Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

In pseudohypoparathyroidism (PHP), PTH resistance results from impairment of signal transduction of G protein–coupled receptors caused by a deficiency of the Gsα‐cAMP signaling cascade due to diminished Gsα activity in maternally imprinted tissues. In PHP‐Ia, inactivating mutations of the GNAS gene...

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Bibliographic Details
Published in:	Journal of bone and mineral research Vol. 26; no. 8; pp. 1864 - 1870
Main Authors:	Zazo, Celia, Thiele, Susanne, Martín, Cesar, Fernandez‐Rebollo, Eduardo, Martinez‐Indart, Lorea, Werner, Ralf, Garin, Intza, Group, Spanish PHP, Hiort, Olaf, Perez de Nanclares, Guiomar
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-08-2011 Wiley
Subjects:	Adolescent Adult AHO PHENOTYPE Biological and medical sciences Child Child, Preschool Chromogranins Epigenesis, Genetic Erythrocyte Membrane - metabolism Female Fundamental and applied biological sciences. Psychology Genetic Loci - genetics GNAS Gsα PROTEIN GTP-Binding Protein alpha Subunits, Gs - genetics Humans Immunoblotting Infant Male METHYLATION DEFECTS Mutation - genetics PSEUDOHYPOPARATHYROIDISM Pseudohypoparathyroidism - genetics Skeleton and joints Vertebrates: osteoarticular system, musculoskeletal system Young Adult Endocrinopathy Human Gsα PROTEIN Red blood cell AHO PHENOTYPE Protein Genetic disease Osteoarticular system Blood cell Vertebrata Phenotype Mammalia Pseudohypoparathyroidism GNAS Locus Methylation METHYLATION DEFECTS
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