ReviewJournal of medical genetics1998
The fragile X syndrome.
Review in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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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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.
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Who cites it
23 citing papers in PubMed, 263 citations in OpenAlex.
- PGC-1α integrates insulin signaling with mitochondrial physiology and behavior in a Drosophila model of Fragile X Syndrome.npj metabolic health and disease · 2024Article
- Adenosine ATranslational psychiatry · 2021Article
- Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.BMC medical genetics · 2018Article
- Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function.Human molecular genetics · 2018Article
- Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.International journal of molecular sciences · 2017Review
- Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2016Article
- Functional and structural deficits at accumbens synapses in a mouse model of Fragile X.Frontiers in cellular neuroscience · 2015Article
- New X-chromosomal interactors of dFMRP regulate axonal and synaptic morphology of brain neurons inBiotechnology, biotechnological equipment · 2014Article
- Targeting the endocannabinoid system in the treatment of fragile X syndrome.Nature medicine · 2013Article
- Pathological plasticity in fragile X syndrome.Neural plasticity · 2012Review
- Evaluation of CAG repeat length of androgen receptor expressing cells in human testes showing different pictures of spermatogenic impairment.Histochemistry and cell biology · 2011Article
- Fragile X syndrome: the GABAergic system and circuit dysfunction.Developmental neuroscience · 2011Review
- Enhanced endocannabinoid signaling elevates neuronal excitability in fragile X syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Poly(ADP-ribose) glycohydrolase is a component of the FMRP-associated messenger ribonucleoparticles.The Biochemical journal · 2005Article
- Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2005Article
- Specific genetic disorders and autism: clinical contribution towards their identification.Journal of autism and developmental disorders · 2005Review
- Genetics 101: polymerase chain reaction.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2002Article
- Abnormal development of dendritic spines in FMR1 knock-out mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2001Article
- The fragile X mental retardation protein inhibits translation via interacting with mRNA.Nucleic acids research · 2001Article
- Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein.Molecular and cellular biology · 2000Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples of a "novel" class of disorders caused by a trinucleotide repeat expansion. In the normal population, the CGG repeat varies from six to 54 units. Affected subjects have expanded CGG repeats (>200) in the first exon of the FMR1 gene (the full mutation). Phenotypically normal carriers of the fragile X syndrome have a repeat in the 43 to 200 range (the premutation). The cloning of the FMR1 gene led to the characterisation of its protein product FMRP, encouraged further clinical studies, and opened up the possibility of more accurate family studies and fragile X screening programmes.
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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.