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Article

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.

The New England journal of medicine - 17 May 1990

Patten J L, Johns D R, Valle D, Eil C, Gruppuso P A, Steele G, Smallwood P M, Levine M A

Abstract excerpt

Albright's hereditary osteodystrophy is an autosomal dominant disorder characterized by a short stature, brachydactyly, subcutaneous ossifications, and reduced expression or function of the alpha subunit of the stimulatory G protein (Gs alpha) of adenylate cyclase, which is necessary for the action of parathyroid and other hormones that use cyclic AMP as an intracellular second messenger. We identified a unique...

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PMID: 2109828
DOI: 10.1056/NEJM199005173222002

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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.

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Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.PMID 2109828Read ↗

Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.Semantic proximity Read ↗

Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.Semantic proximity Read ↗

Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.Semantic proximity Read ↗

A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.Semantic proximity Read ↗

Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy.Semantic proximity Read ↗

Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy.Semantic proximity Read ↗

A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.Semantic proximity Read ↗

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.Semantic proximity Read ↗

Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.Semantic proximity Read ↗

Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.Semantic proximity Read ↗

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.Semantic proximity Read ↗

Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy.Semantic proximity Read ↗

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