Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright Syndrome and fibrous dysplasia of bone

Patients with McCune-Albright syndrome (MAS), characterized primarily by hyperpigmented skin lesions, precocious puberty, and fibrous dyslasia of bone, carry postzygotic heterozygous mutations of GNAS causing constitutive cAMP signaling. GNAS encodes the α-subunit of the stimulatory G protein (Gsα),...

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Main Authors: Mariot, Virginie, Wu, Joy Y., Aydin, Cumhur, Mantovani, Giovanna, Mahon, Matthew J., Linglart, Agnès, Bastepe, Murat
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3021591/
https://ncbi.nlm.nih.gov/pubmed/20887824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2010.09.032
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