ReviewMutation research2008
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
Review in Mutation research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04004000 (An Open-Label Pilot Study of Losmapimod to Evaluate the Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments in Subjects With Facioscapulohumeral Muscular Dystrophy 1), which is not on this map. Cited by 38 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
An Open-Label Pilot Study of Losmapimod to Evaluate the Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments in Subjects With Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) With Extension
Who cites it
38 citing papers in PubMed, 56 citations in OpenAlex.
- Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis.Journal of medical genetics · 2025Article
- Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.Brain : a journal of neurology · 2025Article
- Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.Cold Spring Harbor perspectives in biology · 2025Review
- Influence ofInternational journal of molecular sciences · 2023Review
- Losing DNA methylation at repetitive elements and breaking bad.Epigenetics & chromatin · 2021Review
- Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.Clinical genetics · 2020Review
- Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.International journal of molecular sciences · 2020Article
- Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.International journal of molecular sciences · 2020Article
- AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD.JCI insight · 2018Article
- Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle.Human molecular genetics · 2018Review
- Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.Current stem cell reports · 2018Review
- Emerging roles of macrosatellite repeats in genome organization and disease development.Epigenetics · 2017Review
- Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.Antioxidants & redox signaling · 2015Review
- DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.European journal of human genetics : EJHG · 2014Article
- Cancer-related genes in the transcription signature of facioscapulohumeral dystrophy myoblasts and myotubes.Journal of cellular and molecular medicine · 2014Article
- Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Current molecular medicine · 2014Article
- Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.PLoS genetics · 2013Article
- Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.Current opinion in neurology · 2012Review
- Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.The American journal of pathology · 2012Article
- High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.Genes, chromosomes & cancer · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.