ArticleScientific reports2017
Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Systematic Review of Sleep Disturbances and Circadian Sleep Desynchronization in Autism Spectrum Disorder: Toward an Integrative Model of a Self-Reinforcing Loop.Frontiers in psychiatry · 2019Pooled it
- From injury to recovery: transcriptomic dynamics in zebrafish brain regeneration.Journal of translational medicine · 2025Article
- Genomic dissection of sleep archetypes in a large autism cohort.medRxiv : the preprint server for health sciences · 2025Article
- Circadian desynchrony in early life leads to enduring autistic-like behavioral changes in adulthood.Communications biology · 2024Article
- Sleep and Autism: Current Research, Clinical Assessment, and Treatment Strategies.Focus (American Psychiatric Publishing) · 2024Article
- Differential Expression of Circadian Clock Genes in the Bovine Neuroendocrine Adrenal System.Genes · 2023Article
- Circadian Regulation of the Neuroimmune Environment Across the Lifespan: From Brain Development to Aging.Journal of biological rhythms · 2023Review
- The trilateral interactions between mammalian target of rapamycin (mTOR) signaling, the circadian clock, and psychiatric disorders: an emerging model.Translational psychiatry · 2022Review
- Haploinsufficiency of a Circadian Clock GeneInternational journal of molecular sciences · 2022Article
- Comprehensive analysis of lncRNA-mRNAs co-expression network identifies potential lncRNA biomarkers in cutaneous squamous cell carcinoma.BMC genomics · 2022Article
- Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.International journal of molecular sciences · 2021Article
- Article
- Biological Timing and Neurodevelopmental Disorders: A Role for Circadian Dysfunction in Autism Spectrum Disorders.Frontiers in neuroscience · 2021Review
- The influence of circadian rhythms and aerobic glycolysis in autism spectrum disorder.Translational psychiatry · 2020Review
- Maternal Separation Early in Life Alters the Expression of GenesBehavioural neurology · 2020Article
- Role of Per3, a circadian clock gene, in embryonic development of mouse cerebral cortex.Scientific reports · 2019Article
- The circadian gene Nr1d1 in the mouse nucleus accumbens modulates sociability and anxiety-related behaviour.The European journal of neuroscience · 2018Article
- Species-Specific Changes in a Primate Transcription Factor Network Provide Insights into the Molecular Evolution of the Primate Prefrontal Cortex.Genome biology and evolution · 2018Article
- MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development.Acta neuropathologica communications · 2017Article
- Novel transcriptional networks regulated by CLOCK in human neurons.Genes & development · 2017Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In our previous study, we screened autism spectrum disorder (ASD) patients with and without sleep disorders for mutations in the coding regions of circadian-relevant genes, and detected mutations in several clock genes including NR1D1. Here, we further screened ASD patients for NR1D1 mutations and identified three novel mutations including a de novo heterozygous one c.1499 G > A (p.R500H). We then analyzed the role of Nr1d1 in the development of the cerebral cortex in mice. Acute knockdown of mouse Nr1d1 with in utero electroporation caused abnormal positioning of cortical neurons during corticogenesis. This aberrant phenotype was rescued by wild type Nr1d1, but not by the c.1499 G > A mutant. Time-lapse imaging revealed characteristic abnormal migration phenotypes in Nr1d1-deficient cortical neurons. When Nr1d1 was knocked down, axon extension and dendritic arbor formation of cortical neurons were also suppressed while proliferation of neuronal progenitors and stem cells at the ventricular zone was not affected. Taken together, Nr1d1 was found to play a pivotal role in corticogenesis via regulation of excitatory neuron migration and synaptic network formation. These results suggest that functional defects in NR1D1 may be related to ASD etiology and pathophysiology.
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