ArticleJournal of human genetics2010
Examination of FMR1 transcript and protein levels among 74 premutation carriers.
Article in Journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 66 citations in OpenAlex.
- Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women.Human reproduction (Oxford, England) · 2026Article
- A CRISPR mis-insertion in the Zic3 5'UTR inhibits in vivo translation and is predicted to result in formation of an mRNA stem-loop hairpin.Biology open · 2025Article
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Regulation of Bone Morphogenetic Protein Receptor Type II Expression byInternational journal of molecular sciences · 2024Article
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.Genes · 2024Article
- Review
- Review
- Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.Fertility and sterility · 2021Article
- Evidence for Three Subgroups of FemaleFrontiers in integrative neuroscience · 2021Article
- Dopaminergic Dysregulation in Syndromic Autism Spectrum Disorders: Insights From Genetic Mouse Models.Frontiers in neural circuits · 2021Review
- Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.Brain and cognition · 2020Article
- CRISPR to the Rescue: Advances in Gene Editing for theBrain sciences · 2019Review
- Article
- Curvilinear Association Between Language Disfluency andFrontiers in genetics · 2018Article
- Size and methylation mosaicism in males with Fragile X syndrome.Expert review of molecular diagnostics · 2017Article
- RNA toxicity and foci formation in microsatellite expansion diseases.Current opinion in genetics & development · 2017Review
- Review
- Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation.The Clinical neuropsychologist · 2016Article
- Differential increases of specific FMR1 mRNA isoforms in premutation carriers.Journal of medical genetics · 2015Article
- Distribution of AGG interruption patterns within nine world populations.Intractable & rare diseases research · 2014Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Fragile X-associated disorders are caused by a CGG trinucleotide repeat expansion in the 5'-untranslated region of the FMR1 gene. Expansion of the CGG trinucleotide repeats to >200 copies (that is, a full mutation) induces methylation of the FMR1 gene, with transcriptional silencing being the eventual outcome. Previous data have shown that FMR1 premutation carriers (individuals with 55-199 repeats) have increased FMR1 mRNA levels with decreased protein (fragile X mental retardation protein (FMRP)) levels. However, the point at which this translational inefficiency occurs, given the increased transcription mechanism, has not yet been explored and remains to be elucidated. We examined the repeat length group, FMR1 transcript and FMRP levels in 74 males with a wide range of repeat lengths using analysis of covariance to better characterize this association. Results showed that the mean FMRP level among carriers with 80-89 repeats was significantly higher than the mean levels among lower (54-79) and higher (90-120) premutation carriers, in spite of the increasing transcript level with repeat length. Taken together, these results suggest that the 80-89-repeat group may lead to different properties that increase the efficiency of translation compared with other premutation repeat size groups.
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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.