ArticleJournal of medical genetics1996
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 128 citations in OpenAlex.
- DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy.Skeletal muscle · 2025Review
- French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).Journal of neurology · 2024Review
- Facioscapulohumeral muscular dystrophy: the road to targeted therapies.Nature reviews. Neurology · 2023Review
- The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy.Biochimica et biophysica acta. Molecular basis of disease · 2022Review
- Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.Frontiers in genome editing · 2022Review
- Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.EMBO molecular medicine · 2021Review
- Losing DNA methylation at repetitive elements and breaking bad.Epigenetics & chromatin · 2021Review
- Promising Perspective to Facioscapulohumeral Muscular Dystrophy Treatment: Nutraceuticals and Phytochemicals.Current neuropharmacology · 2021Review
- Current Therapeutic Approaches in FSHD.Journal of neuromuscular diseases · 2021Review
- Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity.Human molecular genetics · 2020Article
- DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation.Human molecular genetics · 2020Article
- Review
- Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.Clinical genetics · 2020Review
- Protein kinase A activation inhibitsThe Journal of biological chemistry · 2018Article
- Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei.Skeletal muscle · 2018Article
- Genome engineering: a new approach to gene therapy for neuromuscular disorders.Nature reviews. Neurology · 2017Review
- Facioscapulohumeral Muscular Dystrophy.Continuum (Minneapolis, Minn.) · 2016Review
- PARP1 Differentially Interacts with Promoter region ofJournal of genetic syndromes & gene therapy · 2016Article
- Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage.Histochemistry and cell biology · 2016Article
- Genetic and epigenetic contributors to FSHD.Current opinion in genetics & development · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder transmitted in an autosomal dominant fashion. FSHD has been located by linkage analysis in the most distal part of chromosome 4q. The disease is associated with deletions within a 3.2 kb tandem repeat sequence, D4Z4. We have studied a family in which an abnormal chromosome 4 segregates through three generations in phenotypically normal subjects. This chromosome is the derivative of a (4;D or G) (q35;p12) translocation. Molecular analysis of the region 4q35 showed the absence of the segment ranging from the telomere to locus D4F104S1. Probe p13E-11 (D4F104S1), which detects polymorphic EcoRI fragments containing D4Z4, in Southern blot analysis showed only one allele in the carriers of the abnormal chromosome 4. Probe p13E-11 EcoRI fragments are contained in the subtelomeric region of 4q and their rearrangements associated with FSHD suggested that the gene responsible for the muscular dystrophy could be subject to a position effect variegation (PEV) because of its proximity to subtelomeric heterochromatin. The absence of the 4q telomeric region in our phenotypically normal cases indicates that haploinsufficiency of the region containing D4Z4 does not cause FSHD.
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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.