• We assessed CTNNB1 ( beta-catenin ) exon 3 mutations in a cohort of 11 samples of adenoid ameloblastomas from 9 patients . (bvsalud.org)
  • Tumors of 4 of these 9 patients harbored CTNNB1 mutations , specifically p.Ser33Cys, p.Gly34Arg, and p.Ser37Phe. (bvsalud.org)
  • Two distinct types are recognized: Adamantinomatous craniopharyngiomas, which resemble ameloblastomas (the most common type of odontogenic tumor), are characterized by activating CTNNB1 mutations. (wikipedia.org)
  • Mutations in the CTNNB1 gene or the APC gene cause desmoid tumors. (medlineplus.gov)
  • CTNNB1 gene mutations account for around 85 percent of sporadic desmoid tumors. (medlineplus.gov)
  • The CTNNB1 gene provides instructions for making a protein called beta-catenin. (medlineplus.gov)
  • CTNNB1 gene mutations lead to an abnormally stable beta-catenin protein that is not broken down when it is no longer needed. (medlineplus.gov)
  • Excess beta-catenin, whether caused by CTNNB1 or APC gene mutations, promotes uncontrolled growth and division of cells, allowing the formation of desmoid tumors. (medlineplus.gov)
  • Loss-of-function mutations in APC or AXIN or activating mutations in the gene encoding β-catenin, CTNNB1 , lead to aberrant activation of Wnt/β-catenin signaling and have been causally linked to tumorigenesis of the colon, liver and skin [1] , [4] . (plos.org)
  • Sanger sequencing of a dissected desmoid tumor demonstrates base pair edits culminating in amino acid changes corresponding the human S45F mutation in CTNNB1 associated with sporadic desmoid tumorigenesis. (xenbase.org)
  • Homo sapiens catenin beta 1 (CTNNB1), transcript variant 1, mRNA. (origene.com)
  • Meanwhile, Schreiber and his colleagues particularly examined which molecules CTNNB1 mutant lines were sensitive to, as mutations in CTNNB1, the transcription factor b-catenin gene, are found in a number of cancers, though a targeted treatment aimed at them has yet to be found. (genomeweb.com)
  • They also tested the sensitivity of CTNNB1 mutant lines harboring mutations in their degradation boxes and saw that they had sensitivity levels similar to the other mutant lines. (genomeweb.com)
  • These data support our hypothesis that mutations in CTNNB1 and alterations in its destruction complex are biomarkers for sensitivity to navitoclax," the researchers said. (genomeweb.com)
  • They added that as CTNNB1 mutations appear to increase b-catenin protein levels, any small molecule that increases b-catenin protein levels could sensitize cells without the navitoclax mutation to the drug. (genomeweb.com)
  • These are for the most part low-grade tumors that are characterized by a high frequency of mutations of KRAS , BRAF, ERBB2, CTNNB1 (the gene encoding beta catenin), and PIK3CA , low proliferation, and a 5-year survival of approximately 55% [ 2 ]. (hindawi.com)
  • The gene view histogram is a graphical view of mutations across CTNNB1_ENST00000642426. (sanger.ac.uk)
  • This section shows the drugs associated with CTNNB1_ENST00000642426 resistance mutations. (sanger.ac.uk)
  • 2004. Cloning of the rat beta-catenin gene (Ctnnb1) promoter and its functional analysis compared with the Catnb and CTNNB1 promoters. . (oregonstate.edu)
  • 2003. Mutational analysis of Ctnnb1 and Apc in tumors from rats given 1,2-dimethylhydrazine or 2-amino-3-methylimidazo[4,5-f]quinoline: mutational 'hotspots' and the relative expression of beta-catenin and c-jun. . (oregonstate.edu)
  • 2002. Sequencing of the rat beta-catenin gene (Ctnnb1) and mutational analysis of liver tumors induced by 2-amino-3-methylimidazo[4,5-f]quinoline. . (oregonstate.edu)
  • Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin. (medscape.com)
  • Based on Pan-Cancer Analysis of Whole Genomes data analyses, NOTCH2 mutations affect expression levels particularly in the presence of CTNNB1 missense mutations. (e-crt.org)
  • As part of the cell-signaling pathway, beta-catenin interacts with other proteins to control the activity (expression) of particular genes, which helps promote cell proliferation and differentiation. (medlineplus.gov)
  • The Wnt/β-catenin pathway plays a critical role in embryonic development, maintenance of multipotent progenitor cell populations and proliferation of many tissue types [1] , [2] . (plos.org)
  • The Wnt pathway mediates the biological processes of the canonical or non-canonical pathway, depending on the involvement of β-catenin in signal transduction. (chemdiv.com)
  • The recently described role of the Wnt/β-catenin pathway in the regulation of immune cell infiltration of microenvironment tumor resumes interest because of its potential impact to rection of immune therapy. (chemdiv.com)
  • This article presents the roles of the Wnt/β-catenin pathway in cancer and current therapeutic strategies involving this pathway. (chemdiv.com)
  • Nussе and Varmus identified components of the Wnt/β-catenin pathway in 1982 in a study of oncogenic breast tumor viral diseases (MMTV) [1]. (chemdiv.com)
  • Despite this clearly defined genetic etiology and the strict and unique implication of the Wnt/β-catenin pathway, no specific molecular targets for these tumors have been identified. (xenbase.org)
  • Hyperactivation of the Wnt/β-catenin signaling pathway via truncation of Apc or constitutive activation of β-catenin induces desmoid tumors in X. tropicalis. (xenbase.org)
  • The first piece of information, which was a little surprising, was that there was no significant impact of any of the mutations on outcome, including the BRAF amplifications, mutations in the MAP kinase pathway, or MEK1/2 mutations. (medscape.com)
  • No. But what we do see is that in patients with low TMB and low interferon gamma, there were mutations in the Wnt signaling pathway and beta-catenin, which we know bodes a poor outcome. (medscape.com)
  • The BRAF oncogene is an integral component of the MAP kinase pathway, and an activating V600E mutation occurs in 15% of sporadic colorectal cancer. (hindawi.com)
  • The BRAF V600E mutation occurs early in tumourigenesis and is highly correlated with the serrated neoplasia pathway of colorectal cancer. (hindawi.com)
  • This latter pathway involves the previously well-defined series of genetic aberrations such as APC mutation and chromosomal instability and accounts for the majority of colorectal cancer [ 12 ]. (hindawi.com)
  • Novel Mutations in NOTCH and Altered Wnt/beta-Catenin Pathway Indicate a Role of Embryonic Signals in the Pathogenesis of T-Cell Prolymphocytic Leukemia. (uni-koeln.de)
  • In approximately 90 percent of patients that present with colon carcinoma, the expression of the c-MYC protein is strongly increased due to mutations in the APC/beta-catenin pathway. (medicalxpress.com)
  • β-catenin protein is an integral part of the canonical Wnt signaling pathway. (tocris.com)
  • Mutations in β-catenin, axin and APC have been discovered in numerous cancers, and other members of the canonical pathway may also contribute to misregulation of Wnt signaling. (tocris.com)
  • Somatic mutations in only three genes (TP53, PIK3CA and GATA3) occurred at >10% incidence across all breast cancers. (genome.jp)
  • They are characterized by a high frequency of mutations in TP53 , a tumor suppressor gene, and a high proliferative index. (hindawi.com)
  • Preliminary data suggests that these TP53 mutations may develop early in the carcinogenic process. (hindawi.com)
  • Both STARD12 and STARD14 were corelated with epigenetic regulation, especially TP53 mutation and m6A modification. (medsci.org)
  • In particular, some 42 percent of those included in the study harbored point mutations or indels affecting TP53. (genomeweb.com)
  • These tumors do not harbor BRAF or KRAS mutations and their molecular basis appears distinct from conventional ameloblastoma but remains unknown. (bvsalud.org)
  • None of the cases harbored either BRAF or KRAS mutations . (bvsalud.org)
  • To be sure, there is no convincing evidence suggesting that KRAS mutations are independent prognostic factors for CRC. (genengnews.com)
  • But KRAS mutation status has been established as a predictive marker for treatment with EGFR inhibitors. (genengnews.com)
  • Specifically, KRAS mutations serve as a biomarker for lack of response to anti-EGFR treatment. (genengnews.com)
  • Vectibix' approval in mCRC was based in no small part on retrospective analysis of clinical trial data indicating that only patients with the wild-type KRAS gene, that is, without mutations in the gene, could respond to Vectibix. (genengnews.com)
  • Originally designed to compare the treatment effect in the overall patient population, the study was amended to analyze outcomes with respect to the presence or absence of activating mutations in KRAS in the tumor itself. (genengnews.com)
  • These tumors may show microsatellite instability and have mutations in PTEN , PIK3CA , KRAS , and CTNNB 1. (msdmanuals.com)
  • These kinases phosphorylate β-catenin, leading to its ubiquitylation and proteasomal degradation. (nature.com)
  • In the absence of Wnt ligands, a complex containing APC, AXIN and GSK3 phosphorylates β-catenin, marking it as a substrate for ubiquitination by β-TrCP and subsequent proteasomal degradation. (plos.org)
  • In addition to ligand-regulated degradation of β-catenin, Wnt signaling is antagonized by extracellular factors that inhibit the ability of Wnt ligands to bind to Fzd and initiate signaling, such as the secreted frizzled-related proteins (SFRP1, WNT inhibitory factor (WIF) and dickkopf (DKK) [3] . (plos.org)
  • [ 11 ] Desmoid tumors show biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). (medscape.com)
  • In desmoid tumors, one of the two mutations usually occurs distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). (medscape.com)
  • The tumor suppressor protein APC forms the core of a cytoplasmic complex which binds ß-catenin and targets it for degradation in the proteasome. (hubrecht.eu)
  • Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. (medlineplus.gov)
  • A somatic mutation in one copy of the gene is sufficient to cause the disorder. (medlineplus.gov)
  • The desmoid tumors occur when a somatic mutation occurs in the second copy of the APC gene. (medlineplus.gov)
  • Along with an examination of the frequency and distribution of such somatic mutations, the team's analysis included a cross-cancer look at mutations that might offer therapeutic and/or prognostic insights. (genomeweb.com)
  • We identified somatic mutations in coding and noncoding regions via whole-genome sequencing. (e-crt.org)
  • Together with the absence of BRAF mutation , the detection of beta-catenin mutation in adenoid ameloblastomas supports its classification as a separate entity, and not as a subtype of ameloblastoma . (bvsalud.org)
  • This review highlights the importance of the BRAF mutation occurring in colorectal cancer stratified for molecular background and discusses its prognostic and clinical significance. (hindawi.com)
  • In colorectal cancer, the presence of a BRAF mutation can be associated with an aggressive phenotype and is a key prognostic biomarker for poor outcome particularly in late-stage disease. (hindawi.com)
  • Recent studies have also found that presence of the BRAF mutation has direct implications for clinical management as along with TNM stage, BRAF mutational status was the only molecular variable that independently accounted for poor survival [ 13 ], and studies have found that BRAF mutant cancers are refractory to anti-EGRF therapy [ 14 , 15 ]. (hindawi.com)
  • For instance, mutations in STK11, EGFR, and BRAF all correlated with non-responsiveness to a number of compounds. (genomeweb.com)
  • β-catenin then translocates to the nucleus where it forms a complex with TCF/LEF transcription factors and activates Wnt target gene expression 28 , 29 . (nature.com)
  • Once stabilized, β-catenin accumulates and translocates to the nucleus, where it complexes with TCF/LEF to activate transcription of target genes, such as MYC and CCND1 . (plos.org)
  • Although mutations in these same genes have not been observed as recurrent genetic events in breast tumors, there is strong evidence implicating Wnt/β-catenin activity in breast tumorigenesis. (plos.org)
  • Catenin and catenin-binding genes have been found to be associated with neoplastic processes in a number of ways. (medscape.com)
  • In the tabs below you can see any other genes that have resistance mutations to the same drug(s), and the distribution of mutations that occur in those genes. (sanger.ac.uk)
  • Alternative transcripts are also displayed here for genes where reported resistant mutations are not located on the canonical transcript but are on the alternative, and also where reported resistant mutations are located at the same genomic position on both the canonical and alternative transcripts or on overlapping genes and/or fusions and share a COSM id. (sanger.ac.uk)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • Accumulation of β-catenin in the cell cytoplasm prompts its translocation to the nucleus, where it interacts with members of the TCF/LEF family of transcription factors and induces the transcription of Wnt target genes. (tocris.com)
  • Aberrant TCF-β-catenin signaling is also evident in many cancers, and results in altered expression of genes controlling cell proliferation, differentiation, migration and apoptosis. (tocris.com)
  • As they reported online today in Nature , researchers from Washington University's Genome Institute and elsewhere used TCGA data from nearly 3,300 tumors to look for genes recurrently altered by point mutations or small insertions and deletions. (genomeweb.com)
  • The search unearthed 127 genes that appear prone to mutation across the 12 cancer types tested. (genomeweb.com)
  • Some of those significantly mutated genes fell in pathways with long-documented roles in cancer - such as the MAP kinase and Wnt/beta-catenin signaling pathways - while others point to processes that are recently recognized as potential cancer contributors. (genomeweb.com)
  • Consistent with past findings from smaller sample sets, the researchers saw that some significantly mutated genes were prone to mutation in the same tumors, while others occurred in a more mutually exclusive manner - patterns that they were able to explore in both cancer type-specific and cross-cancer contexts. (genomeweb.com)
  • They were also quite common in some forms of breast cancer and in some cancers lacking mutations to most other significantly mutated genes, the researchers noted. (genomeweb.com)
  • For example, results from the study hint that tumors from many cancer types tend to harbor mutations affecting chromatin remodeling or histone modification genes. (genomeweb.com)
  • In patients suffering from TNBC, the deregulation of various signalling pathways (Notch and Wnt/beta-catenin), EGFR protein have been confirmed. (genome.jp)
  • APC gene mutations cause desmoid tumors associated with familial adenomatous polyposis as well as 10 to 15 percent of sporadic desmoid tumors. (medlineplus.gov)
  • Mutations in the APC gene that cause desmoid tumors lead to a short APC protein that is unable to interact with beta-catenin. (medlineplus.gov)
  • An inherited mutation in one copy of the APC gene causes familial adenomatous polyposis and predisposes affected individuals to develop desmoid tumors. (medlineplus.gov)
  • Additionally, evidence also exists for a genetic predisposition to desmoid tumors in FAP, independent of the APC mutation. (medscape.com)
  • Desmoid tumors occur at a rate of 10-15% in patients with FAP, an autosomal inherited disease caused by germline mutations in the APC gene. (medscape.com)
  • While canonical, β-catenin-dependent Wnt signaling is well studied and has been linked to many forms of cancer, much less is known about the role of non-canonical, β-catenin-independent Wnt signaling. (nature.com)
  • Here, we aimed at identifying a β-catenin-independent Wnt target gene signature in order to understand the functional significance of non-canonical signaling in colon cancer cells. (nature.com)
  • Our experiments indicate that colon cancer cells are dependent on both β-catenin-dependent and -independent Wnt signaling routes for growth and proliferation. (nature.com)
  • Non-canonical, β-catenin-independent Wnt signaling is proposed to have a multifunctional role in tumorigenesis, being either tumor supportive or suppressive depending on tumorstage and tumortype 9 . (nature.com)
  • Aberrant β-catenin signaling plays a key role in several cancer types, notably colon, liver and breast cancer. (plos.org)
  • To uncover genetic dependencies in breast cancer cells that harbor active β-catenin signaling, we performed RNAi-based loss-of-function screens in breast cancer cell lines in which we had characterized β-catenin activity. (plos.org)
  • Furthermore, we demonstrate that breast cancer cells that harbor activated β-catenin activity exhibit enhanced sensitivity to pharmacological blockade of Wnt/β-catenin signaling. (plos.org)
  • These studies identify CK1ε as a critical contributor to activated β-catenin signaling in cancer and suggest it may provide a potential therapeutic target for cancers that harbor active β-catenin. (plos.org)
  • Canonical Wnt/β-catenin signaling is initiated by binding of Wnt ligands to Frizzled (Fzd)-LRP5/6 receptor complexes, leading to inactivation of the destruction complex and stabilization of β-catenin. (plos.org)
  • FOXC1 silencing inhibits the epithelial‑to‑mesenchymal transition of glioma cells: Involvement of β‑catenin signaling. (cancerindex.org)
  • ChemDiv's Inhibitors of beta-Catenin Signaling Library contains 8,000 compounds. (chemdiv.com)
  • The roles of b-catenin are 'classically' defined: as an adhesion protein and as a signaling protein, transducing extracellular signals to the nucleus to modify gene expression. (chemdiv.com)
  • β -catenin has many binding partners that mediate a diverse set of cellular functions, and the protein probably acts as a 'hub' on which many cellular signaling networks impinge. (chemdiv.com)
  • Wnt/β-catenin signaling is a branch of a functional network that is involved in a broad range of biological systems including stem cells, embryonic development and adult organs. (chemdiv.com)
  • Deregulation of components involved in Wnt/β-catenin signaling has been implicated in a wide spectrum of diseases including a number of cancers and degenerative diseases. (chemdiv.com)
  • Speaking more specifically, β-catenin is an integral structural component of cadherin-based adhesive junctions as well as it a key nuclear effector of canonical in nucleus Wnt signaling. (chemdiv.com)
  • An imbalance in the structural and signaling properties of β-catenin often leads to disease and unregulated growth associated with cancer and metastasis. (chemdiv.com)
  • β-catenin is a component of the complex cadherin complex whose stabilization is required to activate Wnt/β-catenin signaling. (chemdiv.com)
  • This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. (nih.gov)
  • In this study, we demonstrate that Wnt/β-catenin signaling is necessary for the survival of early ventral dermal progenitors. (biologists.com)
  • In addition, we show that, at later stages,Wnt/β-catenin signaling is sufficient for ventral dermal cell specification. (biologists.com)
  • Consistent with the different origins of dorsal and ventral dermal cells, our results demonstrate both conserved and divergent roles ofβ-catenin/Wnt signaling in dermal development. (biologists.com)
  • 2003. Promotion versus suppression of rat colon carcinogenesis by chlorophyllin and chlorophyll: modulation of apoptosis, cell proliferation, and beta-catenin/Tcf signaling. . (oregonstate.edu)
  • 2003. Suppression of tumorigenesis in the Apc(min) mouse: down-regulation of beta-catenin signaling by a combination of tea plus sulindac. . (oregonstate.edu)
  • Upon Wnt signaling, ß-catenin binds and activates nuclear TCFs by providing a trans-activation domain. (hubrecht.eu)
  • Desmoid tumor, also known as aggressive fibromatosis, is well-characterized by abnormal Wnt/β-catenin signaling. (e-crt.org)
  • 2004. Activator protein 2alpha associates with adenomatous polyposis coli/beta-catenin and Inhibits beta-catenin/T-cell factor transcriptional activity in colorectal cancer cells. . (oregonstate.edu)
  • As a result, beta-catenin is not broken down and, instead, accumulates in cells. (medlineplus.gov)
  • In APC-deficient colon carcinoma cells, we demonstrated that ß-catenin accumulates and is constitutively complexed with the TCF family member TCF4, providing a molecular explanation for the initiation of colon cancer (5). (hubrecht.eu)
  • This is significant, as more than 50 percent of all human cancers involve defects, mutations, or other alterations in the p53 gene. (weizmann-usa.org)
  • Alteration of beta-catenin expression in hepatocellular carcinomas (HCCs) may play an important role in tumor progression by stimulating cell proliferation. (nih.gov)
  • The finding of occult invasive and intraepithelial fallopian tube carcinomas in prophylactically removed specimens from asymptomatic high-risk BRCA 1/2-mutation carriers supports the notion of an origin for OSC in the fallopian tube. (hindawi.com)
  • It is estimated that 60% of sporadic ovarian carcinomas and the majority of those diagnosed in BRCA1 mutation carriers are of the high-grade serous type [ 4 , 5 ]. (hindawi.com)
  • Mutations in that well-known cancer gene turned up in a large swath of the serous endometrial carcinomas tested and in most of the serous ovarian tumors. (genomeweb.com)
  • Genomic and immunohistochemical analysis in human adrenal cortical neoplasia reveal beta-catenin mutations as potential prognostic biomarker. (discoveriesjournals.org)
  • 2008. Protective versus promotional effects of white tea and caffeine on PhIP-induced tumorigenesis and beta-catenin expression in the rat. . (oregonstate.edu)
  • Axin1 and GSK3β are recruited to the receptor complex upon Wnt stimulation and this leads to a breakdown of the destruction complex and β-catenin stabilization. (nature.com)
  • Furthermore, we show that the ligands Wnt5a/b are upstream regulators of the non-canonical signature and moreover regulate proliferation of cancer cells in a β-catenin-independent manner. (nature.com)
  • Here we identify CSNK1E , the gene encoding casein kinase 1 epsilon (CK1ε) as required specifically for the proliferation of breast cancer cells with activated β-catenin and confirm its role as a positive regulator of β-catenin-driven transcription. (plos.org)
  • endometrial cancer due to inherited mutations tends to occur at a younger age and is often diagnosed 10 to 20 years earlier than sporadic cancer. (msdmanuals.com)
  • After PCR amplification of exon 2 of the beta-catenin gene, the products were sequenced directly. (nih.gov)
  • ChemDiv proposes the new library of beta-catenin inhibitors/modulators. (chemdiv.com)
  • Our study demonstrates that ERMS cells are vulnerable to EHMT2 inhibitors and suggest that targeting the EHMT2-DKK1-β-catenin node holds promise for differentiation therapy. (elifesciences.org)
  • However approaches to modulate β-catenin activity for therapeutic purposes have proven elusive to date. (plos.org)
  • these in turn inhibit the destruction complex responsible for degrading β-catenin, which includes GSK-3 . (tocris.com)
  • Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. (origene.com)
  • The availability of an unassailable predictive biomarker for treatment of colorectal cancer patients with Vectibix and Erbitux has made testing for a specific gene mutation a treatment prerequisite. (genengnews.com)
  • β-catenin is a multipurpose and evolutionarily conserved molecule that plays a critical role by metazoans in a variety of processes in development and homeostasis. (chemdiv.com)
  • The molecular weight of proteins were 102, 88 and 80 kDa, so they were named α, β and γ-catenin. (chemdiv.com)
  • After an adapted imaging, the diagnosis of a desmoid tumor (DT) is provided by a percutaneous microbiopsy, with a molecular analysis for beta-catenin or APC gene mutation. (dtrf.org)
  • Different cancer types tend to depend on a limited number of 'driver' oncogene mutations. (cancerquest.org)
  • Notably, for one patient 3 samples were analyzed including the primary tumour and two consecutive recurrences , and results were positive for the mutation in all three tumors . (bvsalud.org)
  • Chan EF, Gat U, McNiff JM, Fuchs E. A common human skin tumour is caused by activating mutations in beta-catenin. (medscape.com)
  • With gene-wise functional analyses, we detected a significant correlation between recurrent NOTCH2 noncoding mutations and clinical response to imatinib. (e-crt.org)
  • This library represents a selection of drug-like compounds aimed at modulating protein-protein interaction (PPI) of β-catenin with different proteins involved in significant physiological processes. (chemdiv.com)
  • 5 mm in diameter were used for the analysis of beta-catenin gene mutation and beta-catenin protein expression. (nih.gov)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Novel homozygous KREMEN1 mutation causes ectodermal dysplasia. (nih.gov)
  • A homozygous RNF220 mutation leads to male infertility with small-headed sperm. (nih.gov)
  • No mutations of beta-catenin gene were detected in liver cell adenomas of any group. (nih.gov)
  • 2004. The dietary phytochemical chlorophyllin alters E-cadherin and beta-catenin expression in human colon cancer cells. . (oregonstate.edu)
  • These mutations are the main changes that make the cancer progress. (cancerquest.org)
  • Most endometrial cancer is caused by sporadic mutations. (msdmanuals.com)
  • For the new analysis, researchers used exome sequence profiles and other data types for 3,281 tumors to define mutation types and frequencies within the 12 cancer types considered. (genomeweb.com)
  • We also find that expression of CK1ε is able to promote oncogenic transformation of human cells in a β-catenin-dependent manner. (plos.org)
  • When beta-catenin is no longer needed, the APC protein attaches (binds) to it, which signals for it to be broken down. (medlineplus.gov)
  • Overall, certain mutations indicated that a line is resistant to many compounds. (genomeweb.com)
  • [5] According to the Ehlers-Danlos Society , the syndromes can also be grouped by the symptoms determined by specific gene mutations. (wikipedia.org)
  • An activating hotspot mutation occurs at V600E and results in constitutive MAPK signalling and uncontrolled cellular growth. (hindawi.com)
  • For example, they focused in on mutations linked to sensitivity to navitoclax, a Bcl-2 family antagonist, finding a potential association between activating mutations in beta-catenin and sensitivity to that drug. (genomeweb.com)
  • Antagonist of the Tcf/β-catenin complex. (tocris.com)
  • These mutations are displayed at the amino acid level across the full length of the gene by default. (sanger.ac.uk)
  • Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. (cancerindex.org)