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G proteins and G-protein-coupled receptors (GPCRs) mediate the effects of a number of hormones. Genes that encode these molecules are subject to loss-of function or gain-of-function mutations that result in endocrine disorders.2006年12月1日
作者:G Vassart2011被引用次数:132 — Over the past 20 years, naturally occurring mutations that affect G protein-coupled receptors (GPCRs) have been identified, ...
作者:G Vassart2011被引用次数:132 — G protein-coupled receptors (GPCRs) are key factors in endocrinology; studies of loss-of-function or gain-of-function mutations have ...

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Mutations in G Proteins and G Protein-Coupled. Receptors in Endocrine Disease. ALLEN M. SPIEGEL. Metabolic Diseases Branch, National Institute of Diabetes ...
作者:G Vassart2011被引用次数:132 — ... naturally occurring mutations that affect G protein-coupled receptors (GPCRs) have been identified, mainly in patients with endocrine diseases.
作者:AM Spiegel2007被引用次数:11 — G protein-coupled receptors (GPCRs) have been identified in human diseases. Loss-of- function mutations in GPCRs for various hormones lead to hormone ...
G protein-coupled receptors (GPCRs) are key factors in endocrinology; studies of loss-of-function or gain-of-function mutations have contributed to our ...
作者:LR Montenegro2012被引用次数:14 — The abnormal transduction may be due to mutations in the genes encoding either G protein-coupled receptors or G proteins or effectors. In Table 2 human diseases ...
作者:AM Spiegel1996被引用次数:194 — Understanding the molecular basis of these diseases pro- vides valuable insights into G protein and GPCR structure and function, and may be important for ...
作者:A Spiegel2006被引用次数:2 — Part of the Research and Perspectives in Endocrine Interactions book series (RPEI) ... In general, diseases caused by GPCR loss-of-function mutations are ...

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