Ontology highlight
ABSTRACT:
SUBMITTER: Freschi A
PROVIDER: S-EPMC5839592 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Freschi Andrea A Hur Stella K SK Valente Federica Maria FM Ideraabdullah Folami Y FY Sparago Angela A Gentile Maria Teresa MT Oneglia Andrea A Di Nucci Diego D Colucci-D'Amato Luca L Thorvaldsen Joanne L JL Bartolomei Marisa S MS Riccio Andrea A Cerrato Flavia F
PLoS genetics 20180222 2
Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 Imprinting Control region (IC1) result in these diseases are undefined. To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and now replaced the wildtype with a mutant IC1 identified in the overgrowth-associated B ...[more]