ReviewThe Journal of cell biology2010
The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.
Review in The Journal of cell biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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.
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Who cites it
29 citing papers in PubMed, 67 citations in OpenAlex.
- The Tug1 lncRNA locus is essential for male fertility.Genome biology · 2020Article
- 4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy.Genome research · 2019Article
- Long-read single-molecule maps of the functional methylome.Genome research · 2019Article
- Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.Human molecular genetics · 2017Article
- A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles.Stem cells translational medicine · 2016Article
- Roles for long non-coding RNAs in physiology and disease.Pflugers Archiv : European journal of physiology · 2016Review
- Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.Nature genetics · 2016Article
- Epigenetics and Human Disease.Cold Spring Harbor perspectives in biology · 2016Review
- Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.European journal of human genetics : EJHG · 2015Article
- Direct interplay between two candidate genes in FSHD muscular dystrophy.Human molecular genetics · 2015Article
- Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation.Annals of clinical and translational neurology · 2015Article
- The dynamic architectural and epigenetic nuclear landscape: developing the genomic almanac of biology and disease.Journal of cellular physiology · 2014Review
- Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Molecular and cellular biology · 2014Article
- Cancer-related genes in the transcription signature of facioscapulohumeral dystrophy myoblasts and myotubes.Journal of cellular and molecular medicine · 2014Article
- Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).American journal of physiology. Regulatory, integrative and comparative physiology · 2014Article
- DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.PloS one · 2014Article
- The intertwining of transposable elements and non-coding RNAs.International journal of molecular sciences · 2013Review
- The role of genetics in the establishment and maintenance of the epigenome.Cellular and molecular life sciences : CMLS · 2013Review
- Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).PLoS genetics · 2013Article
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
In humans, copy number variations (CNVs) are a common source of phenotypic diversity and disease susceptibility. Facioscapulohumeral muscular dystrophy (FSHD) is an important genetic disease caused by CNVs. It is an autosomal-dominant myopathy caused by a reduction in the copy number of the D4Z4 macrosatellite repeat located at chromosome 4q35. Interestingly, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness. Indeed, recent findings suggest that virtually all levels of epigenetic regulation, from DNA methylation to higher order chromosomal architecture, are altered at the disease locus, causing the de-regulation of 4q35 gene expression and ultimately 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.