ArticleBiochimica et biophysica acta. Gene regulatory mechanisms2017
Altered expression of the FMR1 splicing variants landscape in premutation carriers.
Article in Biochimica et biophysica acta. Gene regulatory mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
17 citing papers in PubMed, 33 citations in OpenAlex.
- Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.Nature genetics · 2025Review
- Highly efficient clustering of long-read transcriptomic data with GeLuster.Bioinformatics (Oxford, England) · 2024Article
- Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene.Molecular neurobiology · 2023Article
- Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.Frontiers in neurology · 2022Review
- Differences in gene expression and variable splicing events of ovaries between large and small litter size in Chinese Xiang pigs.Porcine health management · 2021Article
- (Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology inInternational journal of molecular sciences · 2021Review
- Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.International journal of molecular sciences · 2021Review
- The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Molecular human reproduction · 2020Review
- The RNA-binding fragile-X mental retardation protein and its role beyond the brain.Biophysical reviews · 2020Review
- FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS).Scientific reports · 2020Article
- Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon.BMC genetics · 2020Article
- De Novo Clustering of Long-Read Transcriptome Data Using a Greedy, Quality Value-Based Algorithm.Journal of computational biology : a journal of computational molecular cell biology · 2020Article
- Quantifying the benefit offered by transcript assembly with Scallop-LR on single-molecule long reads.Genome biology · 2019Article
- Getting the Entire Message: Progress in Isoform Sequencing.Frontiers in genetics · 2019Review
- The Landscape ofFrontiers in genetics · 2019Article
- Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon.Nature communications · 2018Article
- Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers.Frontiers in genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. Approximately 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in FMR1 mRNA levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the FMR1 associated disorders observed in premutation carriers. The FMR1 gene undergoes alternative splicing and we have recently reported that the relative abundance of all FMR1 mRNA isoforms is significantly increased in premutation carriers. In this study, we characterized the transcriptional FMR1 isoforms distribution pattern in different tissues and identified a total of 49 isoforms, some of which observed only in premutation carriers and which might play a role in the pathogenesis of FXTAS. Further, we investigated the distribution pattern and expression levels of the FMR1 isoforms in asymptomatic premutation carriers and in those with FXTAS and found no significant differences between the two groups. Our findings suggest that the characterization of the expression levels of the different FMR1 isoforms is fundamental for understanding the regulation of the FMR1 gene as imbalance in their expression could lead to an altered functional diversity with neurotoxic consequences. Their characterization will also help to elucidating the mechanism(s) by which "toxic gain of function" of the FMR1 mRNA may play a role in FXTAS and/or in the other FMR1-associated conditions.
Indexed as
Identifiers
What OpenQuestion holds
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.