ArticleThe Clinical biochemist. Reviews2011
The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.
Article in The Clinical biochemist. Reviews, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed.
- Ythdf is a N6-methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila.The EMBO journal · 2021Article
- FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Genetics research · 2016Article
- Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.BMC pediatrics · 2015Article
- Complex X chromosome rearrangement associated with multiorgan autoimmunity.Molecular cytogenetics · 2015Article
- Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.The Journal of cell biology · 2014Article
- Neuregulin 1-induced AKT and ERK phosphorylation in patients with fragile X syndrome (FXS) and intellectual disability associated with obstetric complications.Journal of molecular neuroscience : MN · 2014Article
- The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.Molecular cell · 2014Article
- FMR1 CGG expansions: prevalence and sex ratios.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013Article
- Astrocytes and developmental plasticity in fragile X.Neural plasticity · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The fragile X mental retardation (FXMR) syndrome is one of the most frequent causes of mental retardation. Affected individuals display a wide range of additional characteristic features including behavioural and physical phenotypes, and the extent to which individuals are affected is highly variable. For these reasons, elucidation of the pathophysiology of this disease has been an important challenge to the scientific community. 1991 marks the year of the discovery of both the FMR1 gene mutations involved in this disease, and of their dynamic nature. Although a mouse model for the disease has been available for 16 years and extensive research has been performed on the FMR1 protein (FMRP), we still understand little about how the disease develops, and no treatment has yet been shown to be effective. In this review, we summarise current knowledge on FXMR with an emphasis on the technical challenges of molecular diagnostics, on its prevalence and dynamics among populations, and on the potential of screening for FMR1 mutations.
Identifiers
21912443PMC3157949What 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.