title: Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism.
authors.affiliation: Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, 02114 Boston, United States. Electronic address: HJUEPPNER@mgh.harvard.edu.
authors.forename: Harald
authors.initials: H
authors.lastname: Jüppner
mesh_terms: D002864:Chromogranins; D057890:Epigenomics; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D011547:Pseudohypoparathyroidism / Q000235:genetics* / Q000378:metabolism
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs
keywords: Albright hereditary osteodystrophy (AHO); Calcium; Empreinte; GNAS; Genetic disease; Imprinting; Maladie génétique; Méthylation du DNA parent-specifique; Ostéodystrophie héréditaire d’Albright (OAH); PTH; PTH/PTHrP receptor; PTHrP; Parent-specific DNA methylation; Phosphate; Protéine G stimulante (Gsα); Pseudohypoparathyroidism type Ia and Ib; Pseudohypoparathyroïdies de type Ia and Ib; Pseudopseudohypoparathyroidism; Pseudopseudohypoparathyroïdisme; Récepteur de PTH/PTHrP; Stimulatory G protein (Gsα); Syntaxin 16 (STX16); Syntaxine 16 (STX16); Voie de signalisation de l’AMPc; cAMP signaling pathway