ArticleCurrent genomics2011
Fragile x syndrome.
Article in Current genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 83 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Safety and Tolerability of CTH120, First-in-human Phase I Study Encompassing Three Parts: Single and Multiple Ascending Doses and Potential Food Interaction
Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects
Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome
Who cites it
83 citing papers in PubMed, 2 syntheses or guidelines pooled it, 152 citations in OpenAlex.
- Barriers and Facilitators to Participation in Psychosocial Research for Adults With Intellectual Disabilities: A Systematic Review.Journal of applied research in intellectual disabilities : JARID · 2026Pooled it
- Pooled it
- A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.Brain sciences · 2025Review
- Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations.Human molecular genetics · 2025Article
- Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria.Clinical genetics · 2025Article
- Exploring the Interplay of Genetics and Nutrition in the Rising Epidemic of Obesity and Metabolic Diseases.Nutrients · 2024Review
- A Two-Hit Approach Inducing Flurothyl Seizures in Fmr1 Knockout Mice Impacts Anxiety and Repetitive Behaviors.Brain sciences · 2024Article
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?Trends in neurosciences · 2024Review
- Adiponectin rescues synaptic plasticity in the dentate gyrus of a mouse model of Fragile X Syndrome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Article
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Genes · 2024Review
- Effects of Soy Protein Isolate on Fragile X Phenotypes in Mice.Nutrients · 2024Article
- Behavioral, neurotransmitter and transcriptomic analyses in male and femaleFrontiers in behavioral neuroscience · 2024Article
- Androgyny and atypical sensory sensitivity associated with savant ability: a comparison between Klinefelter syndrome and sexual minorities assigned male at birth.Frontiers in child and adolescent psychiatry · 2024Article
- Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess.Frontiers in endocrinology · 2024Review
- Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome.Frontiers in cellular neuroscience · 2024Review
- Longitudinal follow-up of metformin treatment in Fragile X Syndrome.Frontiers in psychology · 2024Article
- Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.Cells · 2023Article
- Sports Games and Motor Skills in Children, Adolescents and Youth with Intellectual Disabilities.Children (Basel, Switzerland) · 2023Review
- "Corp-Osa-Mente", a Combined Psychosocial-Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study.Brain sciences · 2023Article
- Influence of Gestational Chlorpyrifos Exposure on ASD-like Behaviors in an fmr1-KO Rat Model.Molecular neurobiology · 2022Article
23 more citing papers are in PubMed but not listed here.
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 at 1 institution in 1 country.
Funding
Abstract
Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (>200) on the promotor region of the fragile X mental retardation 1 gene (FMR1). As a result, the promotor region often becomes methylated which leads to a deficiency or absence of the FMR1 protein (FMRP). Common characteristics of FXS include mild to severe cognitive impairments in males but less severe cognitive impairment in females. Physical features of FXS include an elongated face, prominent ears, and post-pubertal macroorchidism. Severe obesity in full mutation males is often associated with the Prader-Willi phenotype (PWP) which includes hyperphagia, lack of satiation after meals, and hypogonadism or delayed puberty; however, there is no deletion at 15q11-q13 nor uniparental maternal disomy. Herein, we discuss the molecular mechanisms leading to FXS and the Prader-Willi phenotype with an emphasis on mouse FMR1 knockout studies that have shown the reversal of weight increase through mGluR antagonists. Finally, we review the current medications used in treatment of FXS including the atypical antipsychotics that can lead to weight gain and the research regarding the use of targeted treatments in FXS that will hopefully have a significantly beneficial effect on cognition and behavior without weight gain.
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.