Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. Genes Chromosomes Cancer. 1999;25:399–402.Blaker H. et al. Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. Genes Chromosomes Cancer. 1999; 25 (4):399–402. doi: 10.1002/(SICI)...
Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. Hepatoblastoma is a rare malignant tumor of the liver that occurs in children at an average age of 2 to 3 years. Epidemiologic studies have shown an increa... H Blker,W J Hofmann,R J Rieker,... - 《Genes Ch...
CTNNB1 syndrome is a rare neurodevelopmental disorder, affecting children worldwide with a prevalence of 2.6–3.2 per 100,000 births and often misdiag
Results: In the proband, WES revealed a novel, likely pathogenic homozygous mutation in the cadherin-associated protein beta-1 gene (CTNNB1), c.884C>G; p.(Ala295Gly), which encodes a co-effector molecule of the Wnt/β-catenin pathway. The proband's parents were shown to be ...
-Catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. Genes Chromosomes Cancer 25:399.Blaker H, Hofmann WJ, Rieker RJ, Penzel R, Graf M, Otto HF (1999) Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. Genes Chromosomes Cancer 25:399...
Objective: Desmoid fibromatosis is a rare locally aggressive fibroblastic/myofibroblastic tumor which commonly arises in young adults and occasionally in children. The importance of Wnt pathway has been documented in these tumors. We examined the presence of CTNNB1 mutations, seen in sporadic tumors,...
β-Catenin Status Predicts a Favorable Outcome in Childhood Medulloblastoma: The United Kingdom Children's Cancer Study Group Brain Tumour Committee Mutations in CTNNB1 were found exclusively among medulloblastomas that demonstrated nuclear beta-catenin immunoreactivity, but no evidence of APC mutation was...
Histologic features were most consistent with a benign tumor in the spectrum of fetal rhabdomyoma and benign triton tumor. Although CTNNB1 mutations are commonly identified in rhabdomyosarcoma, they may also be identified in benign skeletal muscle tumors in young children.S Allen-Winters...