Entry
Name
Type
Loss of function
Gene
IGF1 insulin-like growth factor 1 isoform 3 preproprotein [KO:
K05459 ]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
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
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
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
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
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