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

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

22 Oct 2024

Abstract excerpt

BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus proved to be an effective method to detect epigenetic signatures compatible with FSHD. The present study aims at validating the employment of this method into clinical practice...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Inflammatory Myopathies and Dermatomyositis
Share to Muscle Physiology and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39438900
DOI: 10.1186/s13148-024-01747-2

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

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patientsPMID 39438900Read ↗

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD PatientsSemantic proximity Read ↗

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

The D4Z4caster DNA methylation signature identifies individuals at epigenetic risk for developing facioscapulohumeral muscular dystrophy (FSHD)Semantic proximity Read ↗

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.Semantic proximity Read ↗

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelinesSemantic proximity Read ↗

Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencingSemantic proximity Read ↗

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study.Semantic proximity Read ↗

SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.Semantic proximity Read ↗

Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular DystrophySemantic proximity Read ↗

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome MappingSemantic proximity Read ↗

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHDSemantic proximity Read ↗

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

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