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414 results

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Pou4f1-Tbr1 transcriptional cascade controls the formation of Jam2-expressing retinal ganglion cells.
Kiyama T, Altay HY, Badea TC, Mao CA. Kiyama T, et al. Front Ophthalmol (Lausanne). 2023;3:1175568. doi: 10.3389/fopht.2023.1175568. Epub 2023 May 18. Front Ophthalmol (Lausanne). 2023. PMID: 38469155 Free PMC article.
Previously, we have discovered that T-box transcription factor T-brain 1 (Tbr1) is expressed in J-RGCs. We further found that Tbr1 is essential for the expression of Jam2, and Tbr1 regulates the formation and the dendritic morphogenesis of J-RGCs. ...We showe …
Previously, we have discovered that T-box transcription factor T-brain 1 (Tbr1) is expressed in J-RGCs. We further found that Tbr1 …
Tbr1 Misexpression Alters Neuronal Development in the Cerebral Cortex.
Crespo I, Pignatelli J, Kinare V, Méndez-Gómez HR, Esgleas M, Román MJ, Canals JM, Tole S, Vicario C. Crespo I, et al. Mol Neurobiol. 2022 Sep;59(9):5750-5765. doi: 10.1007/s12035-022-02936-x. Epub 2022 Jul 4. Mol Neurobiol. 2022. PMID: 35781633 Free PMC article.
Interestingly, Tbr1 upregulation has also been related to the occurrence of ASD-like symptoms, although limited studies have addressed the effect of increased Tbr1 levels during neocortical development. ...Hence, genetic changes that provoke ectopic Tbr1 upre …
Interestingly, Tbr1 upregulation has also been related to the occurrence of ASD-like symptoms, although limited studies have addresse …
Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development.
Co M, Barnard RA, Jahncke JN, Grindstaff S, Fedorov LM, Adey AC, Wright KM, O'Roak BJ. Co M, et al. J Neurosci. 2022 Sep 14;42(37):7166-7181. doi: 10.1523/JNEUROSCI.0409-22.2022. Epub 2022 Aug 9. J Neurosci. 2022. PMID: 35944998 Free PMC article.
The frameshift patient mutation A136PfsX80 (A136fs) caused reduced TBR1 protein in cortex similar to Tbr1 KO, while the missense patient mutation K228E caused significant TBR1 upregulation. ...To improve the modeling of TBR1-related conditions over cur …
The frameshift patient mutation A136PfsX80 (A136fs) caused reduced TBR1 protein in cortex similar to Tbr1 KO, while the missen …
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, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study; Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. Nambot S, et al. Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. Eur J Hum Genet. 2020. PMID: 32005960 Free PMC article. Review.
Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. ...We hope this work will help g …
Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical re …
Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity.
Fazel Darbandi S, Robinson Schwartz SE, Qi Q, Catta-Preta R, Pai EL, Mandell JD, Everitt A, Rubin A, Krasnoff RA, Katzman S, Tastad D, Nord AS, Willsey AJ, Chen B, State MW, Sohal VS, Rubenstein JLR. Fazel Darbandi S, et al. Neuron. 2018 Nov 21;100(4):831-845.e7. doi: 10.1016/j.neuron.2018.09.027. Epub 2018 Oct 11. Neuron. 2018. PMID: 30318412 Free PMC article.
Restoring expression of Wnt7b largely rescues the synaptic deficit in Tbr1(layer6) mutant neurons. Furthermore, Tbr1(layer6) heterozygotes have increased anxiety-like behavior, a phenotype seen ASD. Integrating TBR1 chromatin immunoprecipitation sequencing (C …
Restoring expression of Wnt7b largely rescues the synaptic deficit in Tbr1(layer6) mutant neurons. Furthermore, Tbr1(layer6) h …
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
Sollis E, den Hoed J, Quevedo M, Estruch SB, Vino A, Dekkers DHW, Demmers JAA, Poot R, Deriziotis P, Fisher SE. Sollis E, et al. Hum Mol Genet. 2023 Apr 20;32(9):1497-1510. doi: 10.1093/hmg/ddac311. Hum Mol Genet. 2023. PMID: 36579832 Free PMC article.
TBR1 has been previously shown to interact with a small number of transcription factors and co-factors also involved in NDDs (including CASK, FOXP1/2/4 and BCL11A), suggesting that the wider TBR1 interactome may have a significant bearing on normal and abnormal brai …
TBR1 has been previously shown to interact with a small number of transcription factors and co-factors also involved in NDDs (includi …
LiCl treatment leads to long-term restoration of spine maturation and synaptogenesis in adult Tbr1 mutants.
Fazel Darbandi S, Nelson AD, Pai EL, Bender KJ, Rubenstein JLR. Fazel Darbandi S, et al. J Neurodev Disord. 2022 Feb 5;14(1):11. doi: 10.1186/s11689-022-09421-5. J Neurodev Disord. 2022. PMID: 35123407 Free PMC article.
Tbr1 is expressed in the postmitotic excitatory neurons of the deep neocortical layers 5 and 6. ...However, an understanding of Tbr1's function in the adult mouse brain remains elusive. METHODS: We used conditional mutagenesis to interrogate Tbr1's function i …
Tbr1 is expressed in the postmitotic excitatory neurons of the deep neocortical layers 5 and 6. ...However, an understanding of Tb …
Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice.
Huang TN, Yen TL, Qiu LR, Chuang HC, Lerch JP, Hsueh YP. Huang TN, et al. Mol Autism. 2019 Feb 11;10:5. doi: 10.1186/s13229-019-0257-5. eCollection 2019. Mol Autism. 2019. PMID: 30792833 Free PMC article.
In this report, we investigate the role of TBR1 in regulating olfaction and test whether D-cycloserine can also improve olfactory defects in Tbr1 mutant mice. METHODS: We used Tbr1(+/-) mice as a model to investigate the function of TBR1 in olfactory s …
In this report, we investigate the role of TBR1 in regulating olfaction and test whether D-cycloserine can also improve olfactory def …
Functional characterization of TBR1 variants in neurodevelopmental disorder.
den Hoed J, Sollis E, Venselaar H, Estruch SB, Deriziotis P, Fisher SE. den Hoed J, et al. Sci Rep. 2018 Sep 24;8(1):14279. doi: 10.1038/s41598-018-32053-6. Sci Rep. 2018. PMID: 30250039 Free PMC article.
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 TBR …
Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD …
TBR1 regulates autism risk genes in the developing neocortex.
Notwell JH, Heavner WE, Darbandi SF, Katzman S, McKenna WL, Ortiz-Londono CF, Tastad D, Eckler MJ, Rubenstein JL, McConnell SK, Chen B, Bejerano G. Notwell JH, et al. Genome Res. 2016 Aug;26(8):1013-22. doi: 10.1101/gr.203612.115. Epub 2016 Jun 20. Genome Res. 2016. PMID: 27325115 Free PMC article.
Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including TBR1, a master regulator of cortical development. We performed ChIP-seq for TBR1 during mouse cor …
Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectru …
414 results