ReviewBiochimica et biophysica acta2009
FMR1: a gene with three faces.
Review in Biochimica et biophysica acta, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 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
67 citing papers in PubMed, 161 citations in OpenAlex.
- Distance delivery of a spoken language intervention for school-aged and adolescent boys with fragile X syndrome.Developmental neurorehabilitation · 2018Trial
- Characterization and visualization of tandem repeats at genome scale.Nature biotechnology · 2024Article
- Readers of RNA Modification in Cancer and Their Anticancer Inhibitors.Biomolecules · 2024Review
- Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.Science advances · 2022Article
- Longitudinal PET studies of mGluR5 in FXS using an FMR1 knockout mouse model.Translational neuroscience · 2022Article
- GC-rich repeat expansions: associated disorders and mechanisms.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2021Article
- Transcriptome Analyses Identify Potential Key microRNAs and Their Target Genes Contributing to Ovarian Reserve.International journal of molecular sciences · 2021Article
- The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.Brain : a journal of neurology · 2021Article
- Premature Ovarian Insufficiency: Past, Present, and Future.Frontiers in cell and developmental biology · 2021Review
- Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.American journal of human genetics · 2020Article
- Neuronal BC RNA Transport Impairments Caused by Systemic Lupus Erythematosus Autoantibodies.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- CRISPR to the Rescue: Advances in Gene Editing for theBrain sciences · 2019Review
- Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.Journal of community genetics · 2019Article
- Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.Human molecular genetics · 2017Article
- The effects of prenatal H1N1 infection at E16 on FMRP, glutamate, GABA, and reelin signaling systems in developing murine cerebellum.Journal of neuroscience research · 2017Article
- Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.Journal of assisted reproduction and genetics · 2017Review
- Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Article
- Review
- A Spoken-Language Intervention for School-Aged Boys With Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2016Article
- Low Levels of HDL in Fragile X Syndrome Patients.Lipids · 2016Article
7 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
2 authors at 2 institutions in 1 country.
Funding
Abstract
The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and of translation of target mRNAs at the synapse. FXS is seen as a loss of function disorder. POI and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the FMR1 gene in these disorders is discussed.
Indexed as
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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.