Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Insulinähnlicher Wachtumsfaktor 1 Resistenz
IGF1R

Referenzen:

1.

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

[^]
2.

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.

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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.

[^]
7.

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.

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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.

[^]
12.

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

[^]
13.

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.

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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.

[^]
19.

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

[^]
20.

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.

[^]
21.

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.

[^]
22.

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

[^]
23.

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

[^]
24.

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.

[^]
25.

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

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
29.

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

[^]
30.

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.

[^]
31.

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.

[^]
32.

Herskowitz I et al. () Functional inactivation of genes by dominant negative mutations.

[^]
33.

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

[^]
34.

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.

[^]
35.

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

[^]
36.

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

[^]
37.

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

[^]
38.

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).

[^]
39.

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

[^]
40.

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.

[^]
41.

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

[^]

 

 
Ihre Nachricht: