Associated Papers
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
A rare co-segregation-mutation in the insulin receptor substrate 1 gene in one Chinese family with ankylosing spondylitis.
Rong J et al.
Plos One, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
IRS1 gene polymorphisms Gly972Arg and Ala513Pro are not associated with insulin resistance and type 2 diabetes risk in non-obese Turkish population.
Arikoglu H et al.
Meta Gene, 2014
Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese population- not correlated with insulin receptor substrate-1 Gly972Arg/Ala513Pro polymorphism.
Lin TC et al.
Bmc Medical Genetics, 2006
Molecular scanning for mutations in the insulin receptor substrate-1 (IRS-1) gene in Turkish with type 2 diabetes mellitus.
Orkunoglu Suer FE et al.
Endocrine Journal, 2005
Genetic association, post-translational modification, and protein-protein interactions in Type 2 diabetes mellitus.
Sharma A et al.
Molecular & Cellular Proteomics : Mcp, 2005
Human insulin receptor substrate-1 (IRS-1) polymorphism G972R causes IRS-1 to associate with the insulin receptor and inhibit receptor autophosphorylation.
McGettrick AJ et al.
The Journal of Biological Chemistry, 2005
A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.
Esposito DL et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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