Associated Papers
Molecular Insights Into the Binding Dynamics of Transcription Factor TBR1 to T-box DNA Sequences.
Hartman R et al.
Journal of Molecular Biology, 2026
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 2025
Detailed phenotyping of Tbr1-2A-CreER knock-in mice demonstrates significant impacts on TBR1 protein levels and axon development.
Co M et al.
Autism Research : Official Journal of the International Society for Autism Research, 2025
Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.
Ćuk M et al.
Genes, 2025
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 2024
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
Sollis E et al.
Human Molecular Genetics, 2023
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS et al.
Nature Communications, 2022
Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development.
Co M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022
A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Qin Y et al.
Molecular Psychiatry, 2022
Protein synthesis as a modifiable target for autism-related dendritic spine pathophysiologies.
Lu MH et al.
The Febs Journal, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
Sapey-Triomphe LA et al.
Human Genomics, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Nambot S et al.
European Journal of Human Genetics : Ejhg, 2020
A TBR1-K228E Mutation Induces Tbr1 Upregulation, Altered Cortical Distribution of Interneurons, Increased Inhibitory Synaptic Transmission, and Autistic-Like Behavioral Deficits in Mice.
Yook C et al.
Frontiers in Molecular Neuroscience, 2019
Functional characterization of TBR1 variants in neurodevelopmental disorder.
den Hoed J et al.
Scientific Reports, 2018
The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.
McDermott JH et al.
European Journal of Medical Genetics, 2018
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
Brain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders.
Huang TN et al.
Frontiers in Neuroscience, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
De novo TBR1 mutations in sporadic autism disrupt protein functions.
Deriziotis P et al.
Nature Communications, 2014
Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality.
Huang TN et al.
Nature Neuroscience, 2014
Transcriptional dysregulation of neocortical circuit assembly in ASD.
Kwan KY
International Review of Neurobiology, 2013
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ et al.
Science (new York, N.y.), 2012