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

ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.

Biomolecules - 28 Nov 2023

Verma Ankit, Poondi Krishnan Varsha, Cecere Francesco, D'Angelo Emilia, Lullo Vincenzo, Strazzullo Maria, Selig Sara, Angelini Claudia, Matarazzo Maria R, Riccio Andrea

Abstract excerpt

Parent-of-origin-dependent gene expression of a few hundred human genes is achieved by differential DNA methylation of both parental alleles. This imprinting is required for normal development, and defects in this process lead to human disease. Induced pluripotent stem cells (iPSCs) serve as a valuable tool for in vitro disease modeling. However, a wave of de novo DNA methylation during reprogramming of iPSCs...

Read the complete abstract on PubMed

Topics

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

Share to DNA (Cytosine-5-)-Methyltransferases
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenetics and DNA Methylation

Share to Genetic Syndromes and Imprinting

Share to Genomic Imprinting

Share to Immunologic Deficiency Syndromes

Share to Induced Pluripotent Stem Cells

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 38136588
DOI: 10.3390/biom13121717
PMCID: PMC10741953

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.PMID 38136588Read ↗

Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cellsSemantic proximity Read ↗

The rescue of epigenomic abnormalities in ICF1 patient iPSCs following <i>DNMT3B</i> correction is incomplete at a residual fraction of H3K4me3-enriched regionsSemantic proximity Read ↗

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.Semantic proximity Read ↗

ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.Semantic proximity Read ↗

A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiencySemantic proximity Read ↗

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.Semantic proximity Read ↗

A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.Semantic proximity Read ↗

Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.Semantic proximity Read ↗

Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.Semantic proximity Read ↗

Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction.Semantic proximity Read ↗

DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome.Semantic proximity Read ↗

TET3 protects the Dlk1-Dio3 Imprinted Locus from DNA hypomethylation during adult NSC ReprogrammingSemantic proximity Read ↗

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