Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1

A Poplinski, F Tüttelmann, D Kanber… - … journal of andrology, 2010 - Wiley Online Library
… at IGF2/H19 ICR1 and MEST, with aberrant MEST methylation being a strong indicator for
sperm quality. The male germ cell thus represents a potential source for aberrant epigenetic …

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver–Russell syndrome

K Kannenberg, C Urban, G Binder - Clinical genetics, 2012 - Wiley Online Library
… an ICR1 hypomethylation at the IGF2/H19 locus at 11p15 showed a higher susceptibility to
aberrant DNA methylation … causes aberrant methylation in these children only affects the IGF2/…

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

S Tabano, P Colapietro, I Cetin, FR Grati, S Zanutto… - Epigenetics, 2010 - Taylor & Francis
… (1) IcR1 methylation status is a necessary and sufficient condition to drive the imprinting of
IGF2 and H19aberrant methylation of MEST and IGF2/ H19 ICR1. Int J Androl 2009; In press. …

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

H Fryssira, S Amenta, D Kanber, C Sofocleous… - BMC medical …, 2015 - Springer
… Gene dosage and methylation of the H19/ICR1-DMR/IGF2 and ICR2 on … patient methylation
of the IGF2 DMR0 is slightly changed to hypomethylation. The fact that aberrant methylation

IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome

K Kannenberg, K Weber, C Binder, C Urban… - Clinical …, 2012 - Springer
… the degree of ICR1 hypomethylation within the IGF2/H19 locus. … normal methylation or defective
repair of aberrant methylation… The methylation of the ICR2 within the IGF2/H19 locus was …

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

S Azzi, V Steunou, J Tost, S Rossignol… - Journal of Medical …, 2015 - jmg.bmj.com
… differentially methylated regions (DMR) are located at the H19 promoter (H19DMR) and
two in the IGF2 gene (DMR0 and DMR2), respectively. Loss of imprinting at the IGF2/ICR1/H19

Epigenetic regulation of the Igf2/H19 gene cluster

M Nordin, D Bergman, M Halje, W Engström… - Cell …, 2014 - Wiley Online Library
H19 ICR1 is required for H19 transcription and to prevent downstream enhancers from
accessing Igf2 promoters on the maternal chromosome, and that ICR1… genetic aberration in BWS. …

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth …

J Demars, ME Shmela, S Rossignol… - Human molecular …, 2010 - academic.oup.com
… DNA methylation defects involving the ICR1 H19/IGF2 domain … Wiedemann syndrome (maternal
ICR1 gain of methylation in 10% … Aberrant genomic imprinting of the 11p15 region has a …

The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model

A Freschi, R Del Prete, L Pignata… - Human Molecular …, 2021 - academic.oup.com
… of origin-specific expression of H19 and IGF2 is controlled by the H19/IGF2:IG-DMR (IC1), …
These genetic mutations result in aberrant DNA methylation, deregulation of IGF2/H19 and …

Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia

DK Bourque, L Avila, M Penaherrera, P Von Dadelszen… - Placenta, 2010 - Elsevier
… The goal of the present study is to assess the role of aberrant DNA methylation associated
with imprinted genes, particularly involving ICR1 and ICR2 within 11p15.5, in human …