Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome

Background: Mutations in the imprinted gene CDKN1C account for approximately 10% of Beckwith–Wiedemann syndrome (BWS) cases. Fibroblasts from BWS patients with loss of methylation (LOM) at the imprinting control region (ICR) KvDMR1 have reduced CDKN1C expression. Another group of BWS patients with d...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2005-08, Vol.42 (8), p.648-655
Hauptverfasser:	Diaz-Meyer, N, Yang, Y, Sait, S N, Maher, E R, Higgins, M J
Format:	Artikel
Sprache:	eng
Schlagworte:	Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome - genetics Binding sites Biological and medical sciences BWS Cardiology. Vascular system Cell cycle ChIP Chromatin Chromatin - ultrastructure chromatin immunoprecipitation Cyclin-Dependent Kinase Inhibitor p57 - genetics Cyclin-Dependent Kinase Inhibitor p57 - metabolism Deoxyribonucleic acid DNA DNA Methylation Down-Regulation Epigenetics epimutation Fibroblasts Gene Silencing General aspects. Genetic counseling Genes Genomic Imprinting Humans ICR imprinting imprinting control region Kinases LOI LOM loss of imprinting loss of methylation Medical genetics Medical sciences methylation methylation index Mutation Original Patients Promoter Regions, Genetic ribonuclease protection assay RPA
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!