ArticleAmerican journal of human genetics2004
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
What it found
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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
68 citing papers in PubMed, 1 synthesis or guideline pooled it.
- p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy.Disease models & mechanisms · 2017Pooled it
- Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy.Neurology. Genetics · 2026Article
- Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy.Journal of human genetics · 2025Review
- 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
- IncreasedInternational journal of molecular sciences · 2025Article
- Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.Cold Spring Harbor perspectives in biology · 2025Review
- The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping.Orphanet journal of rare diseases · 2025Article
- Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism.Cell death & disease · 2023Article
- Molecular and Phenotypic Changes in FLExDUX4 Mice.Journal of personalized medicine · 2023Article
- Facioscapulohumeral muscular dystrophy: the road to targeted therapies.Nature reviews. Neurology · 2023Review
- Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.Cells · 2022Review
- The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy.Biochimica et biophysica acta. Molecular basis of disease · 2022Review
- Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects.Diagnostics (Basel, Switzerland) · 2021Article
- Genetic Approaches for the Treatment of Facioscapulohumeral Muscular Dystrophy.Frontiers in pharmacology · 2021Review
- Review
- Cellular and animal models for facioscapulohumeral muscular dystrophy.Disease models & mechanisms · 2020Review
- Review
- IntronicJournal of medical genetics · 2019Article
- Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele.Epigenetics & chromatin · 2018Article
- Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy.International journal of molecular sciences · 2018Review
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the D4Z4 repeat in the subtelomere of chromosome 4q. Two allelic variants of chromosome 4q (4qA and 4qB) exist in the region distal to D4Z4. Although both variants are almost equally frequent in the population, FSHD is associated exclusively with the 4qA allele. We identified three families with FSHD in which each proband carries two FSHD-sized alleles and is heterozygous for the 4qA/4qB polymorphism. Segregation analysis demonstrated that FSHD-sized 4qB alleles are not associated with disease, since these were present in unaffected family members. Thus, in addition to a contraction of D4Z4, additional cis-acting elements on 4qA may be required for the development of FSHD. Alternatively, 4qB subtelomeres may contain elements that prevent FSHD pathogenesis.
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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.