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.

What is TBR1–related disorder? TBR1-related disorder is caused by changes (also known as variants or mutations) in, or a deletion of, the TBR1 gene. Children with TBR1-related disorder have neuro-developmental difficulties. They present mild to severe developmental delay (DD) and intellectual disability (ID).

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.

To date, T-BRAIN-1 (TBR-1) is the best studied transcription regulator among the high-confidence risk genes for ASDs. In this review, we summarize the physiological functions of TBR1 and the currently understood mechanisms by which TBR1 mutations cause ASDs.

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,...