Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Insulin-like growth factor 1 (somatomedin C)

The IGF1 gene encodes a cytikin that mediates the effect of growth hormone in several tissues. Mutations cause autosomal recessive igf1 deficiency.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Insulin-like growth factor 1 deficiency
IGF1

References:

1.

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2.

Geary MP et al. (2003) Sexual dimorphism in the growth hormone and insulin-like growth factor axis at birth.

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3.

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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4.

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

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5.

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

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6.

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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7.

Aleman A et al. (1999) Insulin-like growth factor-I and cognitive function in healthy older men.

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8.

Sjögren K et al. (1999) Liver-derived insulin-like growth factor I (IGF-I) is the principal source of IGF-I in blood but is not required for postnatal body growth in mice.

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9.

Yakar S et al. (1999) Normal growth and development in the absence of hepatic insulin-like growth factor I.

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10.

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11.

Semsarian C et al. (1999) Skeletal muscle hypertrophy is mediated by a Ca2+-dependent calcineurin signalling pathway.

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12.

Musarò A et al. (1999) IGF-1 induces skeletal myocyte hypertrophy through calcineurin in association with GATA-2 and NF-ATc1.

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13.

Playford MP et al. (2000) Insulin-like growth factor 1 regulates the location, stability, and transcriptional activity of beta-catenin.

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14.

Harman SM et al. (2000) Serum levels of insulin-like growth factor I (IGF-I), IGF-II, IGF-binding protein-3, and prostate-specific antigen as predictors of clinical prostate cancer.

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15.

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16.

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17.

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18.

Hellstrom A et al. (2001) Low IGF-I suppresses VEGF-survival signaling in retinal endothelial cells: direct correlation with clinical retinopathy of prematurity.

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19.

Smith PJ et al. (2002) An exonic splicing enhancer in human IGF-I pre-mRNA mediates recognition of alternative exon 5 by the serine-arginine protein splicing factor-2/alternative splicing factor.

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20.

Barton ER et al. (2002) Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice.

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21.

Vaessen N et al. (2002) Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight.

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22.

Arends N et al. (2002) Polymorphism in the IGF-I gene: clinical relevance for short children born small for gestational age (SGA).

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23.

Humbert S et al. (2002) The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves Huntingtin phosphorylation by Akt.

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24.

Simó R et al. (2002) Free insulin growth factor-I and vascular endothelial growth factor in the vitreous fluid of patients with proliferative diabetic retinopathy.

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25.

Carro E et al. (2002) Serum insulin-like growth factor I regulates brain amyloid-beta levels.

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26.

Johnston LB et al. (2003) Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations.

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27.

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28.

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29.

Sussenbach JS et al. (1992) Structure and expression of the human insulin-like growth factor genes.

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30.

Usala AL et al. (1992) Brief report: treatment of insulin-resistant diabetic ketoacidosis with insulin-like growth factor I in an adolescent with insulin-dependent diabetes.

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31.

Ruberte J et al. (2004) Increased ocular levels of IGF-1 in transgenic mice lead to diabetes-like eye disease.

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32.

Walenkamp MJ et al. (2005) Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.

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33.

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34.

Sutter NB et al. (2007) A single IGF1 allele is a major determinant of small size in dogs.

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35.

Kim S et al. (2007) Insulin-like growth factor-1 regulates platelet activation through PI3-Kalpha isoform.

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36.

Hers I et al. (2007) Insulin-like growth factor-1 potentiates platelet activation via the IRS/PI3Kalpha pathway.

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37.

Johansson M et al. (2007) Implications for prostate cancer of insulin-like growth factor-I (IGF-I) genetic variation and circulating IGF-I levels.

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38.

Kim SW et al. (1991) Structure and function of a human insulin-like growth factor-I gene promoter.

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39.

Mullis PE et al. (1991) Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients.

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40.

Schoenle EJ et al. (1991) Recombinant human insulin-like growth factor I (rhIGF I) reduces hyperglycaemia in patients with extreme insulin resistance.

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41.

Justice MJ et al. (1990) A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross.

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42.

Taylor BA et al. (1991) Localization of the gene encoding insulin-like growth factor I on mouse chromosome 10.

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43.

Pouladi MA et al. (2010) Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression.

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44.

Mayack SR et al. (2010) Systemic signals regulate ageing and rejuvenation of blood stem cell niches.

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45.

Takano K et al. (2010) Nebulin and N-WASP cooperate to cause IGF-1-induced sarcomeric actin filament formation.

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46.

Bowcock A et al. (1990) Polymorphism and mapping of the IGF1 gene, and absence of association with stature among African Pygmies.

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47.

Rapp R et al. (1988) Characterization of the protein which binds insulin-like growth factor in human serum.

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48.

Guler HP et al. (1989) Small stature and insulin-like growth factors: prolonged treatment of mini-poodles with recombinant human insulin-like growth factor I.

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49.

Le Bouc Y et al. (1986) Complete characterization of the human IGF-I nucleotide sequence isolated from a newly constructed adult liver cDNA library.

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50.

Rotwein P et al. (1986) Organization and sequence of the human insulin-like growth factor I gene. Alternative RNA processing produces two insulin-like growth factor I precursor peptides.

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51.

Höppener JW et al. (1985) The human gene encoding insulin-like growth factor I is located on chromosome 12.

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52.

Rotwein P et al. (1986) Two insulin-like growth factor I messenger RNAs are expressed in human liver.

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53.

Mathews LS et al. (1986) Regulation of insulin-like growth factor I gene expression by growth hormone.

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54.

Morton CC et al. (1986) Human genes for insulin-like growth factors I and II and epidermal growth factor are located on 12q22--q24.1, 11p15, and 4q25--q27, respectively.

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55.

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56.

Ullrich A et al. (1984) Isolation of the human insulin-like growth factor I gene using a single synthetic DNA probe.

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57.

Rinderknecht E et al. (1978) The amino acid sequence of human insulin-like growth factor I and its structural homology with proinsulin.

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58.

Jansen M et al. () Sequence of cDNA encoding human insulin-like growth factor I precursor.

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59.

Brissenden JE et al. () Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor.

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60.

Tricoli JV et al. () Localization of insulin-like growth factor genes to human chromosomes 11 and 12.

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61.

Li CH et al. (1983) Total synthesis of insulin-like growth factor I (somatomedin C).

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62.

Svoboda ME et al. (1980) Purification of somatomedin-C from human plasma: chemical and biological properties, partial sequence analysis, and relationship to other somatomedins.

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63.

Copeland KC et al. (1980) Induction of immunoreactive somatomedin C human serum by growth hormone: dose-response relationships and effect on chromatographic profiles.

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64.

Van Wyk JJ et al. (1980) Evidence from radioligand assays that somatomedin-C and insulin-like growth factor-I are similar to each other and different from other somatomedins.

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65.

Goddard AD et al. (1995) Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.

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66.

Powell-Braxton L et al. (1993) IGF-I is required for normal embryonic growth in mice.

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67.

Baker J et al. (1993) Role of insulin-like growth factors in embryonic and postnatal growth.

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68.

Woods KA et al. (1996) Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene.

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69.

Lembo G et al. (1996) Elevated blood pressure and enhanced myocardial contractility in mice with severe IGF-1 deficiency.

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70.

Zhu J et al. (1997) Analysis of a peptide hormone-receptor interaction in the yeast two-hybrid system.

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71.

Bianda T et al. (1998) Effects of short-term insulin-like growth factor-I (IGF-I) or growth hormone (GH) treatment on bone metabolism and on production of 1,25-dihydroxycholecalciferol in GH-deficient adults.

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72.

Holly J et al. (1998) Insulin-like growth factor-I and new opportunities for cancer prevention.

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73.

Hankinson SE et al. (1998) Circulating concentrations of insulin-like growth factor-I and risk of breast cancer.

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Update: Sept. 26, 2018