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

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.

JCI insight - 9 Feb 2017

Roszko Kelly L, Bi Ruiye, Gorvin Caroline M, Bräuner-Osborne Hans, Xiong Xiao-Feng, Inoue Asuka, Thakker Rajesh V, Strømgaard Kristian, Gardella Thomas, Mannstadt Michael

Abstract excerpt

Heterotrimeric G proteins play critical roles in transducing extracellular signals generated by 7-transmembrane domain receptors. Somatic gain-of-function mutations in G protein α subunits are associated with a variety of diseases. Recently, we identified gain-of-function mutations in Gα11 in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid...

Read the complete abstract on PubMed

Topics

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

Share to GTP-Binding Protein alpha Subunits
Share to Hypercalciuria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypocalcemia

Share to Hypoparathyroidism

Share to Naphthalenes

Share to Parathyroid Hormone

Share to Peptides, Cyclic

Share to Receptors, Calcium-Sensing

Source

Open in PubMed Open full text

Identifiers

PMID: 28194446
DOI: 10.1172/jci.insight.91079
PMCID: PMC5291736

Genes

CASR
PTH
GNA11
NPS

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.PMID 28194446Read ↗

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.Semantic proximity Read ↗

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.Semantic proximity Read ↗

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).Semantic proximity Read ↗

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)Semantic proximity Read ↗

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.Semantic proximity Read ↗

Calcimimetic and calcilytic therapies for inherited disorders of the calcium‐sensing receptor signalling pathwaySemantic proximity Read ↗

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.Semantic proximity Read ↗

Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).Semantic proximity Read ↗

G protein-coupled receptors disrupted in human genetic disease.Semantic proximity Read ↗

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.Semantic proximity Read ↗

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutationSemantic proximity Read ↗

G protein-coupled receptor mutations and human genetic disease.Semantic proximity Read ↗

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