ReviewAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2009
The FMR1 gene and fragile X-associated tremor/ataxia syndrome.
Review in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 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.
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Who cites it
53 citing papers in PubMed, 113 citations in OpenAlex.
- Fragile X Syndrome in Adulthood: A Study of Electronic Health Records.American journal on intellectual and developmental disabilities · 2026Article
- Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases.Molecular neurobiology · 2024Review
- Neuropathological mRNA Expression Changes after Single Mild Traumatic Brain Injury in Pigs.Biomedicines · 2024Article
- Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS.International journal of molecular sciences · 2023Article
- Genetic and Environmental Contributions to Autism Spectrum Disorder Through Mechanistic Target of Rapamycin.Biological psychiatry global open science · 2022Review
- Neuropathology ofBrain communications · 2021Article
- The Role of Glutamate in Language and Language Disorders - Evidence from ERP and Pharmacologic Studies.Neuroscience and biobehavioral reviews · 2020Review
- Data-driven phenotype discovery ofScience advances · 2019Article
- Repeat-associated non-AUG (RAN) translation: insights from pathology.Laboratory investigation; a journal of technical methods and pathology · 2019Review
- Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer.Trends in cancer · 2018Review
- Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions.Human genetics · 2017Review
- Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.Reproductive biology and endocrinology : RB&E · 2017Article
- What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?The Clinical neuropsychologist · 2016Review
- mTOR, a Potential Target to Treat Autism Spectrum Disorder.CNS & neurological disorders drug targets · 2016Review
- Chromatin-Mediated Reversible Silencing of Sense-Antisense Gene Pairs in Embryonic Stem Cells Is Consolidated upon Differentiation.Molecular and cellular biology · 2015Article
- A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2014Article
- Association between macroorchidism and intelligence in FMR1 premutation carriers.American journal of medical genetics. Part A · 2014Article
- Regulation of mRNA transport, localization and translation in the nervous system of mammals (Review).International journal of molecular medicine · 2014Review
- Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development.Psychopharmacology · 2014Review
- Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The CGG-repeat present in the 5'UTR of the FMR1 gene is unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In fragile X patients, a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by silencing of the FMR1 gene. The gene product FMRP is involved in regulation of transport and translation of certain mRNA in the dendrite, thereby affecting synaptic plasticity. This is central to learning and memory processes. The absence of FMRP seen in FM is the cause of the mental retardation seen in fragile X patients. The premutation (PM) is defined as 55-200 CGGs. Female PM carriers are at risk of developing primary ovarian insufficiency. Recently it was discovered that elderly PM carriers might develop a progressive neurodegenerative disorder called fragile X-associated tremor/ataxia syndrome. Although arising from the mutations in the same gene, distinct mechanisms lead to fragile X syndrome (absence of FMRP) and FXTAS (toxic RNA gain of function). The pathogenic mechanisms thought to underlie these disorders are discussed, with a specific emphasis on FXTAS. This review gives insight on the implications of all possible repeat length categories seen in fragile X families.
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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.