Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

Related Diseases:

Insulin-like growth factor 1 deficiency
IGF1

References:

1.

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

external link
2.

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.

external link
3.

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

external link
4.

None (1986) Two insulin-like growth factor I messenger RNAs are expressed in human liver.

external link
5.

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

external link
6.

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.

external link
7.

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

external link
8.

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.

external link
9.

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

external link
10.

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

external link
11.

Daughaday WH et al. (1972) Somatomedin: proposed designation for sulphation factor.

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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.

external link
18.

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

external link
19.

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

external link
20.

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.

external link
21.

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

external link
22.

None (1998) Insulin-like growth factor-I and new opportunities for cancer prevention.

external link
23.

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.

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

Musarò A et al. (2001) Localized Igf-1 transgene expression sustains hypertrophy and regeneration in senescent skeletal muscle.

external link
40.

Le Roith D et al. (2001) What is the role of circulating IGF-I?

external link
41.

Yanovski JA et al. (2000) Insulin-like growth factors and bone mineral density in African American and White girls.

external link
42.

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.

external link
43.

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

external link
44.

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

external link
45.

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

external link
46.

Vestergaard P et al. (1999) Effect of sex hormone replacement on the insulin-like growth factor system and bone mineral: a cross-sectional and longitudinal study in 595 perimenopausal women participating in the Danish Osteoporosis Prevention Study.

external link
47.

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

external link
48.

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.

external link
49.

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

external link
50.

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

external link
51.

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
52.

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

external link
53.

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

external link
54.

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
55.

Lin SC et al. (1993) Molecular basis of the little mouse phenotype and implications for cell type-specific growth.

external link
56.

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.

external link
57.

None (2007) Insulin-like growth factor-1 potentiates platelet activation via the IRS/PI3Kalpha pathway.

external link
58.

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

external link
59.

Kurosu H et al. (2005) Suppression of aging in mice by the hormone Klotho.

external link
60.

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

external link
61.

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

external link
62.

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.

external link
63.

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

external link
64.

Bonapace G et al. (2003) A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.

external link
65.

None (2003) Insulin-like growth factors and the basis of growth.

external link
66.

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.

external link
67.

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

external link
68.

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.

external link
69.

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

external link
70.

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

external link
71.

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

external link
72.

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

external link
73.

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

external link
74.

NCBI article

NCBI 3479 external link
75.

OMIM.ORG article

Omim 147440 external link
76.

Orphanet article

Orphanet ID 122587 external link
77.

Wikipedia article

Wikipedia EN (Insulin-like_growth_factor_1) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues