Tbr1 is a protein, called a transcription factor, that binds to DNA and regulates the transcription of genes into mRNA. It is expressed in postmitotic projection neurons and is critical for normal brain development. Tbr1 has been shown to be expressed in the developing olfactory bulb. Tbr1 has also been observed in the developing cerebral ...

2024年12月25日 · TBR1 (T-Box Brain Transcription Factor 1) is a Protein Coding gene. Diseases associated with TBR1 include Intellectual Developmental Disorder With Autism And Speech Delay and Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies .

2024年12月15日 · This website was built by parents with children diagnosed with TBR1 syndrome or TBR1 related disorder, also called IDDAS (Intellectual Development Disorder with Autism and Speech delay). We started this website in November 2020, one year after starting the Facebook group TBR1 genetic mutations .

2018年9月24日 · We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization,...

2025年2月8日 · We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of utism spectrum disorders cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions.

Here, we demonstrate that T-box transcription factor T-brain 1 (Tbr1) is expressed in 2 groups of morphologically and functionally distinct RGCs: the orientation-selective J-RGCs and a group of OFF-sustained RGCs with symmetrical dendritic arbors. When Tbr1 is genetically ablated during retinal development, these 2 RGC groups cannot develop.

The TBR1 gene encodes a neuron-specific transcription factor of the T-box family that plays a central role during cortical neurogenesis (summary by Vegas et al., 2018 and McDermott et al., 2018).

2020年1月31日 · TBR1 encodes a brain-specific transcription factor of the T-box family. It is expressed both during embryogenesis and adult life in glutamatergic pyramidal neurons of...

Our results show that ectopic Tbr1 overexpression produces an accumulation of neurons in the IZ and deep layers of the cerebral cortex in vivo, impairing and delaying cell migration to the upper layers, altering neuronal specification and disrupting …

Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified TBR1 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760).