Abstract This Consensus Statement covers recommendations for the diagnosis and
management of patients with pseudohypoparathyroidism (PHP) and related disorders …

Heterotrimeric G proteins are key players in transmembrane signaling by coupling a huge
variety of receptors to channel proteins, enzymes, and other effector molecules. Multiple …

Background GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which
mediates G protein–coupled receptor (GPCR) signaling. GNAS mutations cause …

Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous
disorders whose common feature is represented by impaired signaling of various hormones …

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 …

Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling
pathway are historically classified under the term pseudohypoparathyroidism (PHP), which …

▪ Abstract The kinship theory of genomic imprinting proposes that parent-specific gene
expression evolves at a locus because a gene's level of expression in one individual has …

On binding of parathyroid hormone (PTH) to its receptor, the heptahelical PTH/PTHrP
receptor (PTH1R), leads to dissociation of Gsa (encoded by GNAS), the alphasubunit of the …

Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the
underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G …

Context: The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and-Ib, are
caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS …