ArticleAmerican journal of human genetics2000
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06957054 (Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects), which is not on this map. Cited by 435 papers, 1 of them a synthesis that pooled it.
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.
Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects
Who cites it
435 citing papers in PubMed, 1 synthesis or guideline pooled it, 767 citations in OpenAlex.
- L-acetylcarnitine for treating fragile X syndrome.The Cochrane database of systematic reviews · 2015Pooled it
- The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery.Stem cells translational medicine · 2014Trial
- Association betweenResearch square · 2026Article
- Aberrant Emotion-Cognition Integration ineNeuro · 2026Article
- DNA Methylation and Proteomic Profiling of Postmortem Brain Tissue Reveals Epigenetic Dysregulation and Neuroinflammatory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS).bioRxiv : the preprint server for biology · 2026Article
- The role of FMR1 mRNA structure on the efficiency of non-canonical translation of toxic polyglycine protein.Nucleic acids research · 2026Article
- MBNL proteins in health, disease, and therapeutic applications.Nucleic acids research · 2026Review
- The Tale of the Guanosine Tract in Repeat Expansion Disorders.Molecular neurobiology · 2026Review
- The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.Neurobiology of disease · 2026Article
- Article
- Parental report-based assessment of sleep problems and mental health in an unreferred cohort of children with a fragile X premutation.Frontiers in molecular neuroscience · 2026Article
- T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in maleFrontiers in molecular neuroscience · 2026Article
- Use of the Behavioral Dyscontrol Scale-2 (BDS-2) to measure executive dysfunction in FXTAS.Frontiers in molecular neuroscience · 2026Article
- Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome.Frontiers in molecular neuroscience · 2026Article
- Article
- Long-read sequencing reveals extensivebioRxiv : the preprint server for biology · 2025Article
- Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.Brain : a journal of neurology · 2025Article
- Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.Nature genetics · 2025Review
- MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia.Epigenetics & chromatin · 2025Article
- Premutation Females with preFXTAS.International journal of molecular sciences · 2025Article
375 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 at 3 institutions in 2 countries.
Funding
Abstract
Fragile-X syndrome is a trinucleotide-repeat-expansion disorder in which the clinical phenotype is believed to result from transcriptional silencing of the fragile-X mental retardation 1 (FMR1) gene as the number of CGG repeats exceeds approximately 200. For premutation alleles ( approximately 55-200 repeats), no abnormalities in FMR1-gene expression have been described, despite growing evidence of clinical involvement in premutation carriers. To address this (apparent) paradox, we have determined, for 16 carrier males (55-192 repeats), the relative levels of leukocyte FMR1 mRNA, by use of automated fluorescence-detection reverse transcriptase-PCR, and the percent of lymphocytes that are immunoreactive for FMR1 protein (FMRP). For some alleles with>100 repeats, there was a reduction in the number of FMRP-positive cells. Unexpectedly, FMR1 mRNA levels were elevated at least fivefold within this same range. No significant increase in FMR1 mRNA stability was observed in a lymphoblastoid cell line (160 repeats) derived from one of the carrier males, suggesting that the increased message levels are due to an increased rate of transcription. Current results support a mechanism of involvement in premutation carriers, in which reduced translational efficiency is at least partially compensated through increased transcriptional activity. Thus, diminished translational efficiency may be important throughout much of the premutation range, with a mechanistic switch occurring in the full-mutation range as the FMR1 gene is silenced.
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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.