Search results for " Whole genome sequencing"

showing 5 items of 5 documents

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

2018

Abstract Introduction Breast cancer (BC) in men is a rare disease, whose etiology appears to be associated with genetic factors. Inherited mutations in BRCA1/2 genes account for about 10–15% of all cases. FANCM, functionally linked to BRCA1/2, has been suggested as a novel BC susceptibility gene. Our aim was to test if FANCM germline mutations could further explain male BC (MBC) susceptibility. Methods We screened the entire coding region of FANCM in 286 MBCs by a multi-gene panel analysis, and compared these data with available whole exome sequencing data from 415 men used as population controls. Moreover, we genotyped the two most frequent FANCM mutations (c.5101C>T and c.5791C>T) in 506 …

0301 basic medicineMaleMutation rateSettore MED/06 - Oncologia MedicaDNA Helicasemedicine.disease_causeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; Adult; Aged; Aged 80 and over; Biomarkers Tumor; Breast Neoplasms Male; Case-Control Studies; DNA Helicases; Genetic Predisposition to Disease; Genotype; Germ-Line Mutation; Humans; Italy; Male; Middle Aged; Risk Factors; Whole Genome Sequencing; Young Adult; Surgery0302 clinical medicineFANCMRisk Factorshemic and lymphatic diseasesGermline mutationGenotypeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; SurgeryFANCMMutation frequencyGeneticsAged 80 and overeducation.field_of_studyMutationGeneral MedicineMiddle AgedItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudieHumanAdultcongenital hereditary and neonatal diseases and abnormalitiesGenotypePopulationBreast Neoplasms Male03 medical and health sciencesYoung AdultGermline mutationBRCA1/2medicineBiomarkers TumorHumansGenetic Predisposition to DiseaseeducationGermline mutationsGerm-Line MutationAgedBreast cancer susceptibilityWhole Genome Sequencingbusiness.industryRisk FactorDNA Helicasesnutritional and metabolic diseasesmedicine.diseaseMale breast cancer030104 developmental biologyCase-Control StudiesSurgerybusiness
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Diversity, virulence, and antimicrobial resistance of the KPC-producing Klebsiella pneumoniae ST307 clone

2017

ABSTRACT : The global spread of Klebsiella pneumoniae producing Klebsiella pneumoniae carbapenemase (KPC) has been mainly associated with the dissemination of high-risk clones. In the last decade, hospital outbreaks involving KPC-producing K. pneumoniae have been predominantly attributed to isolates belonging to clonal group (CG) 258. However, results of recent epidemiological analysis indicate that KPC-producing sequence type (ST) 307, is emerging in different parts of the world and is a candidate to become a prevalent high-risk clone in the near future. Here we show that the ST307 genome encodes genetic features that may provide an advantage in adaptation to the hospital environment and t…

0301 basic medicineSettore MED/07 - Microbiologia E Microbiologia Clinicasiderophoreantibiotic resistancelong term survivalsequence analysisKlebsiella pneumoniaepolymerase chain reactionResponses to Human InterventionsDrug ResistanceGene TransferClone (cell biology)ST259bacterial proteinvirulence factorYersiniabactinGenomechemistry.chemical_compoundMicrobialPlasmidAntibioticsbacterial genomepathogenicitygenetics610 Medicine & healthgenome analysisCross InfectionMolecular EpidemiologyGenomeVirulencebiologydrug effectyersiniabactinBacterialDrug Resistance MicrobialGeneral MedicineKlebsiella infectionglycogen synthesisKlebsiella pneumoniaeEnglandItalyST307horizontal gene transferProteínas BacterianasResearch ArticleGene Transfer HorizontalVirulence FactorsSequence analysiscapsule030106 microbiologyVirulence610 Medicine & healthpulsed field gel electrophoresisColombiaCarbapenemase; siderophore; yersiniabactin; bacterial protein; beta lactamase; virulence factor antibiotic resistance; Article; bacterial strain; bacterial virulence; bacterium isolate; fimbria; genome analysis; glycogen synthesis; Klebsiella pneumoniae; long term survival; microbial diversity; nonhuman; plasmid; polymerase chain reaction; pulsed field gel electrophoresis; sequence analysis; whole genome sequencing; antibiotic resistance; bacterial genome; carbapenem-resistant Enterobacteriaceae; Colombia; cross infection; drug effect; England; genetic variation; genetics; horizontal gene transfer; human; Italy; Klebsiella infection; microbiology; molecular epidemiology; multilocus sequence typing; pathogenicity; virulence Bacterial Proteins; beta-Lactamases; Carbapenem-Resistant Enterobacteriaceae; Colombia; Cross Infection; Drug Resistance Microbial; England; Gene Transfer Horizontal; Genetic Variation; Genome Bacterial; Humans; Italy; Klebsiella Infections; Klebsiella pneumoniae; Molecular Epidemiology; Multilocus Sequence Typing; Virulence; Virulence Factors; Whole Genome SequencingArticlebeta-Lactamasesbeta lactamaseHorizontalMicrobiologyCarbapenemase03 medical and health sciencesAntibiotic resistanceBacterial ProteinsplasmidHumanshumanInfecciones por KlebsiellafimbrianonhumanWhole Genome Sequencingbacterial virulencebacterium isolatemicrobiologyGenetic Variationbacterial strainbiology.organism_classificationKlebsiella InfectionsEnterobacteriaceae Resistentes a los CarbapenémicosKPCCarbapenem-Resistant Enterobacteriaceae030104 developmental biologychemistrymicrobial diversityEpidemiología MolecularGenome BacterialWGSMultilocus Sequence Typing
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T-Cell Lymphoma Clonality by Copy Number Variation Analysis of T-Cell Receptor Genes

2021

Simple Summary T-cells defend the human body from pathogenic invasion via specific recognition by T-cell receptors (TCRs). The TCR genes undergo recombination (rearrangement) in a myriad of possible ways to generate different TCRs that can recognize a wide diversity of foreign antigens. However, in patients with T-cell lymphoma (TCL), a particular T-cell becomes malignant and proliferates, resulting in a population of genetically identical cells with same TCR rearrangement pattern. To help diagnose patients with TCL, a polymerase chain reaction (PCR)-based assay is currently used to determine if neoplastic cells in patient samples are of T-cell origin and bear identical (monoclonal) TCR rea…

0301 basic medicineclone (Java method)Cancer ResearchclonalityBiologylcsh:RC254-282Article03 medical and health sciences0302 clinical medicinemedicineT-cell lymphomaT-cell receptorCopy-number variationcopy number variation analysisGeneWhole genome sequencingwhole genome sequencingT-cell receptorlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseMolecular biology030104 developmental biologyOncology030220 oncology & carcinogenesisT-Cell Receptor GeneMonoclonalT-cell lymphomaClonality Copy number variation analysis T-cell lymphoma T-cell receptor Whole genome sequencingCancers
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Biochemical and molecular characterization of three serologically different Vibrio harveyi strains isolated from farmed Dicentrarchus labrax from the…

2022

AbstractVibrio harveyi is recognized as one of the major causes of vibriosis, a disease that threatens the long-term sustainability of aquaculture. Current research shows that the Mediterranean strains of V. harveyi are serologically heterogeneous, though research comparing the traits of different strains is scarce. This study aims to describe the biochemical, physiological and genetic characteristics of three serologically different strains of V. harveyi isolated from farmed European Sea bass (Dicentrarchus labrax) from the Adriatic Sea. A total of 32 morphological and biochemical markers were examined and, the susceptibility to 13 antimicrobials tested, and then compared the results of hi…

BioquímicaFish DiseasesMultidisciplinaryVibrio InfectionsMicrobiologiaAnimalsVibrio harveyi whole genome sequencing Adriatic Sea serotypesBassAquacultureVibrioScientific reports
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Production of Haploid and Doubled Haploid Lines in Nut Crops: Persian Walnut, Almond, and Hazelnut

2021

This chapter deals with induction of haploidy via parthenogenesis in Persian walnut and via microspore embryogenesis in almond and hazelnut. Haploid induction through in situ parthenogenesis using pollination with irradiated pollen to stimulate the embryogenic development of the egg cell, followed by in vitro culture of the immature haploid embryos. Microspore embryogenesis allows the induction of immature pollen grains (microspores), to move away from the normal gametophytic developmental route in the direction of the sporophytic one, yielding homozygous organisms (embryos in this case). Unlike other fruit crops (such as Citrus), regeneration of entire plants has not yet been obtained in o…

Egg cellPollinationAndrogenesis Anther culture Flow cytometry Haploid Homozygosity Isolated microspore culture Microspore-derived embryos Parthenogenesis Pollen irradiation Whole genome sequencing.food and beveragesEmbryoParthenogenesisBiologymedicine.disease_causeSettore AGR/03 - Arboricoltura Generale E Coltivazioni ArboreeHorticulturemedicine.anatomical_structureMicrosporePollenmedicineDoubled haploidyPloidy
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