ArticleNature communications2021
Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 38 citations in OpenAlex.
- Cerebral Cortex Morphometry and Relaxometry in Male Children With Fragile X Syndrome and Autism.Brain and behavior · 2026Article
- A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.European journal of human genetics : EJHG · 2025Article
- Single-nucleotide polymorphism analysis accurately predicts multiple impairments in hippocampal activity and memory performance in a murine model of idiopathic autism.Scientific reports · 2025Article
- Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum byBrain communications · 2025Article
- Involvement of sphingosine-1-phosphate receptor 1 in pain insensitivity in a BTBR mouse model of autism spectrum disorder.BMC medicine · 2024Article
- Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome.Biology of sex differences · 2024Article
- Insights into the structure and function of the hippocampus: implications for the pathophysiology and treatment of autism spectrum disorder.Frontiers in psychiatry · 2024Review
- Maternal Immune Activation Induced by Prenatal Lipopolysaccharide Exposure Leads to Long-Lasting Autistic-like Social, Cognitive and Immune Alterations in Male Wistar Rats.International journal of molecular sciences · 2023Article
- Impaired synaptic incorporation of AMPA receptors in a mouse model of fragile X syndrome.Frontiers in molecular neuroscience · 2023Article
- Cingulate protein arginine methyltransferases 1 regulates peripheral hypersensitivityFrontiers in molecular neuroscience · 2023Article
- Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family.Frontiers in genetics · 2023Article
- Folding Mechanism and Aggregation Propensity of the KH0 Domain of FMRP and Its R138Q Pathological Variant.International journal of molecular sciences · 2022Article
- RNF220 is an E3 ubiquitin ligase for AMPA receptors to regulate synaptic transmission.Science advances · 2022Article
- The schizophrenia-associated missense variant rs13107325 regulates dendritic spine density.Translational psychiatry · 2022Article
- Bidirectional regulation of synaptic SUMOylation by Group 1 metabotropic glutamate receptors.Cellular and molecular life sciences : CMLS · 2022Article
- Review
- Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome.International journal of molecular sciences · 2022Article
- FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- FXS causing missense mutations disrupt FMRP granule formation, dynamics, and function.PLoS genetics · 2022Article
- Combining affinity purification and mass spectrometry to define the network of the nuclear proteins interacting with the N-terminal region of FMRP.Frontiers in molecular biosciences · 2022Article
Corrections and comments
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Authors and funding
21 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and the best-described monogenic cause of autism. CGG-repeat expansion in the FMR1 gene leads to FMR1 silencing, loss-of-expression of the Fragile X Mental Retardation Protein (FMRP), and is a common cause of FXS. Missense mutations in the FMR1 gene were also identified in FXS patients, including the recurrent FMRP-R138Q mutation. To investigate the mechanisms underlying FXS caused by this mutation, we generated a knock-in mouse model (Fmr1
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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.