ArticleFrontiers in genetics2018
Loss of the Intellectual Disability and Autism Gene
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
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Who cites it
16 citing papers in PubMed, 19 citations in OpenAlex.
- Structural characterization of the human CC2D1A fragment associated with non-syndromic intellectual disability (NSID).Bioscience reports · 2026Article
- Interactome Analysis of the CC2D1A Scaffold Reveals Novel Neuronal Interactions and a Postsynaptic Role.Molecular & cellular proteomics : MCP · 2026Article
- Single-nucleotide polymorphism analysis accurately predicts multiple impairments in hippocampal activity and memory performance in a murine model of idiopathic autism.Scientific reports · 2025Article
- Article
- Lgd regulates ESCRT-III complex accumulation at multivesicular endosomes to control intralumenal vesicle formation.Molecular biology of the cell · 2022Article
- UsingInternational journal of molecular sciences · 2022Article
- Article
- Loss of CC2D1A in Glutamatergic Neurons Results in Autistic-Like Features in Mice.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Article
- Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.Human genomics · 2021Review
- Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders.Journal of neuroscience research · 2021Review
- Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism.Neuromolecular medicine · 2020Article
- Conditional Deletion of CC2D1A Reduces Hippocampal Synaptic Plasticity and Impairs Cognitive Function through Rac1 Hyperactivation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability.Biological psychiatry · 2019Article
- YAP and TAZ RegulateFrontiers in molecular neuroscience · 2019Article
- CC2D1B Coordinates ESCRT-III Activity during the Mitotic Reformation of the Nuclear Envelope.Developmental cell · 2018Article
- Gastrodin Rescues Autistic-Like Phenotypes in Valproic Acid-Induced Animal Model.Frontiers in neurology · 2018Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold
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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.