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The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis

Genetic defects of GNAS, the imprinted gene encoding the stimulatory G protein α-subunit, are responsible for multiple diseases. Abnormal GNAS imprinting causes pseudohypoparathyroidism type 1B (PHP1B), a prototype of mammalian end-organ hormone resistance. Hypomethylation at the maternally methylat...

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Detalles Bibliográficos
Autores principales:	Iwasaki, Yorihiro, Aksu, Cagri, Reyes, Monica, Ay, Birol, He, Qing, Bastepe, Murat
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104902/ https://www.ncbi.nlm.nih.gov/pubmed/36853809 http://dx.doi.org/10.1172/JCI167953

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