Article
Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2014
Turan Serap, Fernandez-Rebollo Eduardo, Aydin Cumhur, Zoto Teuta, Reyes Monica, Bounoutas George, Chen Min, Weinstein Lee S, Erben Reinhold G, Marshansky Vladimir, Bastepe Murat
Abstract excerpt
Pseudohypoparathyroidism type-Ia (PHP-Ia), characterized by renal proximal tubular resistance to parathyroid hormone (PTH), results from maternal mutations of GNAS that lead to loss of α-subunit of the stimulatory G protein (Gαs) activity. Gαs expression is paternally silenced in the renal proximal tubule, and this genomic event is critical for the development of PTH resistance, as patients display impaired...
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