Search results for " wild-type"

showing 9 items of 9 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
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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
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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
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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
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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
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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
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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
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Comprehensive analysis of interacting proteins and genome-wide location studies of the Sas3-dependent NuA3 histone acetyltransferase complex

2014

Highlights • We characterise Sas3p and Gcn5p active HAT complexes in WT and deleted TAP-strains. • We confirm that Pdp3p interacts with NuA3, histones and chromatin regulators. • Pdp3p MS-analysis reveals its phosphorylation, ubiquitination and methylation. • Sas3p can substitute Gcn5p in acetylation of histone H3K14 but not of H3K9. • Genome-wide profiling of Sas3p supports its involvement in transcriptional elongation.

nt nucleotidePTM post-translational modificationNuA3 histone acetyltransferase complexChIP-on-chip chromatin immunoprecipitation with genome-wide location arraysBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyChromatin remodelingHistonesHistone H3NuA3 nucleosomal acetyltransferase of histone H3Histone H1Histone H2APdp3TAP–MS strategyHistone codelcsh:QH301-705.5TAP tandem affinity purificationGeneticsRNAPII RNA polymerase IIHistone acetyltransferaseWCE whole cell extractSAGA Spt-Ada-Gcn acetyltransferaseWT wild-typeChromatinYeastCell biologyChIP-on-chiplcsh:Biology (General)Histone methyltransferasebiology.proteinHAT histone acetyltransferaseTSS transcription start siteFEBS Open Bio
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The AQP2 mutation V71M causesnephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog

2015

Graphical abstract

wt wild-typeGpA glycophorin AHM half-membrane-spanningurogenital systemQH301-705.5AquaporinNephrogenic diabetes insipidusAQP ER endoplasmic reticulumGlpF glycerol facilitatorActivityProtein oligomerizationResearch articleNDI nephrogenic diabetes insipidusAVP arginine vasopressinGlpF500 Natural sciences and mathematicsAQP aquaporin500 NaturwissenschaftenBiology (General)AVPR2 V2 receptorComputingMethodologies_COMPUTERGRAPHICSTM transmembraneFEBS Open Bio
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