Clinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene

Iwanishi, Masanori; Kusakabe, Toru; Azuma, Choka; Tezuka, Yuji; Yamamoto, Yu; Ito-Kobayashi, Jun; Washiyama, Miki; Morimoto, Masashi

doi:10.1016/j.diabres.2019.04.034

Cited by 5 publications

(1 citation statement)

References 28 publications

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“…More than 50 mutations in IR have been identified that are linked to rare forms of insulin resistance [10]. However, T2D caused by the permanent insulin resistance resulted from mutation of IR is uncommon [11]. Insulin resistance is caused primarily by abnormalities in insulin signal transduction.…”

Section: Introductionmentioning

confidence: 99%

Current Studies on Molecular Mechanisms of Insulin Resistance

Pei

Wang

2022

Journal of Diabetes Research

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Diabetes is a metabolic disease that raises the risk of microvascular and neurological disorders. Insensitivity to insulin is a characteristic of type II diabetes, which accounts for 85-90 percent of all diabetic patients. The fundamental molecular factor of insulin resistance may be impaired cell signal transduction mediated by the insulin receptor (IR). Several cell-signaling proteins, including IR, insulin receptor substrate (IRS), and phosphatidylinositol 3-kinase (PI3K), have been recognized as being important in the impaired insulin signaling pathway since they are associated with a large number of proteins that are strictly regulated and interact with other signaling pathways. Many studies have found a correlation between IR alternative splicing, IRS gene polymorphism, the complicated regulatory function of IRS serine/threonine phosphorylation, and the negative regulatory role of p85 in insulin resistance and diabetes mellitus. This review brings up-to-date knowledge of the roles of signaling proteins in insulin resistance in order to aid in the discovery of prospective targets for insulin resistance treatment.

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Section: Introductionmentioning

confidence: 99%