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.

external link
2.

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

external link
3.

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

external link
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.

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
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.

external link
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.

external link
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.

external link
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.

external link
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.

external link
15.

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

external link
16.

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

external link
17.

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

external link
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).

external link
19.

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

external link
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.

external link
21.

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

external link
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.

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
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.

external link
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.

external link
29.

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

external link
30.

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

external link
31.

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

external link
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.

external link
33.

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

external link
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.

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
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.

external link
40.

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

external link
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.

external link
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
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum