ArticleHuman genetics2005
DNA methylation and replication: implications for the "deletion hotspot" region of FMR1.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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.
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
12 citing papers in PubMed, 22 citations in OpenAlex.
- Mechanisms of theInternational journal of molecular sciences · 2022Review
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- The Metallome as a Link Between the "Omes" in Autism Spectrum Disorders.Frontiers in molecular neuroscience · 2021Review
- Mechanisms of genetic instability caused by (CGG)Nature structural & molecular biology · 2018Article
- Size and methylation mosaicism in males with Fragile X syndrome.Expert review of molecular diagnostics · 2017Article
- Modeling psychiatric disorders at the cellular and network levels.Molecular psychiatry · 2012Review
- The FMR1 gene and fragile X-associated tremor/ataxia syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009Review
- Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.The Journal of biological chemistry · 2009Review
- Microsatellite repeat instability and neurological disease.BioEssays : news and reviews in molecular, cellular and developmental biology · 2009Review
- Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.Experimental cell research · 2007Article
- Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.Nucleic acids research · 2006Article
- Educational Case: Fragile X Syndrome with Size Mosaicism.Academic pathologyArticle
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
No grant is acknowledged in the PubMed record.
Abstract
Expansion and hyper-methylation of a CGG repeat tract are the main causes of fragile X syndrome (FRAXA). In some rare instances, FRAXA patients harbor not only an expanded CGG tract, but a deletion encompassing the CGG repeat and flanking sequences as well. Through the use of an SV40 primate replication system, it was possible to determine that CpG methylation and DNA replication may actually mediate the formation of these rare events. Also, the genetically stabilizing AGG interruptions can be lost by replication-mediated CGG deletions.
Indexed as
Identifiers
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.