
CTNNB1 Syndrome - Symptoms, Causes, Treatment | NORD
Jul 27, 2023 · CTNNB1 syndrome is an extremely rare genetic neurodevelopmental disorder caused by changes (pathogenic variants or mutations) in the CTNNB1 gene. …
CTNNB1 syndrome – CTNNB1 Foundation
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 …
CTNNB1 Gene - GeneCards | CTNB1 Protein | CTNB1 Antibody
Dec 24, 2024 · 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 - Wikipedia
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 gene: MedlinePlus Genetics
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 Connect & Cure – Finding treatment options and a cure for 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 …
CTNNB1 catenin beta 1 [Homo sapiens (human)] - Gene - NCBI
Feb 22, 2025 · 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 …
Wnt/ β-catenin and CTNNB1 gene mutation in hepatocellular …
Jan 22, 2025 · 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.
Researchers Identify Possible Treatment for Rare Disorder – CTNNB1 ...
Oct 7, 2024 · 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 …