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Article

Novel activating mutations of the calcium-sensing receptor: the calcilytic NPS-2143 mitigates excessive signal transduction of mutant receptors.

The Journal of clinical endocrinology and metabolism - 1 Oct 2010

Letz Saskia, Rus Ramona, Haag Christine, Dörr Helmuth-Günther, Schnabel Dirk, Möhlig Matthias, Schulze Egbert, Frank-Raue Karin, Raue Friedhelm, Mayr Bernhard, Schöfl Christof

Abstract excerpt

CONTEXT AND OBJECTIVE: Activating mutations in the calcium-sensing receptor (CaSR) gene cause autosomal dominant hypocalcemia (ADH). The aims of the present study were the functional characterization of novel mutations of the CaSR found in patients, the comparison of in vitro receptor function with clinical parameters, and the effect of the allosteric calcilytic NPS-2143 on the signaling of mutant receptors as a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20668040
DOI: 10.1210/jc.2010-0651

Genes

NPS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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