• Familial adenomatous polyposis (FAP) is caused by an inherited, inactivating mutation in the APC gene. (wikipedia.org)
  • More than 800 mutations[citation needed] in the APC gene have been identified in families with classic and attenuated types of familial adenomatous polyposis. (wikipedia.org)
  • The most common mutation in familial adenomatous polyposis is a deletion of five bases in the APC gene. (wikipedia.org)
  • Although APC -related desmoid tumors are commonly associated with a form of colon cancer called familial adenomatous polyposis (described below), APC gene mutations can cause tumors in individuals without this inherited disease. (medlineplus.gov)
  • Mutations in the APC gene are also responsible for a disorder called Turcot syndrome, which is closely related to familial adenomatous polyposis. (medlineplus.gov)
  • Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. (spandidos-publications.com)
  • Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder with an incidence of approximately 3-10/100,000 ( 1 ). (spandidos-publications.com)
  • Mutations in the adenomatous polyposis coli (APC) gene are the basis of familial adenomatous polyposis and the majority of sporadic colorectal cancer. (ox.ac.uk)
  • Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the APC gene. (wikipedia.org)
  • The protein made by the APC gene plays a critical role in several cellular processes that determine whether a cell may develop into a tumor. (wikipedia.org)
  • A test target is what the test interrogates ( e. g. the analyte, chromosomal region/mitochondrion, gene or protein). (nih.gov)
  • The APC gene provides instructions for making the APC protein, which plays a critical role in several cellular processes. (medlineplus.gov)
  • Most APC gene mutations that cause sporadic desmoid tumors lead to an abnormally short APC protein. (medlineplus.gov)
  • The BRAF (v-raf murine sarcoma viral oncogene homolog B) gene encodes a protein that belongs to the Raf family of serine/threonine protein kinases. (hindawi.com)
  • Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. (spandidos-publications.com)
  • Germline mutations in the tumor suppressor adenomatous polyposis coli gene (APC) on chromosome 5q22.2 are responsible for the most cases of FAP. (spandidos-publications.com)
  • Adenomatous polyposis coli protein is a protein in humans that is encoded by APC gene. (cusabio.com)
  • The protein encoded by this gene is a member of the RP/EB family of genes. (nih.gov)
  • Membrane-spanning proteins often function as receptors involved in recognition and cell adhesion, whereas nuclear proteins frequently play a role in regulating gene expression and transcription. (biomedcentral.com)
  • Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment. (neurotransmitter.net)
  • Association between a G-protein beta3 subunit gene polymorphism and the symptomatology and treatment responses of major depressive disorders. (neurotransmitter.net)
  • The aim of the present study was to test a possible effect of the G-protein beta3-subunit (Gbeta3) C825T gene variant on the antidepressant activity of selective serotonin reuptake inhibitors (SSRIs) in a sample of major and bipolar depressives, with or without psychotic features. (neurotransmitter.net)
  • The first genetic alteration, found in 85% of adenomas, are mutations in the adenomatous polyposis coli (MC) gene. (um.es)
  • Most of these mutations cause the production of an APC protein that is abnormally short and presumably nonfunctional. (wikipedia.org)
  • Most of these mutations lead to the production of an abnormally short, nonfunctional version of the APC protein. (medlineplus.gov)
  • Most of the mutations causing FAP are nonsense or frameshift mutations, and can result in premature stop codons thus produce truncated APC proteins ( 7 ). (spandidos-publications.com)
  • Neufeld, associate professor in the Department of Molecular Biosciences, studies the adenomatous polyposis coli protein, which protects against colon cancer. (cancerlive.net)
  • It has been suggested that APC could function through its regulation of Bcatenin, an ubiquitous cytoskeletal protein with multiple binding specificities resulting in diverse functions including cell growth, adhesion, and migration. (um.es)
  • Plakoglobin (also known as γ-catenin) is a member of the Armadillo family of proteins and a paralog of β-catenin. (oncotarget.com)
  • How plakoglobin acts as a growth/metastasis inhibitory protein has remained, until recently, unclear. (oncotarget.com)
  • Recent evidence suggests that plakoglobin may suppress tumorigenesis and metastasis by multiple mechanisms, including the suppression of oncogenic signaling, interactions with various proteins involved in tumorigenesis and metastasis, and the regulation of the expression of genes involved in these processes. (oncotarget.com)
  • At the adherens junction in epithelia, the C-terminal domain of E-cadherin interacts, in a mutually exclusive manner, with β-catenin or γ-catenin (plakoglobin), which then interacts with α-catenin, an actin-binding protein. (oncotarget.com)
  • Humans have 2 Siah proteins, Siah1 and Siah2, derived from the SIAH1 and SIAH2 genes, respectively. (aacrjournals.org)
  • It is now clear that Armadillo and beta-catenin bind directly to members of the T-cell factor/lymphoid enhancer factor subfamily of HMG box DNA-binding proteins, forming bipartite transcription factors that regulate Wingless/Wnt responsive genes in both Drosophila and vertebrates. (embl.de)
  • Loss of APC function results in increased level of β-catenin and activation of growth-promoting genes via the increased β-catenin/Tcf-4 transcription complexes, subsequently leading to the development of adenomatous colorectal polyps at a young age ( 9 ). (spandidos-publications.com)
  • In the presence of Wnt signals, the Wnt proteins bind to (frizzled) frizzled receptors ( FZDs ) and low-density lipoprotein receptor-related protein ( LRP ) receptors, leading to the stabilization of β-catenin , its transfer to the nucleus, and the activation of target genes. (hindawi.com)
  • Aberrations of AR, erythroblast transformation-specific ( ETS ) genes, Tumor protein 53 (TP53), and Phosphatase and tensin homolog (PTEN) occurred in 40%-60% of 150 mCRPC cases in a recent study. (oncologynurseadvisor.com)
  • Patients who suffer from FAP also have increased risk of extra-colonic manifestations, including duodenal polyposis, sebaceous cysts, congenital hypertrophy of the retinal pigment epithelium (CHRPE) and tumors in the upper gastrointestinal tract, thyroid gland and brain ( 5 , 6 ). (spandidos-publications.com)
  • 71 Clusterin is a small heat shock glycoprotein overexpressed in most of the solid tumors, which promotes apoptosis by binding to various molecules such as BAX (BCL2-associated X protein) 72 and signal transducer and activator of transcription (STAT)−1. (oncologynurseadvisor.com)
  • Fetal Proteins" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • Adenomatous polyposis coli protein nucleates actin assembly and synergizes with the formin mDia1. (umassmed.edu)
  • G-proteins are key elements of these pathways in the regulation of cellular responses by transmission of signals from receptors to effector proteins. (neurotransmitter.net)
  • The APC protein is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion. (wikipedia.org)
  • The activity of one protein in particular, beta-catenin, is controlled by the APC protein (see: Wnt signaling pathway). (wikipedia.org)
  • One protein with which APC associates is beta-catenin. (medlineplus.gov)
  • The shortened protein is unable to interact with the beta-catenin protein, which prevents the breakdown of beta-catenin when it is no longer needed. (medlineplus.gov)
  • Adenomatous polyposis coli protein (APC), Protein Phosphatase 2A. (abdur.ca)
  • Activation of protein phosphatase 2A by palmitate inhibits AMP-activated protein. (abdur.ca)
  • The proteasome controls protein abundance within the cell through proteolytic degradation of unneeded or damaged proteins. (aacrjournals.org)
  • Most proteins are targeted for degradation by polyubiquitination mediated by E3 ubiquitin ligases ( 1, 2 ). (aacrjournals.org)
  • Mitogen-activated protein kinase (MAPK) p38 phosphorylates Siah2 under hypoxic conditions, causing it to relocalize to the cytoplasm and subsequently increases its ubiquitin-targeted degradation activity ( 10 ). (aacrjournals.org)
  • In addition, the deubiquitinating enzyme USP13 reduces the substrate degradation activity of Siah proteins ( 11 ). (aacrjournals.org)
  • Statistical analysis and mass spectrometry identified 26 proteins with differential expression, of which 14 were functionally linked to c-Myc, AP-1, HIF1A, hepatocyte nuclear factor 4 alpha, or the Ras superfamily (RhoA, CDC42, and Rac1). (elsevierpure.com)
  • The APC protein, which comprises of 2843 amino acids, plays an important role in the β-catenin nuclear localization ( 8 ). (spandidos-publications.com)
  • Structure-function analysis of the Dishevelled (Dsh) protein in frog embryos has defined sequences that regulate Dsh nuclear localization, which proves critical for Wnt signaling. (biomedcentral.com)
  • However, these cells showed loss of heterozygosity affecting Adenomatous Polyposis Coli and nuclear staining of β-catenin protein. (biomedcentral.com)
  • SUMOylation is a post-translational modification of proteins that has been found to play a major role in the Wnt/β-catenin signaling pathway. (frontiersin.org)
  • Now, in Journal of Biology [ 1 ], Sergei Sokol and colleagues show that the Dishevelled (Dsh) protein of the Wnt signaling pathway can shuttle in and out of the nucleus (see 'The bottom line' box for a summary of the work and 'Background' for further explanations and definitions). (biomedcentral.com)
  • Recent large scale sequencing analyses also have highlighted the predominance of large number of CRC patients carrying sequence variants in proteins involved in Wnt signaling pathway. (coloncanceratlas.org)
  • Analysis of Dsh sequence alignments revealed the presence of three conserved domains called DIX , PDZ and DEP [ 5 , 6 ], which are implicated in protein-protein interactions and targeting to subcellular sites. (biomedcentral.com)
  • Cadherins are single-pass transmembrane glycoproteins that form homotypic interactions with cadherin proteins on neighboring cells and interact intracellularly with proteins of the catenin family [ 4 , 5 ]. (oncotarget.com)
  • Marc Kvansakul 's team at La Trobe University in Australia published in FEBS Letters this month their study of the interactions between the human Scribble protein and Adenomatous polyposis coli (APC). (sbgrid.org)
  • [ 16 ] In one study, arecoline was found to elevate the mRNA and protein expression of cystatin C, a nonglycosylated basic protein consistently up-regulated in a variety of fibrotic diseases, in a dose-dependent manner in persons with oral submucous fibrosis. (medscape.com)
  • Real-time PCR and ELISA was used to assess the status of Tregs and Th17 related transcription factors and cytokines in mRNA and protein level, respectively. (biomedcentral.com)
  • This protein also helps ensure that the chromosome number in cells produced through cell division is correct. (wikipedia.org)
  • The intracellular protein Dishevelled is common to both canonical and non-canonical signaling pathways, raising the question of how this mysterious protein acts at the signal crossroads. (biomedcentral.com)
  • The roles of the other proteins in the two pathways, and of the Dsh motifs, are discussed in the text. (biomedcentral.com)
  • Sars-Cov-2 Viral Strain With Deletion In A Protein, Possibly Reducing Fatalities. (abdur.ca)
  • The canonical Wnt pathway involves stabilization of the intracellular protein β-catenin . (biomedcentral.com)
  • Histological differentiation is a major pathological parameter associated with poor prognosis in patients with hepatocellular carcinoma (HCC) and the molecular signature underlying HCC differentiation may involve key proteins potentially affecting the malignant characters of HCC. (elsevierpure.com)
  • To develop prognostic biomarkers for HCC, we examined the global protein expression profiles of 45 surgically resected tissues, including 27 HCCs with different degree of histological differentiation, 11 adjacent nontumor tissues, and seven normal liver tissues. (elsevierpure.com)
  • 70 Mcl1 (myeloid cell leukemia differentiation protein 1) and other members of the BCL family, such as BCL-xl (B-cell lymphoma-extra-large), are also involved in resistance to Interleukin (IL)-6, stromal cell derived factor-1, and cytokine-induced apoptosis. (oncologynurseadvisor.com)
  • Sera were analysed by methylation-specific QPCR for three markers: adenomatous polyposis coli (APC), ras association domain family protein 1A (RASSF1A) and oestrogen receptor 1 (ESR1). (uantwerpen.be)
  • Retinoblastoma activity was measured by luciferase assays and proteins levels and activity were analysed by Western blot or immunohistochemistry. (biomedcentral.com)
  • Post-translational modifications (PTMs) of proteins, including phosphorylation, acetylation, ubiquitination, and SUMOylation, can regulate the function of proteins, determine the active state and subcellular location of proteins, and dynamically interact with other proteins related to carcinogenesis and progression ( 17 - 20 ). (frontiersin.org)
  • But it is becoming increasingly clear that protein subcellular localization can be extremely dynamic, allowing key proteins to play different roles in different compartments. (biomedcentral.com)
  • In addition, it was correlated with extra‑colonic phenotypes featuring duodenal polyposis and sebaceous cysts in this family. (spandidos-publications.com)
  • The full-length human protein comprises 2,843 amino acids with a (predicted) molecular mass of 311646 Da. (wikipedia.org)
  • Molecular characterization of this cell line revealed low expression levels and activity of Retinoblastoma protein and elevated basal levels of Erk1/2 activity and p70S6K expression and activity, which may be related to chemoresistance mechanisms. (biomedcentral.com)
  • Genetic testing encompasses a broad range of laboratory tests performed to analyze DNA, RNA, chromosomes, proteins, and certain metabolites using biochemical, cytogenetic, or molecular methods or a combination of these methods. (cdc.gov)
  • The HGUE-C-1 cell line was sensitive to erlotinib, gefitinib, NVP-BEZ235, rapamycin and trichostatin, among other drugs, but partially resistant to heat shock protein inhibitors and highly resistant to AZD-6244 and oxaliplatin, even though the patient from which this cell line was derived had not been exposed to these drugs. (biomedcentral.com)
  • Inhibitors of apoptosis proteins (IAPs), mainly survivin and X-linked inhibitor of apoptosis (XIAP) prevent the processing of procaspase 3 to caspase 3, thereby inhibiting apoptosis. (oncologynurseadvisor.com)
  • BRAF is a protein kinase and part of the MAP kinase signalling cascade which involves transduction of a growth signal from the cell membrane to the nucleus via a chain of protein kinases and is responsible for cellular proliferation and survival. (hindawi.com)
  • It is an integral component of the MAP (mitogen-activated protein) kinase cascade. (hindawi.com)
  • MKPs (mitogen-activated protein kinase phosphatases). (abdur.ca)
  • Siah proteins have been described to be both oncogenic and tumor suppressive in a variety of patient cohort studies and animal cancer models. (aacrjournals.org)
  • Furthermore, key experiments needed to close the gaps in our understanding of the role Siah proteins play in tumor progression are suggested. (aacrjournals.org)
  • Proteins associated with the Wnt/β-catenin pathway have been identified as SUMOylated substrates, and evidences suggested that the initiation and progression of cancers depended on the function of the SUMOylation ( 23 ). (frontiersin.org)
  • It is not known if this large predicted unstructured region from amino acid 800 to 2843 persists in vivo or would form stabilised complexes - possibly with yet unidentified interacting proteins. (wikipedia.org)
  • Signaling is initiated when the Wnt ligand binds to the Frizzled receptor on the cell membrane and the LDL receptor-associated protein 5/6 (LRP5/6) co-receptor. (frontiersin.org)
  • This mutation changes the sequence of amino acids in the resulting APC protein beginning at position 1309. (wikipedia.org)
  • This mutation results in the substitution of the amino acid lysine for isoleucine at position 1307 in the APC protein (also written as I1307K or Ile1307Lys). (wikipedia.org)
  • This mutation changes the sequence of the building blocks of proteins (amino acids) in the resulting APC protein. (medlineplus.gov)
  • This mutation replaces the amino acid isoleucine with the amino acid lysine at position 1307 in the APC protein (written as Ile1307Lys or I1307K). (medlineplus.gov)
  • The APC protein helps control how often a cell divides, how it attaches to other cells within a tissue, how the cell polarizes and the morphogenesis of the 3D structures, or whether a cell moves within or away from tissue. (wikipedia.org)
  • The APC protein accomplishes these tasks mainly through association with other proteins, especially those that are involved in cell attachment and signaling. (wikipedia.org)
  • This protein also helps ensure that the number of chromosomes in a cell is correct following cell division. (medlineplus.gov)
  • Wang W, Zhang L, Morlock L, Williams NS, Shay JW, De Brabander JK (2019) Design and Synthesis of TASIN Analogs Specifically Targeting Colorectal Cancer Cell Lines with Mutant Adenomatous Polyposis Coli (APC). (utsouthwestern.edu)
  • Since BCL2, a protein that indirectly inhibits cell apoptosis, is required for certain chemotherapies to work, the absence of BCL2 obscures their uses in prostate cancer. (oncologynurseadvisor.com)
  • The compendium encompasses sequence variants and proteins identified in more than 179 colorectal cancer cell lines and 13,711 tissue samples. (coloncanceratlas.org)
  • Jia-huai Wang, PhD, who led the work at Dana-Farber and Peking University in Beijing, is a corresponding author of a report published in the August 7 online edition of Neuron that explains how one guidance protein, netrin-1, can either attract or repel a brain cell to steer it along its course. (cancerlive.net)
  • Unsupervised classification grouped the 45 samples according to their histological classification based on the protein expression profiles created by laser microdissection and two-dimensional difference gel electrophoresis (2D-DIGE). (elsevierpure.com)
  • We next aimed to verify human IRIS-1/2 expression at the protein level. (abdur.ca)
  • Role of tau N-terminal motif in the secretion of human tau by End Binding proteins. (nih.gov)
  • Based upon sequence alignment, this antibody is predicted to react with isoforms 1-5 of human MFF protein. (abdur.ca)
  • Human serum albumin protein, 3D rendering. (abdur.ca)
  • The arrival of protein to the stomach further stimulates gastrin output. (msdmanuals.com)
  • The immune fluorescence analysis targeting N-protein of CCHFV. (abdur.ca)
  • However, bortezomib blocks all protein proteolysis by the proteasome without discrimination, causing various systemic toxicities and the development of resistance ( 1 ). (aacrjournals.org)
  • In recent years several studies have reported altered levels and activities of G-protein alpha subunits in depressive patients. (neurotransmitter.net)
  • Occupational physical activ- ity, not leisure-time physical activity, is associated with increased high-sensitivity C reactive protein levels. (abdur.ca)
  • Among the proteins identified, we focused on APC-binding protein EB1 (EB1) because it was dominantly expressed in poorly differentiated HCCs, which generally correlate with the poor prognosis in patients with HCC. (elsevierpure.com)
  • Adaptor proteins, GRB2 and SOS, are then sequentially recruited to stimulate the release of GDP from KRAS which permits binding of GTP to activate KRAS. (hindawi.com)
  • NMR resonance assignment and structure prediction of the C-terminal domain of the microtubule end-binding protein 3. (nih.gov)
  • This short protein cannot suppress the cellular overgrowth that leads to the formation of polyps, which can become cancerous. (wikipedia.org)
  • This short protein cannot suppress the cellular overgrowth that leads to the formation of abnormal growths (polyps) in the colon, which can become cancerous. (medlineplus.gov)
  • SUMOylation of proteins is an important mechanism in cellular responses to environmental stress ( 21 , 22 ). (frontiersin.org)