ArticleScientific reports2018
Functional characterization of TBR1 variants in neurodevelopmental disorder.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women.Diabetes & metabolism journal · 2025Pooled it
- Human neural stem cell-derived extracellular vesicles improve cognitive function following glioma chemoradiation therapy.Cancer letters · 2026Article
- Making multi-axis Gaussian graphical models scalable to millions of cells.Bioinformatics (Oxford, England) · 2026Article
- Advances in the molecular mechanisms of zinc-finger transcription factors in neurodevelopmental disorders.IBRO neuroscience reports · 2025Review
- BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Prenatal inflammation exacerbates hyperoxia-induced neonatal brain injury.Journal of neuroinflammation · 2025Article
- NovelGenes · 2025Article
- Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.Cell reports · 2024Article
- Review
- Sevoflurane Exposure in Neonates Perturbs the Expression Patterns of Specific Genes That May Underly the Observed Learning and Memory Deficits.International journal of molecular sciences · 2023Article
- Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.Human molecular genetics · 2023Article
- Shared and Distinct Functional Effects of Patient-SpecificThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Journal of clinical laboratory analysis · 2022Article
- Human Cerebral Organoid Implantation Alleviated the Neurological Deficits of Traumatic Brain Injury in Mice.Oxidative medicine and cellular longevity · 2021Article
- Review
- MicroRNA Expression Signature in Mild Cognitive Impairment Due to Alzheimer's Disease.Molecular neurobiology · 2020Article
- A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.Human genomics · 2020Article
- BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases.Bioscience reports · 2019Review
- Dysregulation of neuron differentiation in an autistic savant with exceptional memory.Molecular brain · 2019Article
- A TBR1-K228E Mutation InducesFrontiers in molecular neuroscience · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent screens of thousands of simplex families with sporadic ASD cases uncovered additional T-box variants in TBR1 but their etiological relevance is unclear. We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious. Furthermore, we characterized a putative interaction with BCL11A, a transcription factor that was recently implicated in a neurodevelopmental syndrome involving developmental delay and language deficits. Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.
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