Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

IGF1-Rezeptor

Das IGF1R-Gen kodiert einen Rezeptor mit Tyrosinkinase-Aktivität, der insbesondere von dem Insulin-ähnlichen Wachstumsfaktor (IGF1) stimuliert werden kann. Mutationen führen zur autosomal dominanten oder rezessiven IGF1-Resistenz. Neben der Wachstumsregulation scheint der Rezeptor auch eine Bedeutung für die Steuerung der Apoptose zu besitzen. Meist kann man ihn besonders zahlreich in bosartigem Tumorgewebe finden.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Insulinähnlicher Wachtumsfaktor 1 Resistenz
IGF1R

Referenzen:

1.

None () Functional inactivation of genes by dominant negative mutations.

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2.

Ueki K et al. (2006) Total insulin and IGF-I resistance in pancreatic beta cells causes overt diabetes.

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3.

Poduslo SE et al. (1991) Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis.

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4.

Lou M et al. (2006) The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.

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5.

Salehi-Ashtiani K et al. (2006) A genomewide search for ribozymes reveals an HDV-like sequence in the human CPEB3 gene.

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6.

Cooke DW et al. (1991) Analysis of the human type I insulin-like growth factor receptor promoter region.

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7.

Inagaki K et al. (2007) A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.

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8.

Bendall SC et al. (2007) IGF and FGF cooperatively establish the regulatory stem cell niche of pluripotent human cells in vitro.

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9.

Suh Y et al. (2008) Functionally significant insulin-like growth factor I receptor mutations in centenarians.

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10.

Walenkamp MJ et al. (2008) Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.

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11.

Roback EW et al. (1991) An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

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12.

Rasmussen SK et al. (2000) Studies of the variability of the genes encoding the insulin-like growth factor I receptor and its ligand in relation to type 2 diabetes mellitus.

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13.

Ullrich A et al. (1986) Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity.

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14.

Flier JS et al. (1986) Monoclonal antibody to the type I insulin-like growth factor (IGF-I) receptor blocks IGF-I receptor-mediated DNA synthesis: clarification of the mitogenic mechanisms of IGF-I and insulin in human skin fibroblasts.

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15.

Francke U et al. (1986) Chromosomal mapping of genes involved in growth control.

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16.

Howard TK et al. (1993) The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours.

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17.

Ogawa O et al. (1993) Human insulin-like growth factor type I and type II receptors are not imprinted.

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18.

Liu JP et al. (1993) Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r).

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19.

Werner H et al. (1996) Wild-type and mutant p53 differentially regulate transcription of the insulin-like growth factor I receptor gene.

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20.

Dey BR et al. (1998) Cloning of human p55 gamma, a regulatory subunit of phosphatidylinositol 3-kinase, by a yeast two-hybrid library screen with the insulin-like growth factor-I receptor.

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21.

Grant ES et al. (1998) The insulin-like growth factor type I receptor stimulates growth and suppresses apoptosis in prostatic stromal cells.

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22.

Kawashima Y et al. (2005) Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

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23.

Maor SB et al. (2000) BRCA1 suppresses insulin-like growth factor-I receptor promoter activity: potential interaction between BRCA1 and Sp1.

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24.

Tatar M et al. (2001) A mutant Drosophila insulin receptor homolog that extends life-span and impairs neuroendocrine function.

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25.

Rotem-Yehudar R et al. (2001) Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29.

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26.

Fernández AM et al. (2001) Functional inactivation of the IGF-I and insulin receptors in skeletal muscle causes type 2 diabetes.

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27.

All-Ericsson C et al. (2002) Insulin-like growth factor-1 receptor in uveal melanoma: a predictor for metastatic disease and a potential therapeutic target.

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28.

Kulkarni RN et al. (2002) beta-cell-specific deletion of the Igf1 receptor leads to hyperinsulinemia and glucose intolerance but does not alter beta-cell mass.

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29.

Scott BA et al. (2002) Regulation of hypoxic death in C. elegans by the insulin/IGF receptor homolog DAF-2.

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30.

Holzenberger M et al. (2003) IGF-1 receptor regulates lifespan and resistance to oxidative stress in mice.

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31.

Lambooij AC et al. (2003) Insulin-like growth factor-I and its receptor in neovascular age-related macular degeneration.

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32.

Giovannone B et al. (2003) Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling.

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33.

Kondo T et al. (2003) Knockout of insulin and IGF-1 receptors on vascular endothelial cells protects against retinal neovascularization.

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34.

Bonafè M et al. (2003) Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.

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35.

Abbott AM et al. (1992) Insulin-like growth factor I receptor gene structure.

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36.

Prager D et al. (1992) Human insulin-like growth factor I receptor function in pituitary cells is suppressed by a dominant negative mutant.

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37.

Nef S et al. (2003) Testis determination requires insulin receptor family function in mice.

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38.

Abuzzahab MJ et al. (2003) IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

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39.

Okubo Y et al. (2003) Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.

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40.

Wessells RJ et al. (2004) Insulin regulation of heart function in aging fruit flies.

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41.

Raile K et al. (2006) Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.

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42.

NCBI article

NCBI 3480 external link
43.

OMIM.ORG article

Omim 147370 external link
44.

Orphanet article

Orphanet ID 138578 external link
Update: 14. August 2020
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