Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

doi:10.1073/pnas.2505884122

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

Community

Back to search

Article

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Proceedings of the National Academy of Sciences of the United States of America - 26 Aug 2025

Ochoa Eguzkine, Zvetkova Ilona, Liv Lee Sunwoo, Takahashi Nozomi, Lan-Leung Benoit, Hobson Emma, Issa Mahmoud, Yngvadottir Bryndis, Docquier France, Rodger Fay, Foster-Hall Dounia, Clark Graeme, Toribio Ana, Martin Ezequiel, Bottolo Leonardo, Ferguson-Smith Anne C, Fischle Wolfgang, Constancia Miguel, Maher Eamonn R

Abstract excerpt

The investigation of congenital imprinting disorders (CIDs) provides opportunities to elucidate the molecular mechanisms and role of genomic imprinting in development and human disease. Beckwith-Wiedemann spectrum (BWSp) is a prototypic CID resulting from genetic and epigenetic alterations of imprinted genes at chromosome 11p15.5. In up to a quarter of individuals with BWSp, the epigenetic alterations are not...

Read the complete abstract on PubMed

Topics

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

Share to Beckwith-Wiedemann Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CCAAT-Enhancer-Binding Proteins

Share to Consanguinity

Share to DNA Methylation

Share to Epigenesis, Genetic

Share to Genomic Imprinting

Share to Multigene Family

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 40825131
DOI: 10.1073/pnas.2505884122
PMCID: PMC12403135

Genes

UHRF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.PMID 40825131Read ↗

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Semantic proximity Read ↗

Multilocus methylation defects in imprinting disordersSemantic proximity Read ↗

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disordersSemantic proximity Read ↗

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann Syndrome and Silver-Russell SyndromeSemantic proximity Read ↗

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.Semantic proximity Read ↗

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseasesSemantic proximity Read ↗

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.Semantic proximity Read ↗

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequencesSemantic proximity Read ↗

Epigenetics and human disease.Semantic proximity Read ↗

Investigation of Multilocus Imprinting Disturbance (MLID) in 101 Beckwith-Wiedemann Spectrum patientsSemantic proximity Read ↗

Molecular Findings in Beckwith–Wiedemann SyndromeSemantic proximity Read ↗

ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbanceSemantic proximity Read ↗

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