Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome

20 May 2021

Abstract excerpt

DNA methylation, chromatin-binding proteins, and DNA looping are common components regulating genomic imprinting which leads to parent-specific monoallelic gene expression. Loss of methylation (LOM) at the human imprinting center 2 (IC2) on chromosome 11p15 is the most common cause of the imprinting overgrowth disorder Beckwith-Wiedemann Syndrome (BWS). Here, we report a familial transmission of a 7.6 kB deletion...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34107024
DOI: 10.1093/nar/gkab475

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactomePMID 34107024Read ↗

Imprinting disruption of the <i>CDKN1C</i>/<i>KCNQ1OT1</i> domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancerSemantic proximity Read ↗

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.Semantic proximity Read ↗

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.Semantic proximity Read ↗

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusSemantic proximity Read ↗

Chromosome-wide analysis of parental allele-specific chromatin and DNA methylation.Semantic proximity Read ↗

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.Semantic proximity Read ↗

Expanded map of genomic imprinting reveals insight into human diseaseSemantic proximity Read ↗

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.Semantic proximity Read ↗

Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with Multi-Locus Imprinting DisturbancesSemantic proximity Read ↗

Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprintingSemantic proximity Read ↗

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.