Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib

Maternal deletion of the NESP55 differentially methylated region (DMR) (delNESP55/ASdel3-4(m), delNAS(m)) from the GNAS locus in humans causes autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib(delNASm)), a disorder of proximal tubular parathyroid hormone (PTH) resistance associated with...

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Détails bibliographiques
Auteurs principaux: Fernández-Rebollo, Eduardo, Maeda, Akira, Reyes, Monica, Turan, Serap, Fröhlich, Leopold F., Plagge, Antonius, Kelsey, Gavin, Jüppner, Harald, Bastepe, Murat
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2012
Sujets:
Biological Sciences
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3340037/
https://ncbi.nlm.nih.gov/pubmed/22496590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1117608109
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