• Mutations in ciliary protein genes can lead to dysfunctional or absent cilia and are the cause of a large group of heterogeneous diseases known as ciliopathies. (bvsalud.org)
  • Mutations of the VHL gene are associated with Von Hippel-Lindau disease. (standardofcare.com)
  • In VHL disease, genetic mutations cause alterations to the pVHL protein, usually to the HIF1α binding site. (standardofcare.com)
  • For example, studies suggest that ccRCC is closely associated with tumor suppressor von-Hippel Lindau ( VHL ) gene mutations that lead to stabilization of hypoxia inducible factors (HIF-1 α and HIF-2 α , also known as HIF1A and EPAS1) in both sporadic and familial forms [ 5 , 6 ]. (hindawi.com)
  • Cancer is a complex genetic disease caused by abnormal alteration (mutations) in DNA sequences that leads to dyregulation of normal cellular processes thereby driving tumor growth. (intechopen.com)
  • Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)
  • Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
  • In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)
  • We observed gain of functions in VHL mutations, thereby stabilizing HIF2α protein and reprograming HIF2α genome-wide target gene transcriptional programs. (biomedcentral.com)
  • For instance, it can be activated by oncogenic mutations of PTEN, VHL, the RAS/mitogen-activated protein kinase (MAPK) pathway and the phosphorylation of phosphatidylinositol 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway. (spandidos-publications.com)
  • In August 2021, the U.S. Food and Drug Administration (FDA) approved belzutifan (Welireg), a new drug that has been shown in a clinical trial led by National Cancer Institute (NCI) researchers to shrink some tumors associated with VHL disease [1], which is caused by inherited mutations in the VHL tumor suppressor gene. (nih.gov)
  • They soon discovered that tumors from patients with sporadic clear cell kidney cancer also have mutations in this gene. (nih.gov)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • This is contrary to humans, where VHL-1 mutations cause a disease characterized by angiomas, renal carcinomas and various other tumors as a direct result of aberrant HIF-1 activation. (uw.edu)
  • Targeted protein degradation (TPD) is an emerging therapeutic strategy that would benefit from new chemical entities with which to recruit a wider variety of ubiquitin E3 ligases to target proteins for proteasomal degradation. (bvsalud.org)
  • The process of the degradation of the hypoxia-inducible factors (HIFs) that mainly regulate oxygen and iron dependent activity of enzymes require DHL tumor suppressor. (standardofcare.com)
  • The main action of the VHL protein is ubiquitin ligase activity resulting in protein degradation. (standardofcare.com)
  • Further analysis revealed that celastrol inhibited HIF-1α protein synthesis, without affecting the expression level of HIF-1α mRNA or degradation of HIF-1α protein. (spandidos-publications.com)
  • The modified HIF-1α interacts with Von Hippel-Lindau (VHL), which is part of the E3 ubiquitin ligase complex targeting HIF-1α for 26S proteasomal degradation. (spandidos-publications.com)
  • The ubiquitin-specific protease 28 (USP28) is an oncogenic deubiquitinase, which plays a critical role in tumorigenesis via antagonizing the ubiquitination and degradation of tumor suppressor protein FBXW7-mediated oncogenic substrates. (biomedcentral.com)
  • Indeed, the E3 ubiquitin ligase, von Hippel-Lindau (VHL) mediates the ubiquitination and degradation of HIF-1α in normoxia condition [ 3 ]. (biomedcentral.com)
  • However, it is well-known that the HIF-1α protein was accumulated with increased protein stability during hypoxia, suggesting that either the elements that promoted HIF-1α degradation were repressed or that stabilized HIF-1α were enhanced. (biomedcentral.com)
  • 5 4 Succinate functions as a competitive inhibitor for prolyl hydroxylase domain (PHD) proteins that are central to degradation of hypoxia-inducible factor (HIF)-1α subunit. (haematologica.org)
  • These studies focus on the degradation of specific disease related proteins and the general status of the UPS under conditions of an excess of aberrant or misfolded proteins. (5dok.org)
  • To evaluate the capacity of the UPS to degrade disease related proteins, polyglutamine (polyGln) proteins were targeted for proteasomal degradation. (5dok.org)
  • However, aggregation of the aggregation- prone polyGln proteins prevented proteasomal degradation. (5dok.org)
  • Thus the formation of aggregates renders these toxic proteins resistant to proteasomal degradation and initiates the accumulation of polyGln proteins and polyGln-interacting proteins. (5dok.org)
  • A mutant form of Ub, UBB +1 is another protein that can resist proteasomal degradation. (5dok.org)
  • Since the UPS is also responsible for the degradation of ER proteins we investigated the effect of ER stress on the functionality of the UPS. (5dok.org)
  • However, in these diseases the UPS is compromised and some proteins might resist degradation. (5dok.org)
  • degradation of polyglutamine proteins. (5dok.org)
  • When oxygen is plentiful, HIF-1 is ubiquitinated and targeted for degradation by the von Hippel Lindau protein (VHL-1), which inactivates HIF-1. (uw.edu)
  • Cermakova K, Hodges HC: "Next-Generation Drugs and Probes for Chromatin Biology: From Targeted Protein Degradation to Phase Separation. (antikoerper-online.de)
  • Li X, Song Y: "Proteolysis-targeting chimera (PROTAC) for targeted protein degradation and cancer therapy. (antikoerper-online.de)
  • Proto-Oncogene Proteins c-mdm2" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • This graph shows the total number of publications written about "Proto-Oncogene Proteins c-mdm2" by people in this website by year, and whether "Proto-Oncogene Proteins c-mdm2" was a major or minor topic of these publications. (umassmed.edu)
  • Below are the most recent publications written about "Proto-Oncogene Proteins c-mdm2" by people in Profiles. (umassmed.edu)
  • Aurora kinase C is a chromosomal passenger protein that interacts with aurora kinase B in the regulation of MITOSIS. (lookformedical.com)
  • An aurora kinase that is a component of the chromosomal passenger protein complex and is involved in the regulation of MITOSIS. (lookformedical.com)
  • An serine-threonine protein kinase that requires the presence of physiological concentrations of CALCIUM and membrane PHOSPHOLIPIDS. (lookformedical.com)
  • The sensitivity of the enzyme can also be increased by PHORBOL ESTERS and it is believed that protein kinase C is the receptor protein of tumor-promoting phorbol esters. (lookformedical.com)
  • This protein complex has also been implicated in regulating a number of signaling pathways, including Wnt, mammalian target of rapamycin (mTOR), STAT3, cMET, phosphoinositide 3-kinase (PI3K)/AKT, G protein-coupled receptor (GPCR), and epidermal growth factor receptor (EGFR), as well as in the localization and activity of cystic fibrosis transmembrane conductance (CFTR). (basicmedicalkey.com)
  • Increased cAMP promotes protein kinase A activity, among other effectors, and, in turn, leads to cyst growth by promoting proliferation and fluid secretion of cyst-lining cells through chloride and aquaporin channels in ADPKD kidneys. (basicmedicalkey.com)
  • VEGF-induced pMF was attenuated by the MEK/ERK inhibitor U0126 [1,4-diamino-2,3-dicyano-1,4-bis( o -aminophenylmercapto)butadiene] and was abolished by the phosphotidinositol 3 kinase/Akt inhibitor LY294002 [2-(4-morpholinyl)-8-phenyl-1(4 H )-benzopyran-4-one hydrochloride], demonstrating that ERK mitogen-activated protein kinases and Akt are both required for full expression of VEGF-induced pMF. (jneurosci.org)
  • Markedly, we found that suppression of HIF-1α accumulation by celastrol correlated with strong dephosphorylation of mammalian target of rapamycin (mTOR) and its effectors, ribosomal protein S6 kinase (p70S6K) and eukaryotic initiation factor 4E (eIF4E) and extracellular signal-regulated kinase (ERK), pathways known to regulate HIF-1α expression at the translational level. (spandidos-publications.com)
  • The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. (cancerindex.org)
  • A-kinase anchoring protein 11 [Sourc. (gsea-msigdb.org)
  • Phosphorylation of the Mdm2 oncoprotein by the c-Abl tyrosine kinase regulates p53 tumor suppression and the radiosensitivity of mice. (umassmed.edu)
  • pVHL is best known as the substrate-binding subunit of an E3 ubiquitin ligase, which binds the transcription elongation factors C and B (elongin C/B) forms the VCB complex, then interacts with Cullin-2 (CUL2) and the RING finger protein RBX1 forming the VCB-CR complex(3). (biomedcentral.com)
  • A common feature in many of these diseases is the presence of aggregated proteins that are covalently linked to ubiquitin (Ub). (5dok.org)
  • The ubiquitin-proteasome system (UPS) is the main pathway in the cell for the elimination of aberrant or misfolded proteins. (5dok.org)
  • Die posttranslationale Anlagerung von Ubiquitin an wird Ubiquitinierung genannt. (antikoerper-online.de)
  • Die Ubiquitinierung umfasst drei Hauptschritte: Aktivierung, Konjugation und Ligation, die von Ubiquitin-aktivierenden Enzymen (E1), Ubiquitin-konjugierenden Enzymen (E2) und Ubiquitin-Ligasen (E3) durchgeführt werden. (antikoerper-online.de)
  • The ubiquitin-proteasome pathway: on protein death and cell life. (antikoerper-online.de)
  • This heterodimer of HIF activates genes that encode for proteins such as vascular endothelial growth factor (VEGF) and erythropoietin, proteins that are both involved in angiogenesis. (standardofcare.com)
  • Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. (mc1-r.com)
  • AXL significantly promotes tumour cell migration, invasion and metastasis, as well as angiogenesis. (cancerindex.org)
  • HIF2A interacts with cyclin D1, leading to increased survival due to lower rates of apoptosis and increased proliferation due to the activation of cyclin D1. (standardofcare.com)
  • Apoptosis regulatory proteins are delicately balanced. (bmj.com)
  • The key regulator of this process, hypoxia inducible factor 1 (HIF-1), can initiate apoptosis by inducing high concentrations of proapoptotic proteins, such as BNIP3, and can cause stabilisation of p53. (bmj.com)
  • Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is a tumor-selective apoptosis inducer that is expressed in natural killer cells, whose cytotoxicity is activated by interferon (IFN). (oncotarget.com)
  • Bcl2/adenovirus EIB 19kD-interacting protein 3 (BNIP3) is a cell death factor that is a member of the Bcl-2 proapoptotic family recently shown to induce necrosis rather than apoptosis. (ox.ac.uk)
  • These VHL alterations lead to a predisposition to a somatic second hit, causing of a variety of tumors and fluid filled cysts, sporadic tumors, such as cerebellar hemangioblastoma, pheochromocytoma, clear cell renal cell carcinoma, familial erythrocytosis type two, that result in increased expression of HIF target genes. (standardofcare.com)
  • The VHL syndrome, generally caused by hereditary allele inactivation plus a tissue somatic mutation, is characterized by the occurrence of malignancies and increased expression of oncogenic genes, including VEGF, that allow tumor development and progression. (standardofcare.com)
  • The objective of this work is to identify dysregulated genes and pathways of ccRCC temporally according to systematic tracking of the dysregulated modules of reweighted Protein-Protein Interaction (PPI) networks. (hindawi.com)
  • In addition, a PPI network can be modeled as an undirected graph, where vertices represent proteins and edges represent interactions between proteins, to prioritize disease associated genes or pathways and to understand the modus operandi of disease mechanisms [ 9 , 10 ]. (hindawi.com)
  • Mechanistic investigations demonstrated the key role of the identified genes in the balance between death and survival of tumor cells. (biomedcentral.com)
  • This compound markedly decreased the hypoxia-induced accumulation of HIF-1α protein dose-dependently, whereas it did not affect the expressions of HIF-1β and topoisomerase-I (topo‑I). Furthermore, celastrol prevented hypoxia-induced expression of HIF-1 target genes for vascular endothelial growth factor (VEGF) and erythropoietin (EPO). (spandidos-publications.com)
  • This study shows that genes regulating cell death can be hypoxically induced and are overexpressed in clinical tumors. (ox.ac.uk)
  • By studying the patients and the genetic patterns of tumors collected from these patients, the researchers hypothesized that they could find genes responsible for kidney cancer. (nih.gov)
  • At least one of these genes, flavin-monooxygenase-2, is a well-conserved protein known to be involved in xenobiotic metabolism. (uw.edu)
  • Here we demonstrate a critical role for the von Hippel-Lindau (VHL) tumour suppressor gene product pVHL in HIF-1 regulation. (ncl.ac.uk)
  • The Von Hippel-Lindau tumor suppressor also known as pVHL is a protein that, is encoded by the VHL gene. (standardofcare.com)
  • Hydroxylation of HIF creates a binding site for pVHL,the protein product of the VHL gene. (standardofcare.com)
  • pVHL directs the ubiquitylation of HIF1A, ensuring that this protein will be degraded by the proteasome. (standardofcare.com)
  • The resultant 2 encoded von Hippel-Lindau protein (pVHL) products, a 30-kD full-length form (p30) and a 19-kD form (p19), shuttle between the nucleus and the cytoplasm, where they form complexes with other proteins. (medscape.com)
  • Germline heterozygous mutation of the VHL tumor suppressor gene, located on 3p25.3, encoding VHL tumor suppressor protein (pVHL), has been identified as the leading cause of VHL disease. (biomedcentral.com)
  • von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems that have subsequent potential for malignant change. (medscape.com)
  • Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic neoplastic disorder caused by germline mutation or deletion of the VHL gene, characterized by the tendency to develop multisystem benign or malignant tumors. (biomedcentral.com)
  • Invasion and metastasis are key features that distinguish malignant tumors-cancer proper-from benign growths. (bbvaopenmind.com)
  • Clinical hallmarks of VHL disease include the development of retinal and central nervous system (CNS) hemangioblastomas (blood vessel tumors), pheochromocytomas , multiple cysts in the pancreas and kidneys, and an increased risk for malignant transformation of renal cysts into renal cell carcinoma. (medscape.com)
  • VHL disease encompasses various types of tumors, including retinal or central nervous system hemangioblastoma (RH or CNSH), clear cell renal cell carcinoma (RCC), pheochromocytoma (PHE), multiple pancreatic cysts or tumors (PCT), epididymal or broad ligament cystadenomas and endolymphatic sac tumor. (biomedcentral.com)
  • This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair or meiotic recombination processes. (wikipedia.org)
  • This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. (avivasysbio.com)
  • The von Hippel-Lindau (VHL) gene (VHL) is located on the short (p) arm of chromosome 3 (3p25.3) and encodes a ubiquitously expressed 4.7 kilobase (kb) messenger ribonucleic acid (mRNA) that encodes 3 alternately spliced exons. (medscape.com)
  • The Von Hippel-Lindau syndrome (VHL) is a dominantly inherited hereditary cancer syndrome. (standardofcare.com)
  • The VHL syndrome is inherited by one mutation in the VHL protein that causes the protein's normal function to be lost or altered. (standardofcare.com)
  • Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. (mc1-r.com)
  • Gain of function of a metalloproteinase associated with multiple myeloma, bicuspid aortic valve, and Von Hippel-Lindau syndrome. (salvesenlab.org)
  • In vivo studies further confirmed the inhibitory effect of celastrol on the expression of HIF-1α proteins, leading to a decreased growth of Hep3B cells in a xenograft tumor model. (spandidos-publications.com)
  • A marked increase in IFN-induced DR4 protein expression after tocilizumab treatment was observed by immunohistochemical staining in the tumor from the mice xenograft model. (oncotarget.com)
  • Xenograft tumor growth was slightly inhibited by si-Vav3/atelocollagen complex injection and combined use of si-Vav3/atelocollagen complex and docetaxel produced a greater effect than docetaxel alone. (biomedcentral.com)
  • Topology of autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) proteins polycystin-1, polycystin-2, and fibrocystin/polyductin (FPC) are shown. (basicmedicalkey.com)
  • Low ATP concentrations in hypoxic tumour cells disable the apoptotic cascade and induce cell death by necrosis. (bmj.com)
  • The foamy stromal cells between the capillaries stain positive for glial fibrillary acid protein and neuron-specific enolase. (medscape.com)
  • Notably, surgical treatment has also the potential advantage of removing chemoradioresistant residual tumor foci, with a higher local control and possibly better survival, since resistance of cancer cells to CRT remains a major therapeutic drawback. (biomedcentral.com)
  • These compounds generally penetrate cell membranes, act on specific target proteins in cells, regulate intracellular signaling pathways, and cause some changes in cell phenotype. (chemscene.com)
  • Here, we report that USP28 is a SUMOylated protein in normoxia with moderate deubiquitinating activity towards HIF-1α in vitro, while hypoxia and HIF-1α activate USP28 through SENP1-mediated USP28 deSUMOylation to further accumulate HIF-1α protein in cells. (biomedcentral.com)
  • We investigated the effect of suppressor of cytokine signaling (SOCS) 3 on the expression of TRAIL receptors (DR4) and on TRAIL sensitivity in renal cell carcinoma (RCC) cells. (oncotarget.com)
  • Solid tumors contain regions of hypoxia, a physiological stress that can activate cell death pathways and, thus, result in the selection of cells resistant to death signals and anticancer therapy. (ox.ac.uk)
  • Using cDNA arrays and serial analysis of gene expression, we found that hypoxia induces up-regulation of BNIP3 and its homologue, Nip3-like protein X. Analysis of human carcinoma cell lines showed that they are hypoxically regulated in many tumor types, as well as in endothelial cells and macrophages. (ox.ac.uk)
  • Regulation was hypoxia inducible factor-1-dependent, and hypoxia inducible factor-1 expression was suppressed by von Hippel-Lindau protein in normoxic cells. (ox.ac.uk)
  • Calebin-A induced death of malignant peripheral nerve sheath tumor cells by activation of histone acetyltransferase. (cancerindex.org)
  • A small proportion of these tumors show large ducts lined by neoplastic cells, the so-called large-duct variant of adenocarcinoma. (coek.info)
  • Solid tumors such as carcinomas of the lung, colon, breast, or prostate start in epithelial cells that line the surface of the bronchia, the intestinal mucosa, or the alveoli of fl uid secretion in the breast and prostate. (bbvaopenmind.com)
  • A further conversion of the malignant tumor leads to the formation of highly motile and invasive cancer cells, and the recruitment of normal cells that act as helpers in tumor dissemination. (bbvaopenmind.com)
  • Sporadic mutation in the second copy of the VHL protein can lead to carcinomas, in particular hemangioblastomas affecting the liver and kidneys, renal and vaginal clear cell adenocarcinomas. (standardofcare.com)
  • A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors. (lookformedical.com)
  • Mammalian aurora-A belongs to a multigenic family of mitotic serine/threonine kinases comprising two other members: aurora-B and aurora-C. In this review we will focus on aurora-A that starts to localize to centrosomes only in S phase as soon as centrioles have been duplicated, the protein is then degraded in early G1. (lookformedical.com)
  • Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC. (univ-rennes.fr)
  • Triphasic pancreatic-protocol computed tomography is the best initial diagnostic test for pancreatic cancer, and on this modality these tumors appear as a hypodense solid mass. (coek.info)
  • The availability of tools to interrogate the transcriptome and proteome, such as expression profiling, have identified a substantial library of products that could aid in distinguishing a well-differentiated pancreatic carcinoma from a benign pancreatic lesion.2 Many of these proteins can be detected immunohistochemically and are thus available to the practicing pathologist (Table 2).3 Some of these markers have been validated on biopsy specimens as well. (coek.info)
  • In this report, we describe a testis zinc finger protein (Tzfp) that binds to the upstream flanking sequence of the Aie1 gene. (lookformedical.com)
  • Clear cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer and accounts for approximately 60% to 70% of all renal tumors [ 1 ]. (hindawi.com)
  • Clear cell renal cell carcinoma (ccRCC) is the seventh most frequently diagnosed tumor in adults in Europe and represents approximately 2.5% of cancer deaths. (cancerindex.org)
  • Renal cell carcinoma (RCC) is the most common malignant kidney tumor and has a high incidence rate. (biomedcentral.com)
  • The molecular biology underlying renal cell carcinoma (RCC) development and progression has been a key milestone in the management of this type of tumor. (cancerindex.org)
  • Early identification affected individuals with asymptomatic VHL disease-associated tumors and mutation carriers via genetic recognition and rational medical interventions would improve patients' survival rates and quality of life. (biomedcentral.com)
  • Glucose, glutamine, fatty acids, and amino acids are the primary drivers of tumor growth and act as substrates for the hexosamine biosynthetic pathway (HBP). (biomedcentral.com)
  • There's exciting news for people with von Hippel-Lindau (VHL) disease , a rare genetic disorder that can lead to cancerous and non-cancerous tumors in multiple organs, including the brain, spinal cord, kidney, and pancreas. (nih.gov)
  • And Peter Ratcliffe, University of Oxford, United Kingdom, discovered that HIF plays a role in blood vessel development and tumor growth. (nih.gov)
  • The PC1/2 protein complex may also directly regulate a number of cellular functions including the cell cycle, the actin cytoskeleton, planar cell polarity (PCP), and cell migration. (basicmedicalkey.com)
  • These nutrient-driven post-translational modifications are highly altered in cancer and regulate protein functions in various cancer-associated processes. (biomedcentral.com)
  • An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation. (bvsalud.org)
  • Understanding the proteins that regulate the 5-HT1A promoter will lead to insights on receptor regulation and provide new therapeutic targets relevant to depression, anxiety, obsessive compulsive disorder and other mental illnesses. (vdocuments.net)
  • HIF-1-dependent regulation of hypoxic induction of the cell death factors BNIP3 and NIX in human tumors. (ox.ac.uk)
  • The PC1/2 protein complex serves as a mechanosensor or chemical sensor and regulates calcium and G-protein signaling. (basicmedicalkey.com)
  • GEMC1 is a 334 amino acid nuclear protein that regulates DNA replication by promoting the recruitment of Cdc45 onto replication origins. (mc1-r.com)
  • Biofilm prevention, inhibition and controlling process (antibiofilm) using natural or synthetic peptides derived from 2S-sulfur-rich seed storage protein 2-like protein or their peptidomimetic (synthetic) derivatives. (univ-rennes.fr)
  • The most relevant articles summarising existing knowledge on RCC genomics, including tumour cell evolution and progression, were selected for this review. (springer.com)
  • Hypoxia is an important micro-environmental factor in promoting tumor progression. (spandidos-publications.com)
  • Kaelin and Ratcliffe simultaneously showed that the VHL protein tags a subunit of HIF for destruction when oxygen levels are high. (nih.gov)
  • Aurora A overexpression in many malignant tumor types suggests that it may be directly involved in NEOPLASTIC CELL TRANSFORMATION. (lookformedical.com)
  • Tumors involving other organs and the CNS (brain, spinal cord) are present in 25% of patients with VHL disease. (medscape.com)
  • The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. (ayassbioscience.com)
  • To identify specific markers of CRT response, we compared pretreatment biopsies from LACC patients with pathological complete response (sensitive) with those from patients showing macroscopic residual tumor (resistant) after neoadjuvant CRT, using a proteomic approach integrated with gene expression profiling. (biomedcentral.com)
  • This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. (ayassbioscience.com)
  • Der gezielte Proteinabbau mit Hilfe der PROTAC-Technologie entwickelt sich zu einer neuartigen therapeutischen Methode, um Krankheiten wie Krebs zu bekämpfen, die durch die abnorme Expression eines krankheitsverursachenden Proteins verursacht werden. (antikoerper-online.de)
  • To evaluate the mechanisms underlying the role of AXL signalling in tumour metastasis, we screened a phage display library to generate a novel human monoclonal antibody, named DAXL-88, that recognizes both human and murine AXL. (cancerindex.org)
  • William Kaelin, Jr. was in 1995 engaged in the study of the von Hippel-Lindau tumor suppressor gene, and after isolation of the first full-length clone of the gene showed that it could suppress tumor growth in VHL mutant tumorigenic cell lines. (nobelprize.org)
  • In the normal cell with active VHL protein, HIF alpha is regulated by hydroxylation in the presence of oxygen. (standardofcare.com)
  • The Von Hippel-Lindau ( VHL ) tumour suppressor gene undergoes bi-allelic knockout in the vast majority of clear cell RCCs. (springer.com)
  • The hexosamine biosynthetic pathway (HBP) and its end product uridine diphosphate N-acetyl glucosamine (UDP-GlcNAc) are important regulators of cell signaling that favor tumor promotion. (biomedcentral.com)
  • GPR91 is a G protein-coupled cell surface receptor for extracellular succinate (Sucnr1). (haematologica.org)
  • A novel human anti-AXL monoclonal antibody attenuates tumour cell migration. (cancerindex.org)
  • Nevertheless, in neurodegenerative diseases these proteins accumulate with disastrous consequences for neurons, eventually leading to cell death. (5dok.org)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Cold Shock Domain Containing Protein E1, RNA Binding (CSDE1) in Tissue homogenates, cell lysates and other biological fluids. (worldcarecouncil.org)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Cold Shock Domain Containing Protein E1, RNA Binding (CSDE1) in samples from Tissue homogenates, cell lysates and other biological fluids with no significant corss-reactivity with analogues from other species. (worldcarecouncil.org)
  • Description: A sandwich ELISA kit for detection of Cold Shock Domain Containing Protein E1, RNA Binding from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (worldcarecouncil.org)
  • Frequently, mesenchymal and hematopoietic progenitors are associated with the action of parathyroid hormone-related protein (PTHrP), a well-known regulator of tumour-associated bone destruction [ 1 ], as well as with the hypercalcemia seen in many types of cancer [ 2 ]. (aging-us.com)
  • Intra-tumour heterogeneity appears to hamper the clinical applicability of sparsely sampled tumours. (springer.com)
  • Clinical trials of belzutifan, including several supported by NCI, demonstrated potent anti-cancer activity in VHL-associated kidney cancer, as well as other VHL-associated tumors, leading to the aforementioned recent FDA approval. (nih.gov)
  • Although individualized targeted therapies are routinely used for patients with lung and breast tumors, personalized medicine has not achieved the same degree of success in the pancreas. (coek.info)
  • The central dogma in the study of protein folding suggests that the thermodynamically-favorable state of proteins under physiological conditions is their folded one. (tau.ac.il)
  • PC2 is a calcium-permeable six-transmembrane protein that structurally belongs to the transient receptor potential (TRP) cation channel family. (basicmedicalkey.com)
  • Structurally, it interacts with TSC1 through its N-terminus, which also contains a leucine zipper and coiled-coil region. (bvsalud.org)
  • PC1 is a large 11-transmembrane protein that functions like a G protein-coupled receptor. (basicmedicalkey.com)
  • Subsequently, with NCI support, William G. Kaelin Jr., Dana-Farber Cancer Institute, Boston, discovered that VHL is a tumor suppressor gene that, when inactivated, leads to the accumulation of HIF. (nih.gov)
  • Accumulation of succinate associates with succinylation, i.e. addition of succinyl group to a lysine residue of a protein. (haematologica.org)