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Keywords: Kcnq1ot1
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Journal Articles
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Journal:
Disease Models & Mechanisms
Dis Model Mech (2020) 13 (5): dmm044123.
Published: 26 May 2020
.... This Review focuses on how the biological findings obtained from innovative mouse models explain the clinical features of BWS and SRS. The Cdkn1c/Kcnq1ot1 locus is primarily regulated by the lncRNA Kcnq1ot1 . The Kcnq1ot1 promoter resides within KvDMR1, which is methylated on the maternal allele...