KEGG   VARIANT: 3479v1
Entry
3479v1                      Variant                                
Name
IGF1 mutation
Gene
IGF1  insulin like growth factor 1 [KO:K05459]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147440
Network
nt06324  GHRH-GH-IGF signaling
Disease
H02040  Insulin-like growth factor I deficiency
Reference
  Authors
Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS
  Title
Genomic analysis of primordial dwarfism reveals novel disease genes.
  Journal
Genome Res 24:291-9 (2014)
DOI:10.1101/gr.160572.113
Reference
  Authors
Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM
  Title
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.
  Journal
J Clin Endocrinol Metab 90:2855-64 (2005)
DOI:10.1210/jc.2004-1254
Reference
  Authors
Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA
  Title
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
  Journal
Front Endocrinol (Lausanne) 2:95 (2011)
DOI:10.3389/fendo.2011.00095
Reference
  Authors
Perrini S, Laviola L, Carreira MC, Cignarelli A, Natalicchio A, Giorgino F
  Title
The GH/IGF1 axis and signaling pathways in the muscle and bone: mechanisms underlying age-related skeletal muscle wasting and osteoporosis.
  Journal
J Endocrinol 205:201-10 (2010)
DOI:10.1677/JOE-09-0431
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