The GNAS complex locus encodes the alpha-subunit of the stimulatory G protein (Gsα), a
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …

GNAS is a complex imprinted gene that uses multiple promoters to generate several gene
products, including the G protein α-subunit (Gsα) that couples seven-transmembrane …

The currently estimated number of genes in the human genome is much smaller than
previously predicted. As an explanation for this disparity, most individual genes have …

Abstract Context: Pseudohypoparathyroidism (PHP) type Ia is a rare maternally transmitted
disease due to maternal loss-of-function mutations of GNAS, the gene encoding Gαs, the α …

The GNAS1 gene encodes the α subunit of the G protein Gs, which couples receptor binding
by several hormones to activation of adenylate cyclase. Null mutations of GNAS1 cause …

Abstract Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading
to deficiency of the α‐subunit of stimulatory G proteins (Gsα) that mediate signal transduction …

GNAS1 on chromosome 20 is a complex locus, encoding multiple proteins, of which Gsα,
the α‐subunit of the heterotrimeric stimulatory G protein Gs, is of particular interest clinically …

Context: Several endocrine disorders that share resistance to PTH are grouped under the
term pseudohypoparathyroidism (PHP). PHP type I, associated with blunted PTH-induced …

Albright hereditary osteodystrophy (AHO), an autosomal dominant disorder characterized by
short stature, obesity, and skeletal defects, is associated with heterozygous inactivating …

The heterotrimeric G protein Gs couples hormone receptors (as well as other receptors) to
the effector enzyme adenylyl cyclase and is therefore required for hormone-stimulated …