2023年7月27日 · CTNNB1 syndrome is an extremely rare genetic neurodevelopmental disorder caused by changes (pathogenic variants or mutations) in the CTNNB1 gene. …

2024年12月24日 · CTNNB1 (Catenin Beta 1) is a Protein Coding gene. Diseases associated with CTNNB1 include Pilomatrixoma and Colorectal Cancer. Among its related pathways are …

Catenin beta-1, also known as β-catenin (beta -catenin), is a protein that in humans is encoded by the CTNNB1 gene. β-Catenin is a dual function protein, involved in regulation and coordination …

CTNNB1 Syndrome is a severe neurodevelopmental disorder caused by disruption of chromosome 3p22.1 of the CTNNB1 gene (Verhoeven et al. 2020). It is a recently discovered …

2022年5月19日 · CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals …

CTNNB1 gene mutations in Wilms tumor result in an overly active protein. This active beta-catenin protein promotes Wnt signaling longer than normal, which leads to the unchecked …

What is CTNNB1 syndrome and how is it caused? CTNNB1 syndrome is a genetic condition that can cause developmental delay and/or learning difficulties that can lead to a diagnosis of …

Finding treatments and a cure for CTNNB1 Syndrome while raising awareness and connecting families. What is CTNNB1 ? CTNNB1 Syndrome is a rare genetic disorder related to the …

2025年2月22日 · Title: Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology. MEN1 Deficiency-Driven Activation of the beta-Catenin-MGMT …

2024年8月16日 · In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, …