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
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
Sollis E et al.
Human Molecular Genetics, 2023
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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
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
25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Neale BM et al.
Nature, 2012
22495311 (PubMed )
Supplement: NIHMS361899-supplement-2.xls › De_Novo_Mutations
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