRS-2.

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7.

Ogata N et al. (2000) Insulin receptor substrate-1 in osteoblast is indispensable for maintaining bone turnover.

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8.

Hribal ML et al. (2000) The Gly-->Arg972 amino acid polymorphism in insulin receptor substrate-1 affects glucose metabolism in skeletal muscle cells.

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9.

Clancy DJ et al. (2001) Extension of life-span by loss of CHICO, a Drosophila insulin receptor substrate protein.

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10.

Esposito DL et al. (2003) A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.

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11.

Marini MA et al. (2003) The Arg972 variant in insulin receptor substrate-1 is associated with an atherogenic profile in offspring of type 2 diabetic patients.

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12.

Nishiyama M et al. (1992) Cloning and increased expression of an insulin receptor substrate-1-like gene in human hepatocellular carcinoma.

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13.

Abate N et al. (2003) Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance.

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14.

Federici M et al. (2004) G972R IRS-1 variant impairs insulin regulation of endothelial nitric oxide synthase in cultured human endothelial cells.

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15.

Drakas R et al. (2004) Control of cell size through phosphorylation of upstream binding factor 1 by nuclear phosphatidylinositol 3-kinase.

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16.

Perticone F et al. (2004) Impaired endothelial function in never-treated hypertensive subjects carrying the Arg972 polymorphism in the insulin receptor substrate-1 gene.

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17.

Kim JK et al. (2004) PKC-theta knockout mice are protected from fat-induced insulin resistance.

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18.

Taniguchi CM et al. (2005) Complementary roles of IRS-1 and IRS-2 in the hepatic regulation of metabolism.

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19.

Sun XJ et al. (1991) Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein.

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20.

Wu A et al. (2008) Nuclear insulin receptor substrate-1 activates promoters of cell cycle progression genes.

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21.

Shi B et al. (2007) Micro RNA 145 targets the insulin receptor substrate-1 and inhibits the growth of colon cancer cells.

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22.

Zhang J et al. (2008) The cell growth suppressor, mir-126, targets IRS-1.

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23.

Rung J et al. (2009) Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

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24.

Houghton AM et al. (2010) Neutrophil elastase-mediated degradation of IRS-1 accelerates lung tumor growth.

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25.

Song R et al. (2013) Central role of E3 ubiquitin ligase MG53 in insulin resistance and metabolic disorders.

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26.

Clausen JO et al. (1995) Insulin resistance: interactions between obesity and a common variant of insulin receptor substrate-1.

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27.

Nishiyama M et al. (1994) The human insulin receptor substrate-1 gene (IRS1) is localized on 2q36.

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28.

Myers MG et al. (1994) The IRS-1 signaling system.

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29.

Laakso M et al. (1994) Insulin receptor substrate-1 variants in non-insulin-dependent diabetes.

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30.

Almind K et al. (1993) Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus.

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31.

Stoffel M et al. (1993) Human insulin receptor substrate-1 gene (IRS1): chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism.

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32.

Araki E et al. (1993) Human skeletal muscle insulin receptor substrate-1. Characterization of the cDNA, gene, and chromosomal localization.

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33.

Almind K et al. (1996) A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies.

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34.

Esposito DL et al. (1996) Deletion of Gly723 in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus.

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35.

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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36.

Abe H et al. (1998) Hypertension, hypertriglyceridemia, and impaired endothelium-dependent vascular relaxation in mice lacking insulin receptor substrate-1.

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