[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.]

doi:CliCa1704521527

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Article

[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.]

Clinical calcium - 1 Jan 2000

Michigami Toshimi

Abstract excerpt

Sensing of extracellular calcium(Ca2+)levels involves the Ca-sensing receptor(CaSR), its downstream signaling molecule Gα11, and the adaptor-related protein complex 2(AP2)that plays a role in clathrin-dependent endocytosis of CaSR. Inactivating mutations in CaSR cause familial hypocalciuric hypercalcemia type 1(FHH1)and neonatal severe hyperparathyroidism(NSHPT), while activating mutations lead to autosomal...

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PMID: 28336828
DOI: CliCa1704521527

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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