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- W2024989169 abstract "G-protein-coupled receptors (GPCRs) and G proteins mediate the effects of a number of hormones of relevance to endocrinology. Genes encoding these molecules may be targets of loss- or gain-of-function mutations, resulting in endocrine disorders. The only mutational change of G proteins so far unequivocally associated with endocrine disorders occurs in the Gsα gene (GNAS1, guanine nucleotide binding protein α stimulating activity polypeptide 1), which activates cyclic AMP (cAMP)-dependent pathways. Heterozygous loss-of-function mutations of GNAS1 in the active maternal allele cause resistance to hormones acting through Gsα-coupled GPCRs, whereas somatic gain-of-function mutations cause proliferation of endocrine cells recognizing cAMP as mitogen. This review will focus on inactivating mutations leading to hormone resistance syndromes, i.e., pseudohypoparathyroidism types Ia and Ib." @default.
- W2024989169 created "2016-06-24" @default.
- W2024989169 creator A5023054623 @default.
- W2024989169 creator A5044615622 @default.
- W2024989169 date "2006-12-01" @default.
- W2024989169 modified "2023-10-09" @default.
- W2024989169 title "Mutations in the Gs alpha gene causing hormone resistance" @default.
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- W2024989169 doi "https://doi.org/10.1016/j.beem.2006.09.001" @default.
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