Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction

Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (PTH) resistance and GNAS epigenetic defects while P...

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Veröffentlicht in:	PloS one 2012-06, Vol.7 (6), p.e38579-e38579
Hauptverfasser:	Izzi, Benedetta, Francois, Inge, Labarque, Veerle, Thys, Chantal, Wittevrongel, Christine, Devriendt, Koen, Legius, Eric, Van den Bruel, Annick, D'Hooghe, Marc, Lambrechts, Diether, de Zegher, Francis, Van Geet, Chris, Freson, Kathleen
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Biocompatibility Biology Chromogranins Correlation analysis CpG islands Defects Diabetes Disorders DNA methylation DNA Methylation - genetics Epigenetic inheritance Epigenetics Ethics Fibrous Dysplasia, Polyostotic - genetics Genes Genetic aspects Genomic imprinting Genotype & phenotype GNAS protein GRB10 Adaptor Protein - genetics GTP-Binding Protein alpha Subunits, Gs - genetics Hormones Humans Imprinting Insulin-like growth factor II Insulin-Like Growth Factor II - genetics Medicine Methylation Mutation Nuclear Proteins - genetics Osteodystrophy Parathyroid hormone Parathyroid hormones Patients Pediatrics Phenotype Platelets Pseudohypoparathyroidism Regulation Signaling Studies
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