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Inherited endocrine diseases involving G proteins and G protein-coupled receptors.

Endocrine development - 1 Jan 2007

Spiegel Allen M

Abstract excerpt

Naturally occurring mutations in the G protein Gs-alpha subunit and in a number of G protein-coupled receptors (GPCRs) have been identified in human diseases. Loss-of-function mutations in GPCRs for various hormones lead to hormone resistance manifest as hypofunction of the gland expressing the affected GPCR. Conversely, GPCR gain-of-function mutations lead to hormone-independent activation and hyperfunction of...

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Identifiers

PMID: 17986833
DOI: 10.1159/000111069

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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