Search results for "wild-type"

showing 10 items of 12 documents

Evaluation of Second-line Anti-VEGF after First-line Anti-EGFR Based Therapy in RAS Wild-Type Metastatic Colorectal Cancer: The Multicenter “SLAVE” S…

2020

: Background: The optimal anti-angiogenic strategy as second-line treatment in RAS wild-type metastatic colorectal cancer (mCRC) treated with anti-EGFR (Epidermal Growth Factor Receptor) based first-line treatment is still debated. Methods: This multicenter, real-world, retrospective study is aimed at evaluating the effectiveness of second-line Bevacizumab- and Aflibercept-based treatments after an anti-EGFR based first-line regimen. Clinical outcomes measured were: objective response rate (ORR), progression free survival (PFS), overall survival (OS) and adverse events (AEs) profiles. Results: From February 2011 to October 2019, 277 consecutive mCRC patients received Bevacizumab-based (228,…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyBevacizumabColorectal cancerAnti-angiogenicCetuximablcsh:RC254-282Article03 medical and health sciences0302 clinical medicineInternal medicinemedicinePanitumumabProgression-free survivalAfliberceptRAS wild-type mCRCPerformance statusCetuximabbusiness.industryPanitumumabanti-angiogenicsmedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensBevacizumabRegimen030104 developmental biologyOncology030220 oncology & carcinogenesissecond-line treatmentbusinessAfliberceptaflibercept; anti-angiogenics; bevacizumab; cetuximab; panitumumab; ras wild-type mcrc; second-line treatmentmedicine.drugCancers
researchProduct

The best strategy for RAS wild-type metastatic colorectal cancer patients in first-line treatment: A classic and Bayesian meta-analysis

2018

Background: At present, there is uncertainty on the best systemic treatment in first-line setting for RAS wild-type (WT) metastatic colorectal cancer (mCRC) patients. Indeed, several chemotherapy and biologics combinations showed an improvement on survival. We performed a systematic review with a pair-wise and bayesan meta-analysis to rank the best strategy for these patients. Methods: A systematic literature search through March 2017 was performed to evaluate the association between several treatment combinations and overall survival (OS), progression-free survival (PFS), overall response rate (ORR) and toxicity rate (TR) in RAS WT mCRC patients. Data were extracted from studies and pooled…

0301 basic medicineOncologymedicine.medical_specialtyColorectal cancermedicine.medical_treatmentBayesian probabilitySidednessDisease-Free Survival03 medical and health sciences0302 clinical medicineInternal medicineAntineoplastic Combined Chemotherapy ProtocolsmedicineHumansIn patientMeta-analysiSystemic chemotherapyNeoplasm MetastasisRAS wild-typeChemotherapyVbusiness.industryMetastatic colorectal cancerWild typeBayes TheoremHematologymedicine.diseaseNeoadjuvant TherapyFirst line treatmentMeta-analysisSafety profileGenes ras030104 developmental biologyOncology030220 oncology & carcinogenesisMeta-analysisSystemic chemotherapy.Colorectal Neoplasmsbusiness
researchProduct

Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
researchProduct

TP53 codon 72 polymorphism and cervical cancer

2009

Background Cervical cancer is caused primarily by human papillomaviruses (HPV). The polymorphism rs1042522 at codon 72 of the TP53 tumour-suppressor gene has been investigated as a genetic cofactor. More than 80 studies were done between 1998 and 2006, after it was initially reported that women who are homozygous for the arginine allele had a risk for cervical cancer seven times higher than women who were heterozygous for the allele. However, results have been inconsistent. Here we analyse pooled data from 49 studies to determine whether there is an association between TP53 codon 72 polymorphism and cervical cancer.Methods Individual data on 7946 cases and 7888 controls from 49 different st…

ArginineMESH : Polymorphism GeneticMESH: Genes p53MESH : AgedPhysiologyUterine Cervical NeoplasmsMESH: Papillomavirus Infections[ SDV.CAN ] Life Sciences [q-bio]/Cancer0302 clinical medicineGenotypeMESH : FemaleCervical cancerGeneticsMESH: AgedMESH : Papillomavirus Infections0303 health sciencesMESH: Middle AgedHPV infectionMESH: Genetic Predisposition to DiseaseMiddle AgedMESH : AdultWILD-TYPE P53Hardy–Weinberg principle3. Good healthMESH: Uterine Cervical NeoplasmsOncologyMESH: Young Adult030220 oncology & carcinogenesisMeta-analysisFemaleAdultAdolescentMESH : Uterine Cervical NeoplasmsMESH : Young Adult[SDV.CAN]Life Sciences [q-bio]/CancerMESH : Genes p5303 medical and health sciencesYoung AdultSQUAMOUS INTRAEPITHELIAL LESIONSMESH : AdolescentINDIAN WOMENMESH: Polymorphism GeneticmedicineHumansGenetic Predisposition to DiseaseMESH : Middle AgedAllele030304 developmental biologyAgedMESH: AdolescentMESH: HumansPolymorphism GeneticHUMAN-PAPILLOMAVIRUS TYPE-16business.industryP53 ARG72PRO POLYMORPHISMHEALTHY WOMENPapillomavirus InfectionsMESH : HumansMESH: AdultOdds ratiomedicine.diseaseGenes p53GENOTYPESHARDY-WEINBERG EQUILIBRIUMRISK-FACTORSMESH : Genetic Predisposition to DiseasebusinessMESH: FemaleHPV INFECTIONLancet Oncology
researchProduct

Cannabinoid control of brain bioenergetics: Exploring the subcellular localization of the CB1 receptor

2014

Brain mitochondrial activity is centrally involved in the central control of energy balance. When studying mitochondrial functions in the brain, however, discrepant results might be obtained, depending on the experimental approaches. For instance, immunostaining experiments and biochemical isolation of organelles expose investigators to risks of false positive and/or false negative results. As an example, the functional presence of cannabinoid type 1 (CB1) receptors on brain mitochondrial membranes (mtCB1) was recently reported and rapidly challenged, claiming that the original observation was likely due to artifact results. Here, we addressed this issue by directly comparing the procedures…

CB1 receptorWIN WIN55212-2Cannabinoid receptorBrain bioenergeticsLactate dehydrogenase Amedicine.medical_treatmentSDHADMSO dimethyl sulfoxideMitochondrionBiologySlp2 stomatin-like protein 2SDHA succinate dehydrogenase aTechnical ReportmedicineantibodieseducationReceptorKO knock-outMolecular Biologyeducation.field_of_studyelectron microscopyLDHa lactate dehydrogenase aDAB–Ni Ni-intensified 33ʹ-diaminobenzidine–4HClCell BiologySubcellular localizationWT wild-typemitochondriaBiochemistryCB1 cannabinoid type 1 receptorBSA bovine serum albuminCannabinoidorganelle purificationNeuroscienceImmunostainingMolecular Metabolism
researchProduct

Risultati di un test RFLP su ceppi vaccinali di Canine Distemper Virus in Italia

2013

Canine Distemper (CD) is a highly contagious and multisystemic viral disease of domestic and wild carnivores. A published Restriction Fragment Length Polymorphism (RFLP) test, based on the presence of a PsiI cleavage site on hemagglutinin (H) gene, allows a rapid differentiation of all currently used vaccine strains by virulent field strains. The present study describes the results of this test carried out on different CD vaccines available in Italy in 2010. RFLP has also revealed that the CD strain present in the Vanguard (Pfizer Animal Health) vaccine reacts as a wild-type strain. Moreover, genetic analysis of H gene sequence has showed that Vanguard vaccine strain does not cluster in the…

Canine Distemper virus Restriction Fragment Length Polymorphism vaccine strains wild-type strains
researchProduct

How Fragile We Are: Influence of Stimulator of Interferon Genes (STING) Variants on Pathogen Recognition and Immune Response Efficiency.

2022

AbstractThe STimulator of INterferon Genes (STING) protein is a cornerstone of the human immune response. Its activation by cGAMP upon the presence of cytosolic DNA stimulates the production of type I interferons and inflammatory cytokines which are crucial for protecting cells from infections. STING signaling pathway can also influence both tumor-suppressive and tumor-promoting mechanisms, rendering it an appealing target for drug design. In the human population, several STING variants exist and exhibit dramatic differences in their activity, impacting the efficiency of the host defense against infections. Understanding the differential molecular mechanisms exhibited by these variants is o…

General Chemical EngineeringPopulationLibrary and Information SciencesBiologyProinflammatory cytokinemutation.Immune system[CHIM]Chemical SciencesHumanseducationPathogenwild-typeeducation.field_of_studyWild typeMembrane ProteinsGeneral ChemistrySTING proteinImmunity InnateComputer Science ApplicationsStingmolecular dynamics simulationSettore CHIM/03 - Chimica Generale E InorganicaStimulator of interferon genesImmunologyInterferonsSignal transductionJournal of chemical information and modeling
researchProduct

Nouvelles perspectives concernant la structure et la fonction du domaine carboxyl terminal de Hfq

2015

Accumulating evidence indicates that RNA metabolism components assemble into supramolecular cellular structures to mediate functional compartmentalization within the cytoplasmic membrane of the bacterial cell. This cellular compartmentalization could play important roles in the processes of RNA degradation and maturation. These components include Hfq, the RNA chaperone protein, which is involved in the post-transcriptional control of protein synthesis mainly by the virtue of its interactions with several small regulatory ncRNAs (sRNA). The Escherichia coli Hfq is structurally organized into two domains. An N-terminal domain that folds as strongly bent β-sheets within individual protomers to…

IDP intrinsically-disordered proteinslcsh:Lifelcsh:QR1-502sub-membrane macromolecular assemblyPlasma protein bindingsRNA small non-coding RNABiochemistrylcsh:Microbiologyamyloid fibrilsProtein biosynthesis0303 health sciences[SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry Molecular Biology/Structural Biology [q-bio.BM]Escherichia coli Proteins030302 biochemistry & molecular biologyHfqCTRp Hfq C-terminal peptideFTIR Fourier transform infrared spectroscopyNTR N-terminal regionCompartmentalization (psychology)Cell biology[SDV.BBM.BP]Life Sciences [q-bio]/Biochemistry Molecular Biology/BiophysicsRNA Bacterialsmall non-coding ribonucleic acid (RNA)BiochemistryFSD Fourier self-deconvolutionTransfer RNAAmyloid fibrilProtein BindingBiophysicsBiologyHost Factor 1 Protein03 medical and health sciencesEscherichia coliThT thioflavin T[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyProtein Structure QuaternaryncRNA regulatory non-coding RNAPost-transcriptional regulationMolecular Biology030304 developmental biologyOriginal PaperC-terminusRNA[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyCell Biologycellular compartmentalizationWT wild-typeProtein Structure Tertiarylcsh:QH501-531Host Factor 1 ProteinCTR Hfq C-terminal regionribonucleic acid (RNA) processing and degradationBiophysicpost-transcriptional regulationBioscience Reports
researchProduct

EGFR gene copy number decreases during anti-EGFR antibody therapy in colorectal cancer

2018

Epidermal growth factor receptor (EGFR) gene copy number (GCN) increase is associated with a favorable anti-EGFR antibody treatment response in RAS wild-type metastatic colorectal cancer. However, there are limited and comparative data regarding the EGFR GCN in primary colorectal cancer tumors and corresponding metastases or the effect of anti-EGFR antibody treatment on EGFR GCN in recurrent disease. In addition, little is known about the potential EGFR GCN changes during anti-EGFR therapy in comparison with other treatment regimens. EGFR GCN was analyzed by EGFR immunohistochemistry-guided silver in situ hybridization in primary and corresponding recurrent local or metastatic tumors from 8…

Male0301 basic medicineTime FactorsColorectal cancerBLOCKADEGene DosageCetuximabmedicine.disease_causeAntineoplastic Agents Immunological0302 clinical medicinePREDICTS RESPONSEMedicineHETEROGENEITYBENEFITCopy-number variationEpidermal growth factor receptorIn Situ Hybridization FluorescenceAged 80 and overbiologyPanitumumabvasta-aineetMiddle AgedImmunohistochemistry3. Good healthErbB ReceptorsGene Expression Regulation NeoplasticTreatment OutcomeRAS MUTATIONSChemotherapy Adjuvant030220 oncology & carcinogenesisFemaleKRASAntibodyColorectal NeoplasmsAdultgene copy numbermedicine.drug_classCETUXIMAB THERAPY3122 Cancerssilver in situ hybridizationDown-Regulationcolorectal cancerIn situ hybridizationAdenocarcinomaMonoclonal antibodyta3111Pathology and Forensic MedicineProto-Oncogene Proteins p21(ras)03 medical and health sciencesKRASHumansWILD-TYPEMETAANALYSISAgedRetrospective Studiessyöpähoidotbusiness.industrymedicine.diseaseta3122Blockadeperäsuolisyöpä030104 developmental biologymonoclonal antibodyMutationCancer researchbiology.protein3111 BiomedicineNeoplasm Recurrence Localbusinessepidermal growth factor receptorACQUIRED-RESISTANCEHuman Pathology
researchProduct

The TP53 colorectal cancer international collaborative study on the prognostic and predictive significance of p53 mutation: influence of tumor site, …

2005

Purpose The aims of the TP53 Colorectal Cancer (CRC) International Collaborative Study were to evaluate the possible associations between specific TP53 mutations and tumor site, and to evaluate the prognostic and predictive significance of these mutations in different site, stage, and treatment subgroups. Patients and Methods A total of 3,583 CRC patients from 25 different research groups in 17 countries were recruited to the study. Patients were divided into three groups according to site of the primary tumor. TP53 mutational analyses spanned exons 4 to 8. Results TP53 mutations were found in 34% of the proximal colon tumors and in 45% of the distal colon and rectal tumors. They were assoc…

MaleOncologyCancer Researchmedicine.medical_specialtyPathologyRECTAL-CARCINOMATumor suppressor geneColorectal cancerLymphovascular invasionMICROSATELLITE INSTABILITYCELL LUNG-CANCERDNA Mutational AnalysisALLELIC LOSSDUKES STAGE-BMOLECULAR MARKERSInternal medicineAntineoplastic Combined Chemotherapy ProtocolsHumansMedicineGenetic Predisposition to DiseaseNeoplasm InvasivenessStage (cooking)neoplasmsSurvival rateAgedNeoplasm Stagingbusiness.industryCOLON-CANCERMicrosatellite instabilityZINC-BINDING DOMAINExonsMiddle AgedWILD-TYPE P53medicine.diseaseAdenocarcinoma MucinousPrimary tumorSurvival RateOncologyChemotherapy AdjuvantMutationAdenocarcinomaFemaleZINC-BINDING DOMAIN; CELL LUNG-CANCER; DUKES STAGE-B; WILD-TYPE P53; GENETIC PATHWAYS; COLON-CANCER; MICROSATELLITE INSTABILITY; MOLECULAR MARKERS; RECTAL-CARCINOMA; ALLELIC LOSSGENETIC PATHWAYSTumor Suppressor Protein p53Colorectal NeoplasmsbusinessFollow-Up Studies
researchProduct