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Article

Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

The Journal of clinical endocrinology and metabolism - 1 Oct 2001

Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K

Abstract excerpt

Albright's hereditary osteodystrophy (AHO) is characterized by phenotypic signs that typically include brachydactyly and sc calcifications occurring with or without hormone resistance toward PTH or other hormones such as thyroid hormone or gonadotropins. Different inactivating mutations of the gene GNAS1 encoding Gsalpha lead to a reduced Gsalpha protein activity in patients with AHO and pseudohypoparathyroidism...

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Source

Identifiers

PMID: 11600516
DOI: 10.1210/jcem.86.10.7946

Genes

PTH

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

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Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.PMID 11600516Read ↗

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

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.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 ↗

Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.Semantic proximity Read ↗

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

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

Activating and inactivating mutations in the human GNAS1 gene.Semantic proximity Read ↗

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.Semantic proximity Read ↗

Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.Semantic proximity Read ↗

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.Semantic proximity Read ↗

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.Semantic proximity Read ↗

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