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.

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.

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.

The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues, where it is primarily found at junctions that connect …

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 …

2025年2月22日 · Gene target information for CTNNB1 - catenin beta 1 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

CTNNB1 is important in the development and maturation of the brain and loss of its function causes challenges with learning and memory. This is why CTNNB1 syndrome is associated with developmental delay and/or intellectual disability.

2025年1月22日 · Aberrant β-catenin IHC staining and CTNNB1 gene mutation in HCC correlate significantly with tumor size, number of tumor nodules, tumor stage and presence of LVE.

2024年10月7日 · Scientists and clinicians are now looking back at cases characterized as cerebral palsy attributed to a lack of oxygen to the brain and are finding that a subset is actually CTNNB1 syndrome.