During pregnancy and lactation, female physiology adapts to meet the added nutritional
demands of fetuses and neonates. An average full-term fetus contains∼ 30 g calcium, 20 g …

Genomic imprinting is an epigenetic phenomenon that results in monoallelic gene
expression according to parental origin. It has long been established that imprinted genes …

This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

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 …

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 type 1a (PHP 1a) is characterized by hypocalcaemia and
hyperphosphatemia due to parathyroid hormone resistance, in association with the features …

Serum alkaline phosphatase (ALP) and its isoenzymes reflect bone metabolism: ALP
increases the ratio of inorganic phosphate to pyrophosphate systemically and facilitates …

Context: Obesity is a prominent feature of Albright hereditary osteodystrophy (AHO), a
disorder caused by heterozygous GNAS mutations that disrupt the stimulatory G protein α …

The function of the adult thyroid is regulated by thyroid-stimulating hormone (TSH), which
acts through a G protein–coupled receptor. Overactivation of the TSH receptor results in …

Pseudohypoparathyroidism (PHP) is a disorder of end-organ resistance primarily affecting
the actions of parathyroid hormone (PTH). Genetic defects associated with different forms of …