Search results for "ML"

showing 10 items of 1465 documents

Nanoscale Engineering of Designer Cellulosomes.

2016

Biocatalysts showcase the upper limit obtainable for high-speed molecular processing and transformation. Efforts to engineer functionality in synthetic nanostructured materials are guided by the increasing knowledge of evolving architectures, which enable controlled molecular motion and precise molecular recognition. The cellulosome is a biological nanomachine, which, as a fundamental component of the plant-digestion machinery from bacterial cells, has a key potential role in the successful development of environmentally-friendly processes to produce biofuels and fine chemicals from the breakdown of biomass waste. Here, the progress toward so-called "designer cellulosomes", which provide an…

0301 basic medicineMaterials scienceMechanical EngineeringNanostructured materialsRational designNanotechnologyCellulosomesCharacterization (materials science)Cellulosome03 medical and health sciences030104 developmental biologyMechanics of MaterialsComponent (UML)Molecular motionEngineering toolGeneral Materials ScienceAdvanced materials (Deerfield Beach, Fla.)
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Spread of Klebsiella pneumoniae ST395 non-susceptible to carbapenems and resistant to fluoroquinolones in North-Eastern France

2017

Abstract Objectives Fluoroquinolones (FQs) are a potential treatment for infections caused by extended-spectrum β-lactamase (ESBL)-producing Enterobacteriaceae that are susceptible to these agents. Methods Owing to increasing non-susceptibility to carbapenems among Enterobacteriaceae, in this study FQ resistance mechanisms were characterised in 36 ertapenem-non-susceptible Klebsiella pneumoniae isolated from North-Eastern France in 2012. The population structure was described by pulsed-field gel electrophoresis (PFGE) and multilocus sequence typing (MLST). Results Among the 36 isolates, 13 (36%) carried a carbapenemase encoding-gene. Decreased expression of the OmpK35-encoding gene might be…

0301 basic medicineMicrobiology (medical)QRDRCarbapenemST395Klebsiella pneumoniaeR Factors030106 microbiologyImmunologyMicrobial Sensitivity Tests[ SDV.MP.BAC ] Life Sciences [q-bio]/Microbiology and Parasitology/BacteriologyMicrobiologybeta-LactamasesMicrobiologyPMQR03 medical and health scienceschemistry.chemical_compoundPlasmid[ SDV.MP ] Life Sciences [q-bio]/Microbiology and ParasitologyDrug Resistance Multiple BacterialmedicinePulsed-field gel electrophoresisHumansImmunology and AllergyCarbapenemComputingMilieux_MISCELLANEOUSbiologychlorhexidinebiology.organism_classificationmedicine.diseaseEnterobacteriaceaeVirology[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/BacteriologyAnti-Bacterial AgentsKlebsiella Infections3. Good healthKlebsiella pneumoniae[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyCarbapenemschemistryMultilocus sequence typingFranceKlebsiella pneumoniaErtapenemFluoroquinolonesMultilocus Sequence TypingPlasmidsmedicine.drugMLST
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Reconstruction of Diverse Verrucomicrobial Genomes from Metagenome Datasets of Freshwater Reservoirs

2017

The phylum Verrucomicrobia contains freshwater representatives which remain poorly studied at the genomic, taxonomic, and ecological levels. In this work we present eighteen new reconstructed verrucomicrobial genomes from two freshwater reservoirs located close to each other (Tous and Amadorio, Spain). These metagenomeassembled genomes (MAGs) display a remarkable taxonomic diversity inside the phylum and comprise wide ranges of estimated genome sizes (from 1.8 to 6 Mb). Among all Verrucomicrobia studied we found some of the smallest genomes of the Spartobacteria and Opitutae classes described so far. Some of the Opitutae family MAGs were small, cosmopolitan, with a general heterotrophic met…

0301 basic medicineMicrobiology (medical)Range (biology)030106 microbiologylcsh:QR1-502BiologyMicrobiologyGenomelcsh:Microbiology579 - Microbiología03 medical and health sciencesgenome streamliningCopiotrophfreshwater VerrucomicrobiaCladeGeneOriginal ResearchGeneticsmetagenomicsPhylumVerrucomicrobiabiology.organism_classification030104 developmental biologyrhodopsinMetagenomicsEvolutionary biologynitrogen fixationFrontiers in Microbiology
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Investigation on Quantitative Structure-Activity Relationships of 1,3,4-Oxadiazole Derivatives as Potential Telomerase Inhibitors.

2020

Background:Telomerase, a reverse transcriptase, maintains telomere and chromosomes integrity of dividing cells, while it is inactivated in most somatic cells. In tumor cells, telomerase is highly activated, and works in order to maintain the length of telomeres causing immortality, hence it could be considered as a potential marker to tumorigenesis.A series of 1,3,4-oxadiazole derivatives showed significant broad-spectrum anticancer activity against different cell lines, and demonstrated telomerase inhibition.Methods:This series of 24 N-benzylidene-2-((5-(pyridine-4-yl)-1,3,4-oxadiazol-2yl)thio)acetohydrazide derivatives as telomerase inhibitors has been considered to carry out QSAR studies…

0301 basic medicineModels MolecularTelomeraseQuantitative structure–activity relationship2D descriptorsDatasets as TopicQuantitative Structure-Activity RelationshipAntineoplastic Agents010402 general chemistry01 natural sciencesModels BiologicalAnticancer activityMLR03 medical and health sciencesInhibitory Concentration 50Drug DiscoveryLeast-Squares AnalysisTelomerase134-oxadiazolesOxadiazolesMolecular StructureDrug discoveryChemistryQSARQuantitative structureCombinatorial chemistry0104 chemical sciencesTelomerase inhibitors030104 developmental biology1 3 4 oxadiazole derivativesDrug Screening Assays AntitumorCurrent drug discovery technologies
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A clustering package for nucleotide sequences using Laplacian Eigenmaps and Gaussian Mixture Model.

2018

International audience; In this article, a new Python package for nucleotide sequences clustering is proposed. This package, freely available on-line, implements a Laplacian eigenmap embedding and a Gaussian Mixture Model for DNA clustering. It takes nucleotide sequences as input, and produces the optimal number of clusters along with a relevant visualization. Despite the fact that we did not optimise the computational speed, our method still performs reasonably well in practice. Our focus was mainly on data analytics and accuracy and as a result, our approach outperforms the state of the art, even in the case of divergent sequences. Furthermore, an a priori knowledge on the number of clust…

0301 basic medicineNematoda01 natural sciencesGaussian Mixture Model[STAT.ML]Statistics [stat]/Machine Learning [stat.ML][MATH.MATH-ST]Mathematics [math]/Statistics [math.ST]ComputingMilieux_MISCELLANEOUScomputer.programming_language[STAT.AP]Statistics [stat]/Applications [stat.AP]Phylogenetic treeDNA ClusteringGenomicsHelminth ProteinsComputer Science Applications[STAT]Statistics [stat]010201 computation theory & mathematics[INFO.INFO-MA]Computer Science [cs]/Multiagent Systems [cs.MA]Data analysisEmbeddingA priori and a posteriori[INFO.INFO-DC]Computer Science [cs]/Distributed Parallel and Cluster Computing [cs.DC]Health Informatics0102 computer and information sciences[INFO.INFO-SE]Computer Science [cs]/Software Engineering [cs.SE]Biology[INFO.INFO-IU]Computer Science [cs]/Ubiquitous Computing03 medical and health sciences[INFO.INFO-CR]Computer Science [cs]/Cryptography and Security [cs.CR]Laplacian EigenmapsAnimalsCluster analysis[SDV.GEN]Life Sciences [q-bio]/GeneticsModels Geneticbusiness.industryPattern recognitionNADH DehydrogenaseSequence Analysis DNAPython (programming language)Mixture model[INFO.INFO-MO]Computer Science [cs]/Modeling and SimulationVisualization030104 developmental biologyComputingMethodologies_PATTERNRECOGNITIONPlatyhelminths[INFO.INFO-ET]Computer Science [cs]/Emerging Technologies [cs.ET]Programming LanguagesArtificial intelligence[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]businesscomputerComputers in biology and medicine
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Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients

2016

In the last 20 years, following the identification of the BRCA1 and BRCA2 genes (hereinafter referred to as the BRCA genes), preventive pathways have been developed for the identification and clinical management of individuals at high risk of developing breast and ovarian cancer due to the presence of a pathogenic variant in either of these genes. These pathways are aimed at educating high-risk subjects on programs targeted toward early diagnosis and cancer risk reduction. The approval of a novel class of drugs, the PARP enzyme inhibitors, for the treatment of ovarian cancer patients carrying high-risk BRCA pathogenic variants has changed this scenario. BRCA testing, in addition to providin…

0301 basic medicineOncologyCancer ResearchGenes BRCA2Genes BRCA1Brca testingBRCA1; BRCA2; genetic testing; germline mutations; ovarian cancer; PARP inhibitors; somatic mutations; Oncology; Cancer ResearchSettore MED/03 - GENETICA MEDICA0302 clinical medicineClinical decision makingInformed consentsomatic mutationBRCA1 BRCA2 genetic testing germline mutations somatic mutations ovarian cancer PARP inibitorsDisease management (health)PARP inhibitorsOvarian NeoplasmsTumorInformed Consentmedicine.diagnostic_testDisease ManagementGeneral MedicinePrognosisBRCA1; BRCA2; genetic testing; germline mutations; ovarian cancer; PARP inhibitors; somatic mutations; Biomarkers Tumor; Clinical Decision-Making; Disease Management; Female; Genes BRCA1; Genetic Variation; Germ-Line Mutation; Humans; Informed Consent; Mutation; Ovarian Neoplasms; Prognosis; Genes BRCA2; Genetic Testing; Oncology; Cancer Researchovarian cancergermline mutationOncology030220 oncology & carcinogenesisgermline mutationsFemaleHumanmedicine.medical_specialtyPrognosiClinical Decision-MakingMEDLINEgenetic testing03 medical and health sciencesPARP inibitorsInternal medicinemedicineBiomarkers TumorHumansGerm-Line MutationGenetic testingGynecologyBRCA1; BRCA2; PARP inhibitors; genetic testing; germline mutations; ovarian cancer; somatic mutationsbusiness.industryOvarian NeoplasmGenetic Variationmedicine.diseaseBRCA1BRCA2030104 developmental biologyPARP inhibitorGenesMutationsomatic mutationsOvarian cancerbusinessBiomarkers
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Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants i…

2020

Simple Summary Many bilateral breast cancer patients with increased hereditary susceptibility to breast cancer result negative for BRCA1 or BRCA2 pathogenic variants and, thus, need a further genetic testing through a broader gene panel. Some patients with negative test result for BRCA1/2 pathogenic variants may harbor pathogenic variants in other breast cancer susceptibility genes, including ATM, CHEK2, PALB2, PTEN, TP53. Of course, the use of a multi-gene panel provides clinicians more information through a single test. Therefore, we focused on potential clinical impact of a NGS-based multi-gene panel testing in bilateral breast cancer patients, in order to evaluate the utility of perform…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyPTENSettore MED/06 - Oncologia MedicaPALB2<i>CHECK2</i><i>PTEN</i>lcsh:RC254-282GermlineArticle03 medical and health sciencesCHECK20302 clinical medicineGermline mutationBreast cancerbreast cancerInternal medicinemedicinePTENCancer Familyskin and connective tissue diseasesbilateral breast cancerCHEK2germline pathogenic variantbiologybusiness.industry<i>ATM</i>lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseBRCA1BRCA2<i>BRCA1</i>030104 developmental biologyOncology030220 oncology & carcinogenesisATMPALB2biology.proteinmulti-gene panel testingRAD51C<i>PALB2</i>germline pathogenic variantsbusiness<i>BRCA2</i>Cancers
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High BCR-ABL/GUS(IS) levels at diagnosis of chronic phase CML are associated with unfavorable responses to standard-dose imatinib

2017

Abstract Purpose: The approval of second-generation tyrosine kinase inhibitors (TKIs) for the first-line treatment of chronic myeloid leukemia (CML) has generated an unmet need for baseline molecular parameters associated with inadequate imatinib responses. Experimental Design: We correlated BCR–ABL/GUSIS and BCR–ABL/ABL transcripts at diagnosis with the outcome—defined by the 2013 European LeukemiaNet recommendations—of 272 patients newly diagnosed with CML receiving imatinib 400 mg/daily. Applying receiver-operating characteristic curves, we defined BCR–ABL/GUSIS and BCR–ABL/ABL levels associated with lower probabilities of optimal response, failure-free (FFS), event-free (EFS), transform…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyPathologyMyeloidBCR-ABL Diagnosis CMLDrug intolerance03 medical and health sciences0302 clinical medicinehemic and lymphatic diseasesInternal medicineDiagnosismedicineBCR-ABLCMLneoplasmsABLbusiness.industryCancerMyeloid leukemiaImatinibOncology cancer researchmedicine.diseaseLeukemia030104 developmental biologymedicine.anatomical_structureOncology030220 oncology & carcinogenesisbusinessTyrosine kinasemedicine.drug
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Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome

2021

About 10–20% of breast/ovarian (BC/OC) cancer patients undergoing germline BRCA1/2 genetic testing have been shown to harbor Variants of Uncertain Significance (VUSs). Since little is known about the prevalence of germline BRCA1/2 VUS in Southern Italy, our study aimed at describing the spectrum of these variants detected in BC/OC patients in order to improve the identification of potentially high-risk BRCA variants helpful in patient clinical management. Eight hundred and seventy-four BC or OC patients, enrolled from October 2016 to December 2020 at the “Sicilian Regional Center for the Prevention, Diagnosis and Treatment of Rare and Heredo-Familial Tumors” of University Hospital Policlini…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyendocrine system diseasesGenomeGermlinegenetic testing03 medical and health sciencesbreast cancer0302 clinical medicineBreast cancerInternal medicinemedicineClinical significanceskin and connective tissue diseasesRC254-282Original ResearchGenetic testingAnamnesismedicine.diagnostic_testbusiness.industryNeoplasms. Tumors. Oncology. Including cancer and carcinogensCancerBRCA1medicine.diseaseBRCA2ovarian cancer030104 developmental biologyOncology030220 oncology & carcinogenesisvariants of uncertain significance (VUS)Ovarian cancerbusinessFrontiers in Oncology
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Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer

2021

The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 genes with ovarian cancer risk among unselected patients in Poland. We genotyped 21 recurrent germline mutations in BRCA1 (9 mutations), BRCA2 (4 mutations), RAD51C (3 mutations), PALB2 (2 mutations), and CHEK2 (3 mutations) among 2270 Polish ovarian cancer patients and 1743 healthy controls, and assessed the odds ratios (OR) for developing ovarian cancer for each gene. Mutations were detected in 369 out of 2095 (17.6%) unselected ovarian cancer cases and 117 out of 1743 (6.7%) unaffected controls. The ovarian cancer risk was ass…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyendocrine system diseasesovarian cancer; recurrent mutations; BRCA1; BRCA2; RAD51C; PALB2; CHEK2; cancer riskPALB2<i>CHEK2</i>cancer riskBrca1 brca2lcsh:RC254-282Article03 medical and health sciences0302 clinical medicineGermline mutationInternal medicinemedicineskin and connective tissue diseasesCHEK2GeneCHEK2RAD51Cbusiness.industryOdds ratiomedicine.diseaseBRCA1lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensBRCA2female genital diseases and pregnancy complications<i>BRCA1</i>030104 developmental biologyovarian cancerOncology030220 oncology & carcinogenesisPALB2recurrent mutationsRAD51C<i>PALB2</i>Ovarian cancerbusiness<i>RAD51C</i><i>BRCA2</i>Cancers
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