Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy
- 17 May 1990
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 322 (20), 1412-1419
- https://doi.org/10.1056/nejm199005173222002
Abstract
Albright's hereditary osteodystrophy is an autosomal dominant disorder characterized by a short stature, brachydactyly, subcutaneous ossifications, and reduced expression or function of the α subunit of the stimulatory G protein (Gsα) of adenylate cyclase, which is necessary for the action of parathyroid and other hormones that use cyclic AMP as an intracellular second messenger.This publication has 62 references indexed in Scilit:
- An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.Journal of Clinical Investigation, 1988
- Identification of receptor contact site involved in receptor–G protein couplingNature, 1987
- Identification of the lesion in the stimulatory GTP‐binding protein of the uncoupled S49 lymphomaFEBS Letters, 1987
- An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.Journal of Clinical Investigation, 1987
- Identification of Specific Transducin α Subunits in Retinal Rod and Cone PhotoreceptorsScience, 1986
- Primary structure of the β‐subunit of bovine transducin deduced from the cDNA sequenceFEBS Letters, 1985
- Molecular Cloning of Complementary DNA for the Alpha Subunit of the G Protein that Stimulates Adenylate CyclaseScience, 1985
- Transducin and the inhibitory nucleotide regulatory protein inhibit the stimulatory nucleotide regulatory protein mediated stimulation of adenylate cyclase in phospholipid vesicle systemsBiochemistry, 1985
- Resistance to multiple hormones in patients with pseudohypoparathyroidismAmerican Journal Of Medicine, 1983
- Initiator Codons in EukaryotesNature, 1970