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
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
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
Sollis E et al.
Human Molecular Genetics, 2023
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI et al.
Journal of Neurochemistry, 2022
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
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
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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
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