TBR1

Publications

Den Hoed J et al. Functional characterization of TBR1 variants in neurodevelopmental disorder. Sci Rep. 2018;8:14279. PMID: 30250039.

Deriziotis P et al. De novo TBR1 mutations in sporadic autism disrupt protein functions. Nat Commun. 2014;5:4954. PMID: 25232744.

Fazel Darbandi S et al. Enhancing WNT Signaling Restores Cortical Neuronal Spine Maturation and Synaptogenesis in Tbr1 Mutants. JLR.Cell Rep. 2020;14;31(2):107495. PMID: 32294447.

Fazel Darbandi S et al. Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity. Neuron. 2018; 100(4): 831–845. PMID: 30318412.

Hevner RF et al. Tbr1 regulates differentiation of the preplate and layer 6. Neuron. 2001;29:353–66. PMID: 11239428.

Hevner RF et al. Transcription factors in glutamatergic neurogenesis: conserved programs in neocortex, cerebellum, and adult hippocampus. Neurosci Res. 2006;55:223–33. PMID: 16621079.

Hsueh YP et al. Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2. Nature. 2000;404:298–302. PMID: 10749215.

Huang TN et al. Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality. Nat Neurosci. 2014;17:240–7. PMID: 24441682

Nambot S et al. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020;28(6):770-782. PMID: 32005960.

Notwell JH et al. TBR1 regulates autism risk genes in the developing neocortex. Genome Res. 2016;26:1013–22. PMID: 27325115.

O’Roak BJ et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012;338:1619–22. PMID: 23160955.

O’Roak BJ et al. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun. 2014;5:5595. PMID: 25418537.

O’Roak BJ et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012;485:246–50. PMID: 22495309

Vegas N et al. Mutations in TBR1 gene leads to cortical malformations and intellectual disability. Eur J Med Genet. 2018;61:759–764. PMID: 30268909.