Search results for "rase"

showing 10 items of 4343 documents

The Amount of Melanin Influences p16 Loss in Spitzoid Melanocytic Lesions: Correlation With CDKN2A Status by FISH and MLPA.

2019

AIMS The risk assessment of spitzoid lesions is one of the most difficult challenges in dermatopathology practice. In this regard, the loss of p16 expression and the homozygous deletion of CDKN2A, have been pointed in the literature as reliable indicators of high risk. However, these findings are poorly reproducible, and the molecular bases underlying the loss of p16 expression remain unclear. We aimed to identify the underlying events causing loss of CDKN2A/p16 in spitzoid tumors. MATERIALS AND METHODS We evaluated the immunohistochemical expression of p16, and the presence of CDKN2A genetic alterations detected through fluorescence in situ hybridization (FISH) and multiplex ligation-depen…

0301 basic medicineAdultMalePathologymedicine.medical_specialtyHistologySkin NeoplasmsPathology and Forensic MedicineMelanin03 medical and health sciencesYoung Adult0302 clinical medicineCDKN2ANevus Epithelioid and Spindle CellmedicineBiomarkers TumorNevusHumansMultiplex ligation-dependent probe amplificationneoplasmsMelanomaCyclin-Dependent Kinase Inhibitor p16In Situ Hybridization FluorescenceMelaninsmedicine.diagnostic_testbusiness.industryMelanomamedicine.diseaseImmunohistochemistryGene Expression Regulation NeoplasticMedical Laboratory Technology030104 developmental biology030220 oncology & carcinogenesisMutationImmunohistochemistryMelanocytesFemaleDermatopathologybusinessMultiplex Polymerase Chain ReactionFluorescence in situ hybridizationApplied immunohistochemistrymolecular morphology : AIMM
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Centenarians Overexpress Pluripotency-Related Genes.

2018

Abstract Human mesenchymal cells can become pluripotent by the addition of Yamanaka factors OCT3/4, SOX2, c-MYC, KLF4. We have recently reported that centenarians overexpress BCL-xL, which has been shown to improve pluripotency; thus, we aimed to determine the expression of pluripotency-related genes in centenarians. We recruited 22 young, 32 octogenarian, and 47 centenarian individuals and determined the mRNA expression of Yamanaka factors and other stemness-related cell surface marker genes (VIM, BMP4, NCAM, BMPR2) in peripheral blood mononuclear cells by reverse transcription polymerase chain reaction. We found that centenarians overexpress OCT3/4, SOX2, c-MYC, VIM, BMP4, NCAM, and BMPR2…

0301 basic medicineAdultMalePluripotent Stem CellsAgingCellPeripheral blood mononuclear cellCohort Studies03 medical and health sciencesKruppel-Like Factor 40302 clinical medicineSOX2MedicineHumansGeneCells CulturedAged 80 and overbusiness.industryMesenchymal stem cellAge FactorsMembrane ProteinsReverse transcription polymerase chain reaction030104 developmental biologymedicine.anatomical_structureGene Expression RegulationKLF4Cancer researchLeukocytes MononuclearFemaleGeriatrics and GerontologyCentenarianbusiness030217 neurology & neurosurgeryThe journals of gerontology. Series A, Biological sciences and medical sciences
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Detection of RET rearrangements in papillary thyroid carcinoma using RT-PCR and FISH techniques - A molecular and clinical analysis.

2019

Abstract Introduction Oncogenic BRAF and RAS mutations as well as multiple known (and yet unknown) RET fusion oncogenes comprise the majority of causative molecular alterations in papillary thyroid carcinoma (PTC). Apparently “mutation-negative” PTCs encompass a heterogenous group impeding analysis of prognostic significance of underlying genetics. Material and methods BRAF wild type PTC tissue of 56 patients was analyzed using two established methods: hybrid-specific RT-PCR for the predominant rearrangement RET/PTC1 and fluorescent in situ hybridization (FISH). Clinical features of the cases with and without RET rearrangement were compared (patient age, gender, tumor size, focality, lymph …

0301 basic medicineAdultMaleProto-Oncogene Proteins B-rafmedicine.medical_specialtyendocrine system diseasesIn situ hybridizationThyroid carcinomaIodine Radioisotopes03 medical and health sciences0302 clinical medicinemedicineHumansAvidityOncogene FusionThyroid NeoplasmsLymph nodeIn Situ Hybridization FluorescenceAgedRET/PTC RearrangementGene RearrangementClinical pathologybusiness.industryReverse Transcriptase Polymerase Chain ReactionProto-Oncogene Proteins c-retGeneral MedicineMiddle AgedTumor BurdenReverse transcription polymerase chain reaction030104 developmental biologymedicine.anatomical_structureReal-time polymerase chain reactionOncologyThyroid Cancer Papillary030220 oncology & carcinogenesisCancer researchSurgeryFemaleLymph NodesbusinessEuropean journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
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Relevance of secretor status genotype and microbiota composition in susceptibility to rotavirus and norovirus infections in humans

2017

Host genetic factors, such as histo-blood group antigens (HBGAs), are associated with susceptibility to norovirus (NoV) and rotavirus (RV) infections. Recent advances point to the gut microbiome as a key player necessary for a viral pathogen to cause infection. In vitro NoV attachment to host cells and resulting infections have been linked to interactions with certain bacterial types in the gut microbiota. We investigated the relationship between host genotype, gut microbiota, and viral infections. Saliva and fecal samples from 35 adult volunteers were analysed for secretor status genotype, the gut microbiota composition by 16S rRNA gene sequencing, and salivary IgA titers to NoV and RV. Hi…

0301 basic medicineAdultMaleSalivaGenotype030106 microbiologyResistanceMicrobiologiaGut floraHuman gut microbiomemedicine.disease_causeArticleRotavirus InfectionsMicrobiologyAssociation03 medical and health sciencesFecesfluids and secretionsBlood group antigensFut2 geneRotavirusGenotypemedicineHumansGenetic Predisposition to DiseaseDiseaseMicrobiomePolymorphismSalivaPathogenEcosystemCaliciviridae InfectionsMultidisciplinaryEnteric bacteriabiologyRuminococcusMiddle Agedbiology.organism_classificationFucosyltransferasesVirusGastrointestinal MicrobiomeGastroenteritis030104 developmental biologyImmunologyNorovirusFemale
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Urinary levels of sirtuin-1 associated with disease activity in lupus nephritis.

2017

Identifying new markers of disease flares in lupus nephritis (LN) that facilitate patient stratification and prognosis is important. Therefore, the aim of the present study was to analyze whether urinary SIRT1 expression was altered in LN and whether SIRT1 values in urine could be valuable biomarker of disease activity. In a cohort study, urinary pellets from 40 patients diagnosed with systemic lupus erythematosus (SLE) were analyzed. Clinical measures of lupus activity were assessed. The expression of SIRT1 was quantified by quantitative PCR (qRT-PCR) and immunoblot, then compared between patients with active lupus nephritis, in remission and healthy controls. Association with lupus activi…

0301 basic medicineAdultMalemedicine.medical_specialtyUrinary systemLupus nephritisGene ExpressionDiseaseUrineKidneyGastroenterologySeverity of Illness IndexPathogenesisCohort Studies03 medical and health sciencesSirtuin 1Internal medicinemedicineHumansLupus Erythematosus Systemicskin and connective tissue diseasesAgedSystemic lupus erythematosusbusiness.industryGeneral MedicineMiddle Agedmedicine.diseasePrognosisLupus Nephritis030104 developmental biologyReal-time polymerase chain reactionBiomarker (medicine)FemalebusinessBiomarkersClinical science (London, England : 1979)
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Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic res…

2015

Abstract Objective This was a retrospective data analysis to evaluate the treatment response to enzyme replacement therapy (ERT) with Velaglucerase alfa using whole-body magnetic resonance imaging (MRI). Materials and methods A baseline and follow-up MRI were performed on 18 Gaucher Type 1 patients at an interval of 11.6 months. The MRI score systems determined the Bone-Marrow-Burden (BMB) score, the Dusseldorf-Gaucher score (DGS), and the Vertebra-Disc-Ratio (VDR). The Severity Score Index Type 1 (GD-DS3) was also assessed. Results The baseline MRI medians were: BMB, 7.00; DGS, 3.00; and VDR: 1.70; while, the follow-up MRI medians were: BMB, 7.00; DGS, 3.00; and VDR: 1.73. The baseline GD-…

0301 basic medicineAdultMalemedicine.medical_specialtyWhole body imagingSeverity of Illness Index03 medical and health sciences0302 clinical medicineBone MarrowStatistical significanceSeverity of illnessmedicineHumansEnzyme Replacement TherapyWhole Body ImagingStage (cooking)Molecular BiologyAgedRetrospective StudiesGaucher Diseasemedicine.diagnostic_testbusiness.industryVelaglucerase alfaPlatelet CountMagnetic resonance imagingRetrospective cohort studyCell BiologyHematologyEnzyme replacement therapyMiddle AgedMagnetic Resonance ImagingRecombinant ProteinsSurgery030104 developmental biologyTreatment OutcomeMolecular MedicineGlucosylceramidaseFemaleRadiologybusiness030215 immunologymedicine.drugFollow-Up StudiesBlood cells, moleculesdiseases
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Annulate Lamellae in a Desmoplastic Small Round Cell Tumor

2016

0301 basic medicineAdultPathologymedicine.medical_specialtyOncogene ProteinsDesmoplastic small-round-cell tumorAnnulate lamellaOncogene Proteins FusionBiologyDesmoplastic Small Round Cell TumorPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineNeoplasm RecurrenceMicroscopy Electron TransmissionmedicineBiomarkers TumorHumansRetroperitoneal NeoplasmsReverse Transcriptase Polymerase Chain Reactionmedicine.diseaseImmunohistochemistryRetroperitoneal Neoplasm030104 developmental biology030220 oncology & carcinogenesisImmunohistochemistrySurgeryFemaleAnatomyNeoplasm Recurrence Local
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“Pro-youthful” factors in the “labyrinth” of cardiac rejuvenation

2016

IF 3.350; International audience; The mechanisms of aging and senescence include various endogenous and exogenous factors. Among cardiovascular diseases, heart failure is a typical age-related disease. New strategies to restore cardiomyocyte cells have been reported: endogenous substances that can regenerate the heart's cardiomyocytes have been described: follistatin like 1 (FSTL1), growth-differentiation factor 11 (GDF11) and insulin-like growth factor 1 (IGF-I). Manipulation of the different anti and pro-pathways is essential to discover new approaches to regenerative therapies. (C) 2016 Elsevier Inc. All rights reserved.

0301 basic medicineAgingStem-Cellsmedicine.medical_treatmentEndogenyCardiovascular-DiseaseBioinformaticsBiochemistryEndocrinologyFollistatin-Like 1Myocytes CardiacInsulin-Like Growth Factor Ibiology[SDV.MHEP.GEG]Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontologyGrowth differentiation factorGrowth-Factor-I3. Good healthIGF-IGrowth Differentiation FactorsBone Morphogenetic ProteinsCardiacMouse HeartSenescencemedicine.medical_specialtyFollistatin-Related ProteinsGene-Expression[ SDV.MHEP.GEG ] Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontologyFSTL1Mammalian Heart03 medical and health sciencesMyocardial-InfarctionInternal medicineGeneticsmedicineHumansRegenerationRejuvenationMolecular BiologyHeart FailureYoung BloodTelomerase ExpressionRegeneration (biology)Growth factorCell Biologymedicine.disease030104 developmental biologyEndocrinologyHeart failureGDF11GDF11biology.proteinFollistatin
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Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening

2018

Loss of function of dyskerin (DKC1), NOP10 and TIN2 are responsible for different inheritance patterns of Dyskeratosis congenita (DC; ORPHA1775). They are key components of telomerase (DKC1 and NOP10) and shelterin (TIN2), and play an important role in telomere homeostasis. They participate in several fundamental cellular processes by contributing to Dyskeratosis congenita through mechanisms that are not fully understood. Presence of oxidative stress was postulated to result from telomerase ablation. However, the resulting disturbed redox status can promote telomere attrition by generating a vicious circle, which promotes cellular senescence. This fact prompted us to study if acute loss of …

0301 basic medicineAgingTelomeraseTelomere-Binding ProteinsClinical BiochemistryCell Cycle ProteinsBiologymedicine.disease_causeBiochemistryDyskeratosis CongenitaDyskerin03 medical and health sciencesTelomere HomeostasisRibonucleoproteins Small NucleolarmedicineHumanslcsh:QH301-705.5TelomeraseCellular SenescenceTelomere ShorteningRibonucleoproteinlcsh:R5-920TelomeropathiesOrganic ChemistryNuclear ProteinsShelterinmedicine.diseaseMolecular biologyTelomereCell biologyOxidative Stress030104 developmental biologylcsh:Biology (General)DNA damageRNA InterferenceAntioxidantlcsh:Medicine (General)Oxidative stressDyskeratosis congenitaResearch PaperHeLa CellsRedox Biology
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Abacavir Increases Purinergic P2X7 Receptor Activation by ATP: Does a Pro-inflammatory Synergism Underlie Its Cardiovascular Toxicity?

2021

16 p.-9 fig.-1 tab.

0301 basic medicineAgonistAllosteric modulatormedicine.drug_classAllosteric modulatoradenosine triphosphateAllosteric regulationPharmacologyleukocyte-endothelium interactionsProinflammatory cytokine03 medical and health scienceschemistry.chemical_compound0302 clinical medicineimmune system diseasesAbacavirmedicinePharmacology (medical)Original ResearchPharmacologyApyraseLeukocyte-endothelium interactionsabacavirlcsh:RM1-950Purinergic receptorallosteric modulatorvirus diseasesAbacavircardiovascular diseasesCardiovascular diseaseslcsh:Therapeutics. Pharmacology030104 developmental biologychemistryP2X7 receptorAdenosine triphosphate030217 neurology & neurosurgeryAdenosine triphosphatemedicine.drugFrontiers in Pharmacology
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