Slide Seminar - Part I: Benign Bone Tumors
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چکیده
FD is a genetic non-inherited condition caused by missense mutation in the gene GNAS1 on chromosome 20, that encodes the alpha subunit of the stimulatory G protein-coupled receptor, Gsα. The activating mutations occur post-zygotically, replacing the arginine residue amino acid with either a cystein or a histidine amino acid. The mutation selectively inhibits GTPase activity, resulting in constitutive stimulation of AMP-protein kinase A intracellular signal transduction pathways . The systemic manifestations of the mutated Gsα protein-coupled receptor complex include autonomous function in bone through parathyroid hormone receptor; in skin through melanocyte-stimulating hormone receptor; in ovaries through the follicle-stimulating hormone receptor; and in the thyroid and the pituitary gland, through the thyroid and growth hormone receptors respectively . FD is a somatic mosaic disorder with a broad spectrum of phenotypic heterogeneity. The extent of the disease is related to the stage at which the post-zygotic mutation in Gsα had occurred, whether during embryonic development or postnatally .
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