Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone-resistance due to heterozygous Gαs disruption

Pseudohypoparathyroidism type-Ia (PHP-Ia), characterized by renal proximal tubular resistance to parathyroid hormone (PTH), results from maternal mutations of GNAS that lead to loss of Gαs activity. Gαs expression is paternally silenced in the renal proximal tubule, and this genomic event is critica...

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Autori principali: Turan, Serap, Fernandez-Rebollo, Eduardo, Aydin, Cumhur, Zoto, Teuta, Reyes, Monica, Bounoutas, George, Chen, Min, Weinstein, Lee S., Erben, Reinhold G., Marshansky, Vladimir, Bastepe, Murat
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3926912/
https://ncbi.nlm.nih.gov/pubmed/23956044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2070
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