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Article

A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene.

Endocrinology - 1 Nov 2005

Germain-Lee Emily L, Schwindinger William, Crane Janet L, Zewdu Rediet, Zweifel Larry S, Wand Gary, Huso David L, Saji Motoyasu, Ringel Matthew D, Levine Michael A

Abstract excerpt

Albright hereditary osteodystrophy is caused by heterozygous inactivating mutations in GNAS, a gene that encodes not only the alpha-chain of Gs (Galphas), but also NESP55 and XLalphas through use of alternative first exons. Patients with GNAS mutations on maternally inherited alleles are resistant to multiple hormones such as PTH, TSH, LH/FSH, GHRH, and glucagon, whose receptors are coupled to Gs. This variant of...

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Source

Identifiers

PMID: 16099856
DOI: 10.1210/en.2005-0681

Genes

GNAS
PTH
GHRH

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.

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A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene.PMID 16099856Read ↗

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