Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

Context: Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, and studies in different...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2010-06, Vol.95 (6), p.3028-3038
Hauptverfasser:	Lebrun, M., Richard, N., Abeguilé, G., David, A., Dieux, A. Coëslier, Journel, H., Lacombe, D., Pinto, G., Odent, S., Salles, J. P., Taieb, A., Gandon-Laloum, S., Kottler, M. L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Biological and medical sciences Bone and Bones Bone growth Calcium metabolism Child Child, Preschool Choristoma Choristoma - genetics Choristoma - pathology Chromogranins Databases, Genetic DNA Methylation Endocrinopathies Feeding. Feeding behavior Female Fundamental and applied biological sciences. Psychology Genetic counseling Genetics Genomic Imprinting Genotype Growth rate GTP-Binding Protein alpha Subunits, Gs GTP-Binding Protein alpha Subunits, Gs - genetics Human health and pathology Humans Infant Life Sciences Male Medical sciences Mutation Mutation - genetics Mutation - physiology Ossification (ectopic) Osteogenesis Parathyroid Hormone Parathyroid Hormone - physiology Pediatrics Pedigree Phenotypes Polymorphism, Single Nucleotide Pseudohypoparathyroidism Pseudohypoparathyroidism - genetics Pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism - genetics Rare diseases RNA RNA - genetics Vertebrates: anatomy and physiology, studies on body, several organs or systems Vertebrates: endocrinology
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