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Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant genetic disorder caused by genetic...
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Desmoplastic fibroma of the pediatric cranium with CTNNB1 mutation: case report and literature review
PurposeDesmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the...
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A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder
PurposeWe aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian...
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Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability
CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell–cell adhesion and gene expression in the...
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CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma
CTNNB1 mutations play important roles in the development of soft tissue tumors, such as desmoid fibromatosis (DF), sinonasal tract angiofibroma,...
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Rare histologic transformation of a CTNNB1 (β-catenin) mutated prostate cancer with aggressive clinical course
BackgroundCatenin (Cadherin-Associated Protein), Beta 1 ( CTNNB1) genomic alterations are rare in prostate cancer (PCa). Gain-of-function mutations...
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SNHG1 functions as a ceRNA in hypertrophic scar fibroblast proliferation and apoptosis through miR-320b/CTNNB1 axis
Hypertrophic scar (HS) is a fibrotic disease caused by skin injury. Competing endogenous RNA (ceRNA) has been demonstrated to implicate in the...
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CTNNB1 polymorphism (rs121913407) in circulating tumor DNA (ctDNA) in Egyptian hepatocellular carcinoma patients
BackgroundHepatocellular carcinoma (HCC) represents the sixth most common cancer worldwide and the fourth in Egypt. Persistent inflammation and...
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Recurrent CTNNB1 mutations in craniofacial osteomas
Osteoma is a benign bone forming tumor predominantly arising on the surface of craniofacial bones. While the vast majority of osteomas develops...
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Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
BackgroundInherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically...
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The m6A reading protein YTHDF3 potentiates tumorigenicity of cancer stem-like cells in ocular melanoma through facilitating CTNNB1 translation
N 6 -methyladenosine (m 6 A) is the most universal internal RNA modification on messenger RNAs and regulates the fate and functions of m 6 A-modified...
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Targeted next-generation sequencing reveals activating CTNNB1 mutations in SMARCA4/BRG1-deficient sinonasal carcinomas: a report of two new cases and a brief review of the literature with an emphasis on histogenesis
SMARCA4/BRG1 is a catalytic subunit of the SWItch/sucrose non-fermentable (SWI/SNF) complex and its inactivation is known to drive a variety of...
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Prognostic significance of CTNNB1 mutation in early stage endometrial carcinoma: a systematic review and meta-analysis
BackgroundIn the last years, mutations in the exon 3 of CTNNB1 have emerged as a possible prognostic factor for recurrence in early stage...
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“Pure” hepatoid tumors of the pancreas harboring CTNNB1 somatic mutations: a new entity among solid pseudopapillary neoplasms
Hepatoid tumors (HTs) represent a rare group of neoplasms that are histologically similar to hepatocellular carcinoma but arise outside the liver....
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Clinicopathological features and prognostic significance of CTNNB1 mutation in low-grade, early-stage endometrial endometrioid carcinoma
Low-grade and early-stage endometrioid endometrial carcinomas (EECs) have an overall good prognosis but biomarkers identifying patients at risk of...
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Clinicopathologic and molecular characterization of melanomas mutated for CTNNB1 and MAPK
Wnt/β-catenin signaling plays crucial roles in melanocyte biology and may be implicated in melanoma progression. In this study, we retrospectively...
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Loss of CTNNB1 exon 3 in sclerosing angiomatoid nodular transformation of the spleen
Sclerosing angiomatoid nodular transformation (SANT) is a rare vascular lesion of the spleen. Although several hypotheses have been suggested, the...
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MEF2A transcriptionally upregulates the expression of ZEB2 and CTNNB1 in colorectal cancer to promote tumor progression
Colorectal cancer (CRC) is one of the leading cancers worldwide, accounting for high morbidity and mortality. The mechanisms governing tumor growth...
