Search results for " Variant"

showing 10 items of 231 documents

Valutazione dei genotipi G6PD nella popolazione Siciliana e identificazione di una nuova variante: “G6PD*Palermo R257M”.

2008

La deficienza enzimatica di G6PDH è uno dei più comuni disordini nella popolazione siciliana in quanto più di 400 milioni di persone ne sono affette. Al fine di valutare la reale prevalenza dei casi nel nostro territorio presentiamo i dati di uno studio di genotipizzazione del locus G6PD (Xq28). 349 soggetti Siciliani di sesso maschile affetti da deficienza di G6PDH sono stati tipizzati secondo varie metodiche. Gli approcci di laboratorio sono: RFLPs (NlaIII, BclI, PstI e BspHI), PCR-Reverse Dot Blot (RDB) ed il sequenziamento diretto del gene. Le prime metodiche sono utili per definire le mutazioni già descritte e comunque le più comuni; il sequenziamento diretto è determinante per la valu…

Settore MED/38 - Pediatria Generale E Specialisticagenotipi G6PD mutazioni più frequentinuova variante.
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XIII Starptautiskais baltistu kongress „Baltu valodas laikā un telpā”: Referātu tēzes

2021

2021. gada 13.–15. oktobrī Latvijas Universitāte tiešsaistē organizēja XIII Starptautisko baltistu kongresu “Baltu valodas laikā un telpā”, kurā piedalījās vairāk nekā 170 dalībnieku no 11 valstīm. Kongresa aizsākumi meklējami 1965. gadā, kad Viļņas universitātes Lietuviešu valodas katedras un Lietuviešu valodas institūta darbinieki sarīkoja baltu valodu vēsturei veltītu konferenci. Starptautiskais baltistu kongress ik pēc pieciem gadiem pārmaiņus notiek Viļņā vai Rīgā. Kongresa tēžu krājumā apvienots plašs tēmu loks, sākot no baltu valodu likteņiem laika nogriežņos (diahronijā), līdz skatījumam uz valodu pašreizējā stāvoklī (sinhronijā): valodas vēsture, gramatika, onomastika, sociolingvis…

Sociālo procesu ietekme valodā un tās variantosValodas filozofijaOnomastikaKontaktlingvistikaValodas aktualitātesValodas tehnoloģijasValodas apguveValodas kultūraValodas vēstureSociolingvistikaGramatikaSkaņa un vārds valodāIndoeiropeistika:HUMANITIES and RELIGION::Languages and linguistics::Other languages::Baltic languages [Research Subject Categories]Komparatīvistika
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Genetic contribution in sporadic thoracic aortic aneurysm? Emerging evidence of genetic variants related to TLR-4-mediated signaling pathway as risk …

2015

Abstract Sporadic thoracic aortic aneurysms (TAA) and dissections are one of the major causes of morbidity and mortality worldwide, especially in those older than 65 years. The presentation of TAA is varied and often silent. Thus, sporadic TAA detection is often fortuitous, with identification occurring during a routine physical examination or during an unrelated medical evaluation. Once suspected, confirmation by imaging clinical approaches is needed to allow the choose of the unique treatments for TAA, namely the surgery procedures, including elective surgery or endovascular repair before the onset of catastrophic and fatal complications, such as dissection or rupture. At present, there a…

Sporadic thoracic aortic aneurysms (TAA) and dissections genetic variants biomarkers targets for new personalized therapeutic treatments.Pathologymedicine.medical_specialtyPhysiologyDiseaseBioinformaticscomplex mixturesThoracic aortic aneurysmRisk Factorsparasitic diseasesGenetic variationMedicineHumansGenetic Predisposition to DiseaseElective surgeryPharmacologyAortic Aneurysm Thoracicbusiness.industryGenetic variantsGenetic VariationMedical evaluationmedicine.diseasedigestive system diseasesToll-Like Receptor 4DissectionMolecular MedicineSignal transductionbusinessSignal TransductionVascular pharmacology
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Abitare nel reale. Dalla crisi della periferia alla tessitura di nuove relazioni contestuali

2019

I progetti redatti per “Palermo Sud-Est” sono il risultato di un Laboratorio di Laurea strutturatosi attraverso incontri, seminari, comunicazioni specialistiche, esposizioni critiche, che – in una strategia condivisa – ha visto ogni studente elaborare il proprio lavoro nel confronto con gli altri attori del Laboratorio stesso. La ricerca sui “progetti urbani” è stata impostata di modo che ogni laureando fosse messo a conoscenza dei progetti svolti nello stesso ambito territoriale dai colleghi che l’avevano preceduto, così da poter operare in continuità e contribuire a formulare un ragionamento unitario, nel quale ogni progetto costituisse continuazione, verifica o anche variante dei precede…

The projects prepared for "Palermo South-East" are the result of a Graduate Laboratory structured through meetings seminars specialist communications critical exhibitions which - in a shared strategy - saw each student elaborate their work in comparison with others actors of the same Laboratory. The research on "urban projects" was set so that each graduating student was made aware of the projects carried out in the same geographical area by the colleagues who had preceded it so as to be able to operate in continuity and contribute to formulating a unitary reasoning in which each project constituted continuation verification or even variant of the previous ones. These coordinated works have pursued two fundamental objectives: the strengthening of infrastructures and the establishment of specialized public buildings with superior functions aimed at requalifying and regenerating various critical situations with particular attention to the relationship between context and life scenarios. Thus each designer while dealing with a main functional program simultaneously deals with various issues such as the rationalization of the road system the redevelopment of existing buildings the design and refunctionalization of urban services (for example the transformed Central Station in the hotel or the project of a great Mosque)several degree theses have addressed as the main theme or as a question in the background the design of a new bed for the Oreto river and the relative establishment of a park facing it. In this desire to "patch up the wounds" in the different areas of "Palermo South-East" in close relationship with the vicissitudes of the place there is a continuous reference to architectures of all time and some questions involving the functional program are suggested - that identifies the character (or perhaps "type") of what is to be inserted in a given context - and the qualities of living reality as a pivotal material in the design process.Settore ICAR/14 - Composizione Architettonica E Urbana
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Recurrences of multidrug-resistant tuberculosis: Strains involved, within-host diversity, and fine-tuned allocation of reinfections

2020

34 páginas, 13 figuras

TuberculosisArgentinaBiologyMicrobiologyPersistence (computer science)Tuberculosis Multidrug-ResistantMDRmedicineAnimalsSNPTuberculosisRecurrencesClonal variantsDiversityGeneral VeterinaryGeneral Immunology and MicrobiologyMolecular epidemiologyStrain (chemistry)Host (biology)Mycobacterium tuberculosisGeneral Medicinemedicine.diseaseMultiple drug resistanceMolecular epidemiologyReinfectionWGS
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Examination of Escherichia coli from poultry for selected adhesin genes important in disease caused by mammalian pathogenic E. coli

2001

A collection of 1601 extraintestinal and intestinal Escherichia coli isolated from chickens, turkeys and ducks, in Belgium, France and Spain, was hybridised with gene probes specific for fimbrial and afimbrial adhesins (F17, F18, SSfa/F1C, Bfp, Afa, Cs31A, IntiminEae, Aida-1) of intestinal, urinary and invasive E. coli of mammals and with a probe specific for the P (Pap/Prs) fimbrial adhesin of urinary and invasive E. coli of mammals and birds. Three hundred and eighty-three strains (23.9%) were P-positive, 76 strains (4.8%) were Afa-positive, 75 strains (4.7%) were F17-positive, 67 strains (4.2%) were S-positive, 23 (1.4%) were Intimin-positive, and all were F18-, Cs31A-, Aida1- and Bfp-ne…

TurkeysGenotype[SDV]Life Sciences [q-bio]Protein subunitSONDE NUCLEIQUEmedicine.disease_causePolymerase Chain ReactionMicrobiologyMicrobiology03 medical and health sciencesBelgiumTECHNIQUE PCREscherichia colimedicineAnimalsAdhesins BacterialEscherichia coliGeneComputingMilieux_MISCELLANEOUSEscherichia coli InfectionsPoultry Diseases030304 developmental biologyIntimin0303 health sciencesGeneral Veterinarybiology030306 microbiologyGenetic variantsGeneral Medicinebiology.organism_classificationVirologyEnterobacteriaceae[SDV] Life Sciences [q-bio]Bacterial adhesinDucksSpainFimbriae BacterialFranceDNA ProbesChickensBacteriaVeterinary Microbiology
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Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations

2014

European Community Recent years have seen considerable progress in epidemiological and molecular genetic research into environmental and genetic factors in schizophrenia, but methodological uncertainties remain with regard to validating environmental exposures, and the population risk conferred by individual molecular genetic variants is small. There are now also a limited number of studies that have investigated molecular genetic candidate gene-environment interactions (G x E), however, so far, thorough replication of findings is rare and G x E research still faces several conceptual and methodological challenges. in this article, we aim to review these recent developments and illustrate h…

URBANICITYSchizophrenia (object-oriented programming)CHILDHOODGenome-wide association studyVARIANTSSocial Environmentpsychosi03 medical and health sciences0302 clinical medicinePSYCHOSISepidemiology; gene-environment interaction; genetics; psychosis; schizophreniaSDG 3 - Good Health and Well-beingRISK-FACTORSettore M-PSI/08 - Psicologia ClinicaGenetic variationHumansGenetic Predisposition to DiseasegeneticspsychosisGENOME-WIDE ASSOCIATIONGeneSettore MED/25 - PsichiatriaMETAANALYSISScale (chemistry)schizophrenia; gene-environment interaction; Psychosis; epidemiology; geneticsGenetic variantsEnvironment and Schizophrenia InvitedCANNABIS USE3. Good health030227 psychiatrygene-environment interactionschizophreniaPsychiatry and Mental healthEvolutionary biology/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingIdentification (biology)Schizophrenic PsychologyepidemiologyPopulation RiskgeneticPsychologyFOLLOW-UP030217 neurology & neurosurgeryFUTURE-DIRECTIONSClinical psychology
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INTEGRATIVE APPROACH BETWEEN GENE VARIANTS, NEUROENDOCRINE EFFECTORS AND ANXIETY RESPONSE: A PILOT STUDY

2016

The aim of this study is to investigate the neurobiology of stress/emotionality, creating a multidisciplinary assessment model, which can help to provide psychological and physiological responses depending on the genetic background related to sport performances, social closeness and performance anxiety management in team sports. We enrolled 20 female volleyball players aged 13 ± 1 years old played in two different teams during a regional championship final. Saliva collection was carried out before and after the match. In order to evaluate the neuroendocrine effectors involved in stress and performance, we analyzed cortisol and progesterone levels through Elisa standard kit as well as HSP70 …

Volleyball players Dat1 and BDNF gene variants oxidative stress cortisol
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iGEMS : an integrated model for identification of alternative exon usage events

2016

DNA microarrays and RNAseq are complementary methods for studying RNA molecules. Current computational methods to determine alternative exon usage (AEU) using such data require impractical visual inspection and still yield high false-positive rates. Integrated Gene and Exon Model of Splicing (iGEMS) adapts a gene-level residuals model with a gene size adjusted false discovery rate and exon-level analysis to circumvent these limitations. iGEMS was applied to two new DNA microarray datasets, including the high coverage Human Transcriptome Arrays 2.0 and performance was validated using RT-qPCR. First, AEU was studied in adipocytes treated with (n = 9) or without (n = 8) the anti-diabetes drug,…

WHITE ADIPOCYTESPHYSICAL-ACTIVITYDIFFERENTIATIONARRAY ANALYSISSPLICE VARIANTSRNA-SEQ3111 BiomedicineHUMAN TISSUESTRANSCRIPTOMEalternative exon usageMICROARRAYS3142 Public health care science environmental and occupational healthGENE-EXPRESSION
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