ArticleAmerican journal of human genetics1995
Quantitative comparison of FMR1 gene expression in normal and premutation alleles.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed.
- Review
- Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Intractable & rare diseases research · 2014Review
- Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome.Science (New York, N.Y.) · 2014Article
- Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2012Article
- Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Future neurology · 2009Article
- A quantitative ELISA assay for the fragile x mental retardation 1 protein.The Journal of molecular diagnostics : JMD · 2009Article
- The fragile X mental retardation protein inhibits translation via interacting with mRNA.Nucleic acids research · 2001Article
- Destabilization and mislocalization of myelin basic protein mRNAs in quaking dysmyelination lacking the QKI RNA-binding proteins.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2000Article
- Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.Nucleic acids research · 2000Article
- Reproductive and menstrual history of females with fragile X expansions.European journal of human genetics : EJHG · 2000Article
- Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.American journal of human genetics · 2000Article
- Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.American journal of human genetics · 2000Article
- Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.American journal of medical genetics · 1999Article
- Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.American journal of human genetics · 1999Article
- The fragile X syndrome.Journal of medical genetics · 1998Review
- Fragile X premutations are not a major cause of early menopause.American journal of human genetics · 1997Article
- Autistic behaviors among girls with fragile X syndrome.Journal of autism and developmental disorders · 1997Article
- Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1997Article
- Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.Journal of medical genetics · 1995Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
We report studies on FMR1 gene expression in cells derived from male premutation carriers. Transcription of FMR1 genes with CGG-repeat lengths within the premutation range was demonstrated to be normal. Repeat lengths are faithfully transcribed into FMR1 mRNAs, which have steady-state levels, as measured by RNase protection, similar to those of normal cells. Premutation transcripts also are shown to have normal turnover, with the FMR1 mRNA half-life estimated to be 12 h. Measurement of FMR1 protein was also found to be in similar abundance in normal and premutation cell lines. These data support the nonpenetrant status of premutation carriers of fragile X syndrome and suggest that the occasional case reports to the contrary may reflect either other causes, including low-level mosaicism for larger, methylated FMR1 alleles, or simply coincidence.
Indexed as
Identifiers
7825564PMC1801331What 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.