CTNNB1 Syndrome - Symptoms, Causes, Treatment | NORD
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.
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 of cell–cell adhesion and gene transcription.
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 condition associated with developmental delay, intellectual disability and speech delay.
CTNNB1 Gene - GeneCards | CTNB1 Protein | CTNB1 Antibody
2024年12月9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 CTNNB1 phospho-site mutants and Gastrulation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and binding.
CTNNB1 Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf
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 Connect & Cure – Finding treatments 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 in the CTNNB1 community. Learn how to get involved to support research and spread awareness.
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.
CTNNB1 gene - MedlinePlus
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.
Researchers Identify Possible Treatment for Rare Disorder
2024年9月26日 · A small molecule inhibitor is key to potentially reversing CTNNB1 syndrome, according to a new study from a School of Medicine professor and colleagues.
Possible Treatment for Rare Disorder Identified | Tufts Solutions
First identified in 2012, CTNNB1 syndrome affects an estimated 1 in 50,000 people worldwide. It is not inherited from parents, but instead is caused in utero or after birth by a sporadic mutation in a single gene.