ReviewFrontiers in genetics2015
Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.
Review in Frontiers in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 35 citations in OpenAlex.
- When R-Loops Go Awry: Genome Instability and Neurological Diseases.The European journal of neuroscience · 2026Review
- Article
- Tandem repeat disorders: from diagnosis to emerging therapeutic strategies.Encephalitis (Seoul, Korea) · 2025Article
- Reduced Respiratory Sinus Arrhythmia in Infants with theInternational journal of molecular sciences · 2025Article
- Social Communication Delay in an Unbiased Sample of Preschoolers With theJournal of speech, language, and hearing research : JSLHR · 2024Article
- Epigenetic insights into Fragile X Syndrome.Frontiers in cell and developmental biology · 2024Review
- Abnormal phase separation of biomacromolecules in human diseases.Acta biochimica et biophysica Sinica · 2023Review
- Native functions of short tandem repeats.eLife · 2023Article
- Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.Journal of neurodevelopmental disorders · 2022Article
- Molecular mechanisms underlying nucleotide repeat expansion disorders.Nature reviews. Molecular cell biology · 2021Review
- DNA Methylation, Mechanisms ofBiomolecules · 2021Review
- The RNA-binding fragile-X mental retardation protein and its role beyond the brain.Biophysical reviews · 2020Review
- Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.Human genetics · 2020Article
- Mrc1 and Tof1 prevent fragility and instability at long CAG repeats by their fork stabilizing function.Nucleic acids research · 2019Article
- Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome.Frontiers in genetics · 2019Review
- R-loop generation during transcription: Formation, processing and cellular outcomes.DNA repair · 2018Review
- A novel mode for transcription inhibition mediated by PNA-induced R-loops with a model in vitro system.Biochimica et biophysica acta. Gene regulatory mechanisms · 2018Article
- Targeted Reactivation ofFrontiers in molecular neuroscience · 2018Article
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
- The prospects of CRISPR-based genome engineering in the treatment of neurodegenerative disorders.Therapeutic advances in neurological disorders · 2018Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus. The repeat responsible for disease pathology in the fragile X-related disorders is CGG/CCG and the repeat tract is located in the 5' UTR of the FMR1 gene, whose protein product FMRP, is important for the proper translation of dendritic mRNAs in response to synaptic activation. There are two different pathological FMR1 allele classes that are distinguished only by the number of repeats. Premutation alleles have 55-200 repeats and confer risk of fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Full mutation alleles on the other hand have >200 repeats and result in fragile X syndrome, a disorder that affects learning and behavior. Different symptoms are seen in carriers of premutation and full mutation alleles because the repeat number has paradoxical effects on gene expression: Epigenetic changes increase transcription from premutation alleles and decrease transcription from full mutation alleles. This review will cover what is currently known about the mechanisms responsible for these changes in FMR1 expression and how they may relate to other Repeat Expansion Diseases that also show repeat-mediated changes in gene expression.
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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.