Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

PURPOSE: Beckwith–Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often associated with loss of methylation (LOM) of the imprinting center 2 (IC2) located in KCNQ1 intron 10. To unravel the etiological mechanisms un...

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Détails bibliographiques
Publié dans:Genet Med
Auteurs principaux: Valente, Federica Maria, Sparago, Angela, Freschi, Andrea, Hill-Harfe, Katherine, Maas, Saskia M., Frints, Suzanna Gerarda Maria, Alders, Marielle, Pignata, Laura, Franzese, Monica, Angelini, Claudia, Carli, Diana, Mussa, Alessandro, Gazzin, Andrea, Gabbarini, Fulvio, Acurzio, Basilia, Ferrero, Giovanni Battista, Bliek, Jet, Williams, Charles A., Riccio, Andrea, Cerrato, Flavia
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group US 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687501/
https://ncbi.nlm.nih.gov/pubmed/30635621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0416-7
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