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

Gs(alpha) mutations and imprinting defects in human disease.

Annals of the New York Academy of Sciences - 1 Jun 2002

Weinstein Lee S, Chen Min, Liu Jie

Abstract excerpt

Gs is the ubiquitously expressed heterotrimeric G protein that couples receptors to the effector enzyme adenylyl cyclase and is required for receptor-stimulated intracellular cAMP generation. Activated receptors promote the exchange of GTP for GDP on the Gs alpha-subunit (Gs(alpha)), resulting in Gs activation; an intrinsic GTPase activity of Gs(alpha) deactivates Gs by hydrolyzing bound GTP to GDP. Mutations of...

Read the complete abstract on PubMed

Topics

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

Share to Endocrine Gland Neoplasms
Share to Fibrous Dysplasia, Polyostotic
Share to GTP-Binding Protein alpha Subunits, Gs

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

Share to Mice, Knockout

Share to Mutation

Share to Promoter Regions, Genetic

Share to Pseudohypoparathyroidism

Source

Identifiers

PMID: 12119276
DOI: 10.1111/j.1749-6632.2002.tb04335.x

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

Gs(alpha) mutations and imprinting defects in human disease.PMID 12119276Read ↗

Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.Semantic proximity Read ↗

Minireview: GNAS: normal and abnormal functions.Semantic proximity Read ↗

GNAS Spectrum of Disorders.Semantic proximity Read ↗

GNAS mutations and heterotopic ossification.Semantic proximity Read ↗

GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.Semantic proximity Read ↗

GNAS locus and pseudohypoparathyroidism.Semantic proximity Read ↗

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Semantic proximity Read ↗

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.Semantic proximity Read ↗

G protein mutations in endocrine diseases.Semantic proximity Read ↗

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.Semantic proximity Read ↗

Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene.Semantic proximity Read ↗

Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.Semantic proximity Read ↗

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