Search results for "MINOR"

showing 10 items of 877 documents

The membrane-bound O-acyltransferase domain-containing 7 variant rs641738 increases inflammation and fibrosis in chronic hepatitis B.

2017

Chronic hepatitis B (CHB) is characterized by hepatic inflammation that promotes progression to cirrhosis and predisposes to the development of hepatocellular carcinoma (HCC). Subtle interindividual genetic variation as well as viral and environmental factors interact to determine disease progression between individuals. Recently, the rs641738 membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) polymorphism was demonstrated to influence histological liver damage in alcoholic liver disease, nonalcoholic fatty liver disease, and hepatitis C, but no data are available for CHB. We evaluated rs641738 influence on disease severity in a cohort of 1,101 patients with CHB. Forty-two patien…

0301 basic medicineLiver CirrhosisMaleAlcoholic liver diseaseCirrhosisSex FactorSeverity of Illness IndexCohort StudiesGene FrequencyFibrosisNon-alcoholic Fatty Liver DiseaseNonalcoholic fatty liver diseaseAge FactorProspective StudiesChronicMembrane ProteinMultivariate AnalysiAge FactorsHepatitis CSingle NucleotideMiddle AgedHepatitis BPrognosisHepatocellular carcinomaDisease ProgressionFemaleHumanAdultmedicine.medical_specialtyLogistic ModelPrognosiAcyltransferaseLiver CirrhosiAcetyltransferases; Acyltransferases; Adult; Age Factors; Cohort Studies; Confidence Intervals; Disease Progression; Female; Gene Frequency; Genetic Predisposition to Disease; Hepatitis B Chronic; Humans; Liver Cirrhosis; Logistic Models; Male; Membrane Proteins; Middle Aged; Multivariate Analysis; Non-alcoholic Fatty Liver Disease; Polymorphism Single Nucleotide; Prognosis; Prospective Studies; Risk Assessment; Severity of Illness Index; Sex FactorsPolymorphism Single NucleotideRisk Assessment03 medical and health sciencesHepatitis B ChronicSex FactorsSDG 3 - Good Health and Well-beingAcetyltransferasesInternal medicineAcetyltransferasemedicineConfidence IntervalsHumansGenetic Predisposition to DiseasePolymorphismHepatologybusiness.industryMembrane ProteinsHepatologymedicine.diseaseMinor allele frequencyProspective Studie030104 developmental biologyLogistic ModelsImmunologyMultivariate AnalysisCohort StudiebusinessConfidence IntervalAcyltransferasesHepatology (Baltimore, Md.)
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The rs11187533 C>T Variant of the <b><i>FFAR4</i></b> Gene Is Associated with Lower Levels of Fasting Glucose and De…

2020

<b><i>Introduction:</i></b> Genetic factors can modulate the development of associated comorbidities in obesity. It has been shown that loss-of-function variants of the <i>free fatty acid receptor 4 (FFAR4)</i> gene negatively affect obesity comorbidities such as insulin resistance and fatty liver disease. <b><i>Objective:</i></b> To test the relationships of metabolic factors in children with obesity with variants of the <i>FFAR4</i> gene. <b><i>Methods:</i></b> We performed an association study of 3 single nucleotide polymorphisms (SNPs) of <i>FFAR4</i> (rs10882273 T>C, rs1…

0301 basic medicineLiver injurymedicine.medical_specialty030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryFatty liverMedicine (miscellaneous)030209 endocrinology & metabolismSingle-nucleotide polymorphismmedicine.diseaseObesityMinor allele frequency03 medical and health sciences0302 clinical medicineInsulin resistanceEndocrinologyInternal medicineGenotypemedicineSNPbusinessAnnals of Nutrition and Metabolism
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Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe.

2015

The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variability of Italy. Their linguistic isolation from neighboring Italian populations and their documented migration history, make such minorities particularly effective for investigating the interplay between cultural, geographic and historical factors. Nevertheless, the extent of Arbereshe genetic relationships with the Balkan homeland and the Italian recipient populations has been only partially investi…

0301 basic medicineMaleGenetics; Genetics (clinical)PopulationY-chromosome variabilityPopulationSettore BIO/08 - ANTROPOLOGIAPopulation geneticsGenetic admixtureHomelandgenetics (clinical)Diversification (marketing strategy)Population stratificationChromosomesArticle03 medical and health sciencesGeneticModelsGenetic variationHumansgeneticseducationLanguageeducation.field_of_studygenetics (clinical); geneticsChromosomes Human YY chromosomeModels GeneticMediterranean Regionpopulation geneticsGenetic Variationlanguage.human_languageY-ChromosomeChromosomes Human Y; Female; Humans; Italy; Male; Mediterranean Region; Pedigree; Population; Genetic Variation; Language; Models GeneticPedigreeHuman Population Genetics Y chromosome Arbereshe linguistic minorities genetic isolates admixture simulations micro-evolutionary history Southern Italy030104 developmental biologyGeographyItalyEvolutionary biologylanguageArbereshe linguistic minorityArbreshFemaleSicilianSicily and CalabriaYHumanEuropean journal of human genetics : EJHG
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Evaluation of HIV transmission clusters among natives and foreigners living in Italy

2020

We aimed at evaluating the characteristics of HIV-1 molecular transmission clusters (MTCs) among natives and migrants living in Italy, diagnosed between 1998 and 2018. Phylogenetic analyses were performed on HIV-1 polymerase (pol) sequences to characterise subtypes and identify MTCs, divided into small (SMTCs, 2&ndash

0301 basic medicineMalelcsh:QR1-502SubtypeHIV InfectionsmigrantsBioinformatics; Cluster detection; Drug resistance testing; Human immunodeficiency virus (HIV); Migrants; Molecular epidemiology; Phylogenetic analysis; Risk factors; Subtypes; Transmission networks and clusters; Adult; Cohort Studies; Female; Genotype; HIV Infections; HIV-1; Humans; Italy; Male; Middle Aged; Sexual and Gender Minorities; pol Gene Products Human Immunodeficiency Virus; Emigrants and Immigrants; Phylogenylcsh:MicrobiologyMen who have sex with menCohort StudiesSexual and Gender Minorities0302 clinical medicineGenotypehuman immunodeficiency virus (HIV); molecular epidemiology; phylogenetic analysis; migrants; cluster detection; transmission networks and clusters; subtypes; drug resistance testing; risk factors; bioinformaticsMedicinerisk factors030212 general & internal medicinepol Gene ProductsHiv transmissionPhylogenySubtypesPhylogenetic analysisTransmission (medicine)subtypesvirus diseasesHuman immunodeficiency virus (HIV)bioinformaticsMiddle AgedTransmission networks and clustersCluster detectionInfectious DiseasesItalyMolecular epidemiologyCohortFemaleHuman Immunodeficiency VirusCohort studyAdultmedicine.medical_specialtyGenotypeBioinformaticsEmigrants and ImmigrantsMigrantsArticleNO03 medical and health sciencesPhylogenetic analysiVirologyHumansBioinformaticMolecular epidemiologybusiness.industryPublic healthphylogenetic analysisMigrantDrug resistance testingSettore MED/17030104 developmental biologyRisk factorspol Gene Products Human Immunodeficiency Virustransmission networks and clustersTransmission networks and clusters.HIV-1Risk factorbusinessDemography
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Neisseria gonorrhoeae antimicrobial resistance in Spain: a prospective multicentre study.

2021

Abstract Objectives Gonococcal infection is one of the most reported sexually transmitted infections and antimicrobial resistance in Neisseria gonorrhoeae (NG) is challenging for the treatment of this infection. This observational study aimed to describe antimicrobial resistance of NG and epidemiological data from patients with gonococcal infection in eight regions of Spain, for updating the local therapeutic guidelines. Methods MICs of penicillin, cefixime, ceftriaxone, azithromycin, ciprofloxacin, fosfomycin and gentamicin were determined by Etest for all NG isolates recovered from 1 April 2018 to 30 September 2019 from 10 hospitals in Spain. Resistance determinants were identified using …

0301 basic medicineMicrobiology (medical)Malemedicine.medical_specialty030106 microbiologyMicrobial Sensitivity TestsFosfomycinAzithromycinAzithromycinmedicine.disease_cause03 medical and health sciencesGonorrheaSexual and Gender Minorities0302 clinical medicineAntibiotic resistanceCiprofloxacinInternal medicineDrug Resistance BacterialmedicineHumansPharmacology (medical)030212 general & internal medicineProspective StudiesHomosexuality MaleEtestPharmacologybusiness.industryCeftriaxoneNeisseria gonorrhoeaeAnti-Bacterial AgentsPenicillinCiprofloxacinInfectious DiseasesSpainNeisseria gonorrhoeaebusinessCefiximemedicine.drugThe Journal of antimicrobial chemotherapy
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Enhancement of Antigen Presentation by Deletion of Viral Immune Evasion Genes Prevents Lethal Cytomegalovirus Disease in Minor Histocompatibility Ant…

2020

Hematoablative treatment followed by hematopoietic cell transplantation (HCT) for reconstituting the co-ablated immune system is a therapeutic option to cure aggressive forms of hematopoietic malignancies. In cases of family donors or unrelated donors, immunogenetic mismatches in major histocompatibility complex (MHC) and/or minor histocompatibility (minor-H) loci are unavoidable and bear a risk of graft-vs.-host reaction and disease (GvHR/D). Transient immunodeficiency inherent to the HCT protocol favors a productive reactivation of latent cytomegalovirus (CMV) that can result in multiple-organ CMV disease. In addition, there exists evidence from a mouse model of MHC class-I-mismatched GvH…

0301 basic medicineMicrobiology (medical)nodular inflammatory focus (NIF)murine cytomegalovirusbone marrow transplantation030106 microbiologyImmunologyAntigen presentationlcsh:QR1-502Cytomegaloviruschemical and pharmacologic phenomenaCD8 T cellsBiologyCD8-Positive T-LymphocytesMajor histocompatibility complexMicrobiologylcsh:MicrobiologyMinor Histocompatibility Antigens03 medical and health sciencestransplantation toleranceMiceImmune systemCellular and Infection MicrobiologyAntigenMinor histocompatibility antigenAnimalsgraft-vs.-host disease (GvHD)Immune EvasionAntigen PresentationHematopoietic Stem Cell Transplantationhematopoietic reconstitutionBrief Research ReportHistocompatibilityTransplantationMice Inbred C57BL030104 developmental biologyInfectious DiseasesImmunologyCytomegalovirus Infectionsbiology.proteinCD8Frontiers in Cellular and Infection Microbiology
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Impact of novel polymorphisms related to cytotoxicity of cytarabine in the induction treatment of acute myeloid leukemia.

2017

Several novel single nucleotide polymorphisms (SNPs) involved in cytarabine cytotoxicity and related to clinical outcomes have been reported recently in a series of 232 pediatric patients with acute myeloid leukemia (AML). We report the first adult AML cohort in which the influence of these SNPs in cytarabine efficacy and toxicity was analyzed. Six of polymorphisms with clinical significance in the previous study [rs12036333, rs10758713, rs9883101, rs6550826, IRX2: rs2897047, mutated in colorectal cancers (MCC): rs7729269] were analyzed in a cohort of 225 adult patients at initial diagnosis of AML treated with an induction scheme of idarubicin plus cytarabine. The variant alleles of rs12036…

0301 basic medicineOncologyAdultmedicine.medical_specialtyAdolescentPopulationSingle-nucleotide polymorphismKaplan-Meier EstimatePolymorphism Single NucleotideDisease-Free Survival03 medical and health sciencesYoung Adult0302 clinical medicineInternal medicineGeneticsmedicineIdarubicinHumansGeneral Pharmacology Toxicology and PharmaceuticseducationProspective cohort studyMolecular BiologyGenetics (clinical)Agededucation.field_of_studybusiness.industryCytarabineInduction chemotherapyMyeloid leukemiaInduction ChemotherapyMiddle AgedMinor allele frequencyLeukemia Myeloid Acute030104 developmental biology030220 oncology & carcinogenesisCytarabineMolecular Medicinebusinessmedicine.drugPharmacogenetics and genomics
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A two-gene epigenetic signature for the prediction of response to neoadjuvant chemotherapy in triple-negative breast cancer patients

2019

Background Pathological complete response (pCR) after neoadjuvant chemotherapy (NAC) in triple-negative breast cancer (TNBC) varies between 30 and 40% approximately. To provide further insight into the prediction of pCR, we evaluated the role of an epigenetic methylation-based signature. Methods Epigenetic assessment of DNA extracted from biopsy archived samples previous to NAC from TNBC patients was performed. Patients included were categorized according to previous response to NAC in responder (pCR or residual cancer burden, RCB = 0) or non-responder (non-pCR or RCB > 0) patients. A methyloma study was performed in a discovery cohort by the Infinium HumanMethylation450 BeadChip (450K arra…

0301 basic medicineOncologymedicine.medical_treatmentADNlcsh:MedicineTriple Negative Breast NeoplasmsEpigenesis Genetic0302 clinical medicineGenetics (clinical)Triple-negative breast cancermedicine.diagnostic_testHigh-Throughput Nucleotide SequencingNuclear ProteinsMethylationMiddle AgedNeoadjuvant TherapyGene Expression Regulation NeoplasticTreatment OutcomeMyogenic Regulatory FactorsEfectes secundaris dels medicaments030220 oncology & carcinogenesisCohortFemaleTaxoidsMetilacióMicrotubule-Associated ProteinsAdultmedicine.medical_specialtylcsh:QH426-470MethylationMinor Histocompatibility Antigens03 medical and health sciencesBreast cancerTriple-negative breast cancerInternal medicineCell Line TumorBiopsyGeneticsmedicineHumansEpigeneticsMolecular BiologyEpigenetic signatureAgedChemotherapybusiness.industryGene Expression ProfilingResearchlcsh:RSequence Analysis DNADNADNA Methylationmedicine.diseaseHuman geneticsRepressor Proteinslcsh:Genetics030104 developmental biologyDrug side effectsbusinessPredictionDevelopmental Biology
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Distribution of Interstitial Telomeric Sequences in Primates and the Pygmy Tree Shrew (Scandentia).

2017

It has been hypothesized that interstitial telomeric sequences (ITSs), i.e., repeated telomeric DNA sequences found at intrachromosomal sites in many vertebrates, could be correlated to chromosomal rearrangements and plasticity. To test this hypothesis, we hybridized a telomeric PNA probe through FISH on representative species of 2 primate infraorders, Strepsirrhini (<i>Lemur catta, Otolemur garnettii, Nycticebus coucang</i>) and Catarrhini (<i>Erythrocebus patas, Cercopithecus petaurista, Chlorocebus aethiops, Colobus guereza</i>), as well as on 1 species of the order Scandentia, <i>Tupaia minor</i>, used as an outgroup for primates in phylogenetic recon…

0301 basic medicinePeptide Nucleic AcidsPrimatesHeterochromatinTupaiaCatarrhiniSequential C-bandChromosomal rearrangement03 medical and health sciencesGeneticTelomeric repeatHeterochromatinGeneticsAnimalsTupaia minorMolecular BiologyGenetics (clinical)PhylogenySyntenyGeneticsChromosome rearrangementbiologyPhylogenetic treeTupaiidaeTelomerebiology.organism_classificationScandentia<italic>Tupaia</italic>030104 developmental biologyCytogenetic and genome research
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Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

2016

Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…

0301 basic medicineProbandMalemedicine.medical_specialtyHeterozygoteAdolescentHearing lossUsher syndromeHearing Loss SensorineuralOtoacoustic Emissions SpontaneousAudiologyCompound heterozygosity03 medical and health sciencesSpeech and Hearing0302 clinical medicineotorhinolaryngologic diseasesmedicineEvoked Potentials Auditory Brain StemHumansGenetic Predisposition to DiseaseChildAllelesmedicine.diagnostic_testbusiness.industryAudiogramSequence Analysis DNAmedicine.diseaseMinor allele frequency030104 developmental biologyOtorhinolaryngologyMutationAudiometry Pure-ToneSensorineural hearing lossFemaleAudiometrymedicine.symptombusinessCarrier Proteins030217 neurology & neurosurgeryEar and hearing
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