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. Neurodevelopmental disorders are ones that impair or alter the growth and development of the brain and the central nervous system.

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 Signaling by GSK3beta mutants and Gastrulation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and binding.

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 of cell–cell adhesion and gene transcription.

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 condition associated with developmental delay, intellectual disability and speech delay.

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 by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR).

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 proliferation of kidney cells and tumor development.

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 intellectual disability.

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 CTNNB1 gene. By funding CTNNB1 research, we are creating a roadmap for a cure. Get connected with other children and parents in the CTNNB1 community.

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 Axis Promotes Pancreatic Neuroendocrine Tumor …

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, leading to activate Wnt responsive genes.