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
The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control
region 1 (ICR1) located at chromosome 11p15. 5. This methylation-sensitive chromatin …

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

RL Poole, DJ Leith, LE Docherty, ME Shmela… - European journal of …, 2012 - nature.com
The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control
region 1 (ICR1) located at chromosome 11p15. 5. DNA methylation defects involving ICR1 …

A novel de novo point mutation of the OCT‐binding site in the IGF2/H19‐imprinting control region in a Beckwith–Wiedemann syndrome patient

K Higashimoto, K Jozaki, T Kosho… - Clinical …, 2014 - Wiley Online Library
The IGF2/H19‐imprinting control region (ICR1) functions as an insulator to methylation‐
sensitive binding of CTCF protein, and regulates imprinted expression of IGF2 and H19 in a …

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining …

J Beygo, V Citro, A Sparago… - Human molecular …, 2013 - academic.oup.com
Abstract At chromosome 11p15. 5, the imprinting centre 1 (IC1) controls the parent of origin-
specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target …

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome

R Nativio, A Sparago, Y Ito, R Weksberg… - Human molecular …, 2011 - academic.oup.com
Hyper-and hypomethylation at the IGF2-H19 imprinting control region (ICR) result in
reciprocal changes in IGF2-H19 expression and the two contrasting growth disorders …

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver–Russell Syndrome

W Abi Habib, F Brioude, S Azzi, J Salem… - Human …, 2017 - Wiley Online Library
The 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal and postnatal
growth. Silver–Russell syndrome (SRS) is characterized by fetal and postnatal growth …

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

K Delaval, A Wagschal, R Feil - Bioessays, 2006 - Wiley Online Library
Human chromosome 11p15 comprises two imprinted domains important in the control of
fetal and postnatal growth. Novel studies 1–3 establish that imprinting at one of these, the …

Role of CTCF Binding Sites in the Igf2/H19 Imprinting Control Region

PE Szabó, SHE Tang, FJ Silva… - Molecular and cellular …, 2004 - Taylor & Francis
A∼ 2.4-kb imprinting control region (ICR) regulates somatic monoallelic expression of the
Igf2 and H19 genes. This is achieved through DNA methylation-dependent chromatin …

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in …

W Abi Habib, S Azzi, F Brioude… - Human molecular …, 2014 - academic.oup.com
Isolated gain of methylation (GOM) at the IGF2/H19 imprinting control region 1 (ICR1)
accounts for about 10% of patients with BWS. A subset of these patients have genetic …

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
The reciprocal parent of origin-specific expression of H19 and IGF2 is controlled by the
H19/IGF2: IG-DMR (IC1), whose maternal allele is unmethylated and acts as a CTCF …