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Updated: Aug 5, 2025

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
Kinase Inhibitors in Genetic Diseases
Lucia D'Antona1,2, Rosario Amato1,2, Carolina Brescia1
1Department of Health Sciences, University "Magna Graecia" at Catanzaro, 88100 Catanzaro, Italy.
Abstract:
Over the years, several studies have shown that kinase-regulated signaling pathways are involved in the development of rare genetic diseases. The study of the mechanisms underlying the onset of these diseases has opened a possible way for the development of targeted therapies using particular kinase inhibitors. Some of these are currently used to treat other diseases, such as cancer. This review aims to describe the possibilities of using kinase inhibitors in genetic pathologies such as tuberous sclerosis, RASopathies, and ciliopathies, describing the various pathways involved and the possible targets already identified or currently under study.
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