ArticlePloS one2011
Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 30 citations in OpenAlex.
- Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.Journal of neurodevelopmental disorders · 2026Article
- Personalized Follow Up and Genetic Diagnosis Update ofInternational journal of molecular sciences · 2025Article
- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome.Scientific reports · 2023Article
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Understanding the Molecular Basis of Fragile X Syndrome Using Differentiated Mesenchymal Stem Cells.Iranian journal of child neurology · 2022Article
- Parental Reports on Early Autism Behaviors in Their Children with Fragile X Syndrome as a Function of Infant Feeding.Nutrients · 2021Article
- Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.The application of clinical genetics · 2021Review
- DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.International journal of molecular sciences · 2020Article
- FMR1 mRNA from full mutation alleles is associated with ABC-CScientific reports · 2020Article
- FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of theFrontiers in genetics · 2018Article
- Epigenetic memory via concordant DNA methylation is inversely correlated to developmental potential of mammalian cells.PLoS genetics · 2017Article
- The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.Human molecular genetics · 2016Article
- Human pluripotent stem cell models of Fragile X syndrome.Molecular and cellular neurosciences · 2016Review
- Bromodomain inhibitors regulate the C9ORF72 locus in ALS.Experimental neurology · 2015Article
- Emerging pharmacologic treatment options for fragile X syndrome.The application of clinical genetics · 2015Review
- Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.PLoS genetics · 2014Article
- Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development.Psychopharmacology · 2014Review
- Impaired activity-dependent neural circuit assembly and refinement in autism spectrum disorder genetic models.Frontiers in cellular neuroscience · 2014Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Variability among individuals in the severity of fragile X syndrome (FXS) is influenced by epigenetic methylation mosaicism, which may also be common in other complex disorders. The epigenetic signal of dense promoter DNA methylation is usually associated with gene silencing, as was initially reported for FMR1 alleles in individuals with FXS. A paradox arose when significant levels of FMR1 mRNA were reported for some males with FXS who had been reported to have predominately methylated alleles. We have used hairpin-bisufite PCR, validated with molecular batch-stamps and barcodes, to collect and assess double-stranded DNA methylation patterns from these previously studied males. These patterns enable us to distinguish among three possible forms of methylation mosaicism, any one of which could explain FMR1 expression in these males. Our data indicate that cryptic inter-cell mosaicism in DNA methylation can account for the presence of FMR1 mRNA in some individuals with FXS.
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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.