0000000000019482

AUTHOR

Salvatore Travali

showing 11 related works from this author

RT-PCR and in situ hybridization analysis of apolipoprotein H expression in rat normal tissues

2006

In this study, by using different techniques (i.e. Northern blot hybridization, RT-PCR and Southern blot hybridization) on various normal rat tissues, we were able to identify liver, kidney, heart, small intestine, brain, spleen, stomach and prostate as tissues in which the ApoH gene is transcribed. Moreover, for some of these tissues, by in situ hybridization, we found a specific localization of apoH transcripts. For instance epithelial cells of the bile ducts in liver and of the proximal tubules in kidney are the major sites of apoH synthesis. Our data suggest that some of the different physiological roles proposed for apoH could correlate with its direct expression, while others could co…

In situ hybridizationBiologyß-2-glycoprotein I apoH antiphospholipid syndrome Fanconi syndromeKidneyGeneticsmedicineAnimalsHumansBeta 2-Glycoprotein ITissue DistributionRNA MessengerNorthern blotRats WistarCells CulturedIn Situ HybridizationGlycoproteinsSouthern blotReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingMyocardiumKidney metabolismGeneral MedicineMolecular biologySmall intestineRatsJejunumReal-time polymerase chain reactionmedicine.anatomical_structureLiverbeta 2-Glycoprotein IApolipoprotein H
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Bovine seminal ribonuclease is cytotoxic for both malignant and normal telomerase-positive cells

2005

Bovine seminal-ribonuclease (BS-RNase) is a member of the 'ribonucleases with special biological actions' family since it possesses specific anti-tumour, anti-spermatogenic and embryotoxic activities and exerts an immunosuppressive effect on T lymphocytes. In previous studies it was demonstrated that BS-RNase induced apoptosis in proliferating, malignant and normal cells and that telomerase activity loss also caused apoptotic death in neoplastic cells. Since an obvious relationship between cell proliferation and telomerase activity exists, the aim of this work was to study if the pro-apoptotic cytotoxic action exerted by BS-RNase on proliferating malignant cells (HT29) and proliferating nor…

Cancer ResearchTelomeraseTime FactorsT-LymphocytesCellular differentiationCytotoxicityBlotting WesternDown-RegulationTetrazolium SaltsAntineoplastic AgentsApoptosisEnzyme-Linked Immunosorbent AssayBiologyHT29 CellsCell Line TumorEndoribonucleasesAnimalsHumansCytotoxic T cellTelomerase reverse transcriptaseLymphocytesRNA MessengerTelomeraseBovine seminal-ribonuclease; Cytotoxicity; HTR; Nucleolar localization; TelomeraseCell ProliferationReverse Transcriptase Polymerase Chain ReactionCell growthCell DifferentiationCell cycleNucleolar localizationMolecular biologyThiazolesBovine seminal-ribonucleaseMicroscopy FluorescenceOncologyCell cultureLeukocytes MononuclearMicroscopy Electron ScanningRNACattleHTRCell NucleolusImmunosuppressive Agents
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Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo

1999

The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb™-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sou…

ProbandGeneticseducation.field_of_studyPoint mutationPopulationFamilial hypercholesterolemiaGene mutationBiologymedicine.diseaseRestriction siteMutation (genetic algorithm)LDL receptorGeneticsmedicineeducationGenetics (clinical)Human Mutation
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Blocking signaling through the gp130 receptor chain by interleukin-6 and oncostatin M inhibits PC-3 cell growth and sensitizes the tumor cells to eto…

1999

BACKGROUND The mechanisms of drug resistance associated with advanced, hormone-independent prostate carcinoma are poorly understood. The human prostate carcinoma PC-3 cell line, derived from a metastatic tumor and lacking androgen receptors, represents a useful model to investigate drug resistance. METHODS The effects of oncostatin M (OM), antiinterleukin-6 (IL-6) treatment, or interference with the gp130-mediated signaling on etoposide- or cisplatin-mediated cytotoxicity were investigated. RESULTS Both endogenous and exogenous IL-6 and exogenous OM up-regulated cell growth and enhanced resistance of PC-3 tumor cells to both etoposide and cisplatin. The influence of IL-6 is controlled by tr…

MaleCancer Researchmedicine.drug_classAntineoplastic AgentsOncostatin MBiologyCell surface receptorAntigens CDCyclohexenesmedicineCytokine Receptor gp130Tumor Cells CulturedHumansReceptorEtoposideEtoposideMembrane GlycoproteinsCell growthInterleukin-6TerpenesOncostatin MProstatic NeoplasmsGlycoprotein 130Receptor antagonistAntineoplastic Agents PhytogenicGenisteinOncologyDrug Resistance NeoplasmCancer researchbiology.proteinMonoterpenesSignal transductionCisplatinPeptidesmedicine.drugSignal Transduction
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A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome

2005

Introduction: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3β-hydroxysterol Δ7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20 000–60 000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis. Method: We analyzed by direct sequencing the 7-dehydrocholesterol…

Malecongenital hereditary and neonatal diseases and abnormalitiesHeterozygoteOxidoreductases Acting on CH-CH Group DonorsMutation MissenseBiologyReductaseCompound heterozygosityExonmedicineMissense mutationHumansGeneSicilyGeneticsnutritional and metabolic diseasesInfantGeneral Medicinemedicine.diseaseHuman geneticsPedigreeSmith-Lemli-Opitz SyndromeOxidoreductases Acting on CH-CH Group DonorSmith–Lemli–Opitz syndromeMutation (genetic algorithm)Human
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Beta-2-glycoprotein I is growth regulated and plays a role as survival factor for hepatocytes

2004

Beta-2-glycoprotein I (beta(2)GPI) is mainly produced by the liver and is found in plasma partially associated to lipoproteins. Although various properties have been attributed to this protein, its physiological role remains still unclear. We investigated its expression in cultured liver cells and in regenerating liver. Expression studies in HepG2 cells demonstrate that beta(2)GPI mRNA is regulated in a cell cycle-dependent manner, with very low expression in low cycling conditions and increasing levels in proliferating cells. p21 WAF-dependent growth arrest, induced by butyrate treatment, down-regulate beta(2)GPI mRNA levels. Immunolocalization in normal rat liver shows a non-homogeneous p…

medicine.medical_specialtyRegenerating liverSurvivalCell SurvivalCell cycle expressionCellCell Culture TechniquesButyrateBiologyBiochemistrychemistry.chemical_compoundAlbuminsInternal medicineGene expressionmedicineAnimalsHumansBeta 2-Glycoprotein IRats WistarGlycoproteinsAlbuminSodium butyrateCell BiologyLiver RegenerationRatsBeta-2-glycoprotein ICell biologyButyratesEndocrinologymedicine.anatomical_structureGene Expression RegulationLiverchemistrybeta 2-Glycoprotein IHepatocytesApolipoprotein HHepatic stellate cellGDF15The International Journal of Biochemistry & Cell Biology
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Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent

2006

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…

AdultProbandhypercholesterolemia LDL receptor gene mutation analysis direct sequencing splicing living-donor transplantationSettore MED/09 - Medicina InternaDNA Mutational AnalysisDirect sequencingHypercholesterolemiaFamilial hypercholesterolemiaBiologyGene mutationSplicingmedicine.disease_causeFrameshift mutationHyperlipoproteinemia Type IIExonGeneticsmedicineHumansMissense mutationRNA MessengerChildSicilyCells CulturedLiving-donor transplantationLDL receptor geneGeneticsMutationIntronExonsGeneral MedicineMiddle Agedmedicine.diseaseLipidsMolecular biologyPedigreeDirect sequencing; Hypercholesterolemia; LDL receptor gene; Living-donor transplantation; Mutation analysis; SplicingMutation analysisReceptors LDLParaguayChild PreschoolMutationBiological Assay
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Differential apolipoprotein(a) isoform expression in heterozygosity is an independent contributor to lipoprotein(a) levels variability

2003

Abstract Background and methods : Lipoprotein(a) [Lp(a)] levels represent an independent risk factor for cardio- and cerebrovascular diseases. Since lipoprotein(a) levels show a wide variability even in subjects with similar apolipoprotein(a) isoforms, we investigated the contribution of apolipoprotein(a) heterozygosity to lipoprotein(a) variance. Lipoprotein(a) levels, apolipoprotein(a) isoforms identification and expression, and the correlation with other lipo-apolipoprotein parameters have been investigated in 628 subjects >18 years of age. Results : In our study, 246 subjects were found heterozygous for apolipoprotein(a) isoforms. Lipoprotein(a) levels were higher in females. About 40% …

Gene isoformAdultMalemedicine.medical_specialtyHeterozygoteApolipoprotein BClinical BiochemistryWestern blotApoprotein(a)BiochemistryProtein expressionLoss of heterozygosityWestern blotInternal medicinemedicineHumansProtein IsoformsAgedApolipoprotein(a) phenotypingmedicine.diagnostic_testbiologyMedical screeningBiochemistry (medical)General MedicineLipoprotein(a)Middle AgedEndocrinologyApolipoproteinsbiology.proteinProtein expressionlipids (amino acids peptides and proteins)FemaleLipoproteinLipoprotein(a)
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Gene expression in mouse spermatogenesis during ontogenesis

2006

In this study, we evaluated the expression of genes probably involved in spermatogenesis in the mouse. We examined cytosolic chaperonin theta subunit (CCTtheta), Ngg1 interacting factor 3 like 1 binding protein 1 (NIF3L1 BP1) and apolipoprotein H (ApoH) expression during mouse onto-geny using RT-PCR. Testicular tissue was obtained from mice 3, 6, 8, 10, 12, 14, 18, 20 and 40 (adult) days after birth. For each mouse, one testis was used for histological examination, whereas RNA was extracted from the controlateral testis for expression analysis. RT-PCR analysis showed that CCTtheta gene expression was low until day 10, but increased drastically afterwards. At this age, spermatocytes started …

MaleChaperoninsSpermiogenesisMouse testis ontogenesisBiologyMiceGene expressionTestisGeneticsmedicineAnimalsRNA MessengerSpermatogenesisGeneGene expression; Mouse testis ontogenesis; SpermatogenesisGlycoproteinsReverse Transcriptase Polymerase Chain ReactionGene Expression Regulation DevelopmentalProteinsGeneral MedicineCell cycleMolecular biologyCell biologyChromatinmedicine.anatomical_structurebeta 2-Glycoprotein IGene expressionSpermatogenesisApolipoprotein HCo-Repressor ProteinsGerm cell: gene expression mouse testis ontogenesis spermatogenesisChaperonin Containing TCP-1Transcription Factors
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Lipoprotein(a) levels in relation to albumin concentration in childhood nephrotic syndrome

1999

have been found in patients with end-stage renal disMethods. To investigate a model of nephrotic syndrome in eases, whereas after kidney transplantation, Lp(a) levels the absence of renal failure, we studied a group of 84 children seem to decrease [7‐9]. To explain the increase of Lp(a) in different clinical stages of the disease for a period of five plasma levels in end-stage renal diseases, it has been years. We evaluated the direct relationships between lipoproteins, including Lp(a), and/or plasma albumin and proteinuria. suggested that the kidney might play a role in Lp(a) Results. Lp(a) levels were significantly higher in the subjects metabolism as a catabolic site or by producing some…

Maleglycoproteinmedicine.medical_specialtyNephrotic SyndromeRenal functionchildhood nephrotic syndromeInternal medicineplasma albuminmedicineHumansHypoalbuminemiaChildSerum AlbuminApolipoproteins BProteinuriabiologybusiness.industrylipoproteinAlbuminhypoalbuminuriaGlomerulonephritisCholesterol LDLLipoprotein(a)medicine.diseaseEndocrinologyNephrologyChild PreschoolCreatininebiology.proteinFemalelipids (amino acids peptides and proteins)proteinuriamedicine.symptombusinessNephrotic syndromeLipoprotein(a)LipoproteinKidney International
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No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease.

2003

A great amount of evidence suggests that neuroinflammation may be a major pathogenetic mechanism in the pathophysiology of sporadic Alzheimer's Disease (sAD). Recently, polymorphisms in the endothelial nitric oxide synthase (NOS3) gene have been associated to late onset Alzheimer's Disease in a British population. However, other groups failed to replicate this finding in Asiatic and Caucasian populations. We conducted a case-control study including a clinically well-defined group of 149 sAD patients and 149 age and sex matched controls to test the association between NOS3 Glu298Asp polymorphism and sAD in an ethnically homogenous Italian population. All subjects were genotyped at NOS3 and a…

Apolipoprotein EMalemedicine.medical_specialtySettore MED/09 - Medicina InternaApolipoprotein BNitric Oxide Synthase Type IIIPopulationDipeptidePolymorphism (computer science)Alzheimer DiseaseInternal medicinemedicineHumansAlleleeducationAgedAged 80 and overeducation.field_of_studyChi-Square DistributionPolymorphism GeneticbiologyGeneral NeuroscienceCase-control studyDipeptidesMiddle Agedmedicine.diseaseGenotype frequencyEndocrinologyItalyCase-Control StudiesImmunologybiology.proteinSettore MED/26 - NeurologiaFemaleAlzheimer's diseaseNitric Oxide SynthaseCase-Control StudieHumanNeuroscience letters
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