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

G protein-coupled receptor mutations and human genetic disease.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2014

Thompson Miles D, Hendy Geoffrey N, Percy Maire E, Bichet Daniel G, Cole David E C

Abstract excerpt

Genetic variations in G protein-coupled receptor genes (GPCRs) disrupt GPCR function in a wide variety of human genetic diseases. In vitro strategies and animal models have been used to identify the molecular pathologies underlying naturally occurring GPCR mutations. Inactive, overactive, or constitutively active receptors have been identified that result in pathology. These receptor variants may alter ligand...

Read the complete abstract on PubMed

Topics

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

Share to CASR gene
Share to Genetic Association Studies
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Receptors, G-Protein-Coupled

Source

Identifiers

PMID: 25150870
DOI: 10.1007/978-1-4939-0956-8_8

Genes

GNRHR
NPSR1
CASR
GPR35

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

G protein-coupled receptor mutations and human genetic disease.PMID 25150870Read ↗

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

G protein-coupled receptor (GPCR) gene variants and human genetic disease.Semantic proximity Read ↗

The G protein-coupled receptors: pharmacogenetics and disease.Semantic proximity Read ↗

Mutant G-protein-coupled receptors as a cause of human diseases.Semantic proximity Read ↗

G protein-coupled receptors: mutations and endocrine diseases.Semantic proximity Read ↗

Inherited diseases involving g proteins and g protein-coupled receptors.Semantic proximity Read ↗

G protein-coupled receptors: abnormalities in signal transmission, disease states and pharmacotherapy.Semantic proximity Read ↗

Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches.Semantic proximity Read ↗

Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.Semantic proximity Read ↗

Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.Semantic proximity Read ↗

[Molecular defects in plasma membrane hormone receptors].Semantic proximity Read ↗

Inherited endocrine diseases involving G proteins and G protein-coupled receptors.Semantic proximity Read ↗

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