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

SMCHD1 is involved in de novo methylation of the DUX4 -encoding D4Z4 macrosatellite

3 Jan 2019

Abstract excerpt

The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for the majority of methylated CGs. DNA methylation is altered in a number of diseases including those linked to mutations in factors that modify chromatin. Among them, SMCHD1 (Structural Maintenance of Chromosomes...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Anomalies and Fetal Surgery
Share to Congenital heart defects research
Share to Congenital limb and hand anomalies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30698748
DOI: 10.1093/nar/gkz005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SMCHD1 is involved in de novo methylation of the DUX4 -encoding D4Z4 macrosatellitePMID 30698748Read ↗

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.Semantic proximity Read ↗

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndromeSemantic proximity Read ↗

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.Semantic proximity Read ↗

SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2Semantic proximity Read ↗

D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohortsSemantic proximity Read ↗

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophySemantic proximity Read ↗

Relating SMCHD1 structure to its function in epigenetic silencing.Semantic proximity Read ↗

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.Semantic proximity Read ↗

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.Semantic proximity Read ↗

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.Semantic proximity Read ↗

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.Semantic proximity Read ↗

The Epigenetic Regulator SMCHD1 in Development and Disease.Semantic proximity Read ↗

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