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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group US 2019
Pynciau:
Article
Mynediad Ar-lein: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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