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

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.

Clinical genetics - 1 Mar 2013

Bögershausen N, Bruford E, Wollnik B

Abstract excerpt

To unravel the system of epigenetic control of transcriptional regulation is a fascinating and important scientific pursuit. Surprisingly, recent successes in gene identification using high-throughput sequencing strategies showed that, despite their ubiquitous role in transcriptional control, dysfunction of chromatin-modifying enzymes can cause very specific human developmental phenotypes. An intriguing example...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Face
Share to Hematologic Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone-Lysine N-Methyltransferase

Share to Histones

Share to Neoplasm Proteins

Share to Terminology as Topic

Share to Vestibular Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 23130995
DOI: 10.1111/cge.12050
PMCID: PMC3597981

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.PMID 23130995Read ↗

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.Semantic proximity Read ↗

Histone-modifying enzymes: regulators of developmental decisions and drivers of human disease.Semantic proximity Read ↗

Epigenetic Regulatory Enzymes: mutation Prevalence and Coexistence in Cancers.Semantic proximity Read ↗

KMT2A: Umbrella Gene for Multiple Diseases.Semantic proximity Read ↗

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.Semantic proximity Read ↗

[Kabuki syndrome: Update and review].Semantic proximity Read ↗

Dissecting KMT2D missense mutations in Kabuki syndrome patients.Semantic proximity Read ↗

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domainsSemantic proximity Read ↗

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.Semantic proximity Read ↗

Characterizing the molecular impact of<i>KMT2D</i>variants on the epigenetic and transcriptional landscapes in Kabuki SyndromeSemantic proximity Read ↗

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.Semantic proximity Read ↗

EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROMESemantic proximity Read ↗

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