Article
Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA.
eLife - 17 Aug 2021
Park Ki-Sun, Rahat Beenish, Lee Hyung Chul, Yu Zu-Xi, Noeker Jacob, Mitra Apratim, Kean Connor M, Knutsen Russell H, Springer Danielle, Gebert Claudia M, Kozel Beth A, Pfeifer Karl
Abstract excerpt
Maternal loss of imprinting (LOI) at the H19/IGF2 locus results in biallelic IGF2 and reduced H19 expression and is associated with Beckwith--Wiedemann syndrome (BWS). We use mouse models for LOI to understand the relative importance of Igf2 and H19 mis-expression in BWS phenotypes. Here we focus on cardiovascular phenotypes and show that neonatal cardiomegaly is exclusively dependent on increased Igf2....
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