Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.

European journal of endocrinology - 30 Mar 2024

Saglia Claudia, Arruga Francesca, Scolari Caterina, Kalantari Silvia, Albanese Serena, Bracciamà Valeria, Corso Faini Angelo, Brach Del Prever Giulia, Luca Maria, Romeo Carmelo, Mioli Fiorenza, Migliorero Martina, Tessaris Daniele, Carli Diana, Amoroso Antonio, Vaisitti Tiziana, De Sanctis Luisa, Deaglio Silvia

Abstract excerpt

OBJECTIVE: The calcium-sensing receptor (CASR) gene encodes a G protein-coupled receptor crucial for calcium homeostasis. Gain-of-function CASR variants result in hypocalcemia, while loss-of-function variants lead to hypercalcemia. This study aims to assess the functional consequences of the novel nonsense CASR variant [c.2897_2898insCTGA, p.(Gln967*) (Q967*)] identified in adolescent patient with chronic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hypercalcemia
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium

Share to HEK293 Cells

Share to Hypocalcemia

Share to Mutation

Share to Receptors, Calcium-Sensing

Source

Identifiers

PMID: 38561929
DOI: 10.1093/ejendo/lvae035

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.PMID 38561929Read ↗

A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia.Semantic proximity Read ↗

Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function.Semantic proximity Read ↗

Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing ReceptorSemantic proximity Read ↗

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.Semantic proximity Read ↗

Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.Semantic proximity Read ↗

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.Semantic proximity Read ↗

Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.Semantic proximity Read ↗

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.Semantic proximity Read ↗

Molecular and clinical insights from studies of calcium-sensing receptor mutationsSemantic proximity Read ↗

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Semantic proximity Read ↗

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.Semantic proximity Read ↗

The calcium-sensing receptor and related diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.