Article
G protein-coupled receptors: mutations and endocrine diseases.
Nature reviews. Endocrinology - 1 Jun 2011
Vassart Gilbert, Costagliola Sabine
Abstract excerpt
Over the past 20 years, naturally occurring mutations that affect G protein-coupled receptors (GPCRs) have been identified, mainly in patients with endocrine diseases. The study of loss-of-function or gain-of-function mutations has contributed to our understanding of the pathophysiology of several diseases with classic hypophenotypes or hyperphenotypes of the target endocrine organs, respectively. Simultaneously,...
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