Search results for "Genetic marker"

showing 10 items of 290 documents

Genome-wide scan of fat-tail sheep identifies signals of selection for fat deposition and adaptation

2018

Fat tail in sheep represents a valuable energy reserve for facing future climate changes. The identification of genes with a role in the fat-tail phenotype may contribute to understanding the physiology of fat deposition and the mechanisms of adaptation. Genotypic data obtained with the OvineSNP50K array in 13 thin-tail sheep breeds from Italy were used to identify selection signatures of fat tail through pairwise thin- versus fat-tail sheep breed comparisons, with the following fat-tail breeds of the Mediterranean area: two unique Italian fat-tail breeds (Barbaresca and Laticauda), a Barbary sheep breed from Libya, Ossimi breed from Egypt, Cyprus Fat-Tail and Chios from the Greek islands …

0301 basic medicinesheepGenomicsadaptationfat-tailBarbaresca03 medical and health sciencesSettore AGR/17 - Zootecnica Generale E Miglioramento Geneticobiology.animalLaticaudagenomicsbiologyadaptation; fat-tail; genomics; sheep; Food Science; Animal Science and Zoology0402 animal and dairy science04 agricultural and veterinary sciencesBarbary sheepbiology.organism_classification040201 dairy & animal sciencePhenotypeBreed030104 developmental biologyfat-tail adaptation genomics sheepEvolutionary biologyGenetic markerAnimal Science and ZoologyAdaptationFood Science
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Pharmacological activation of CB2 receptors counteracts the deleterious effect of ethanol on cell proliferation in the main neurogenic zones of the a…

2015

Chronic alcohol exposure reduces endocannabinoid activity and disrupts adult neurogenesis in rodents, which results in structural and functional alterations. Cannabinoid receptor agonists promote adult neural progenitor cell (NPC) proliferation. We evaluated the protective effects of the selective CB1 receptor agonist ACEA, the selective CB2 receptor agonist JWH133 and the fatty-acid amide-hydrolase (FAAH) inhibitor URB597, which enhances endocannabinoid receptor activity, on NPC proliferation in rats with forced consumption of ethanol (10%) or sucrose liquid diets for 2 weeks. We performed immunohistochemical and stereological analyses of cells expressing the mitotic phosphorylation of his…

:Phenomena and Processes::Physiological Phenomena::Physiological Processes::Growth and Development::Morphogenesis::Embryonic and Fetal Development::Organogenesis::Neurogenesis [Medical Subject Headings]CB1 receptorTubulina (proteína)Cannabinoid receptorCarbamatosEtanol:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Nuclear Proteins::Histones [Medical Subject Headings]Ventrículos lateralesSacarosaNeuronasSubgranular zone0302 clinical medicine:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Membrane Proteins::Receptors Cell Surface::Receptors G-Protein-Coupled::Receptors Cannabinoid::Receptor Cannabinoid CB1 [Medical Subject Headings]Histonas:Chemicals and Drugs::Organic Chemicals::Carboxylic Acids::Acids Acyclic::Carbamates [Medical Subject Headings]Receptor cannabinoide CB1Cannabinoid receptor type 2:Organisms::Eukaryota::Animals [Medical Subject Headings]:Phenomena and Processes::Metabolic Phenomena::Metabolism::Phosphorylation [Medical Subject Headings]:Anatomy::Cells::Stem Cells::Neural Stem Cells [Medical Subject Headings]:Anatomy::Nervous System::Neurons [Medical Subject Headings]health care economics and organizations:Anatomy::Nervous System::Central Nervous System::Brain::Cerebral Ventricles::Lateral Ventricles [Medical Subject Headings]Original Research:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleosides::Deoxyribonucleosides::Deoxyuridine::Bromodeoxyuridine [Medical Subject Headings]0303 health sciencesAlcoholismoalcoholConsumo de alcoholNeurogenesis:Phenomena and Processes::Genetic Phenomena::Phenotype::Genetic Markers [Medical Subject Headings]:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents::Cannabinoid Receptor Modulators::Cannabinoid Receptor Agonists [Medical Subject Headings]Benzamidas:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Membrane Proteins::Receptors Cell Surface::Receptors G-Protein-Coupled::Receptors Cannabinoid::Receptor Cannabinoid CB2 [Medical Subject Headings]Endocannabinoid system3. Good healthbromodesoxiuridinaneurogenesisEndocannabinoidesmedicine.anatomical_structure:Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases [Medical Subject Headings]ACEADietaAlcoholFosforilaciónAgonistmedicine.medical_specialtyHidrolasasmedicine.drug_classNeurogenesiseducation:Psychiatry and Psychology::Mental Disorders::Substance-Related Disorders::Alcohol-Related Disorders::Alcoholism [Medical Subject Headings]Subventricular zoneBiology:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet [Medical Subject Headings]:Anatomy::Nervous System::Central Nervous System::Brain::Prosencephalon::Telencephalon::Cerebrum::Cerebral Cortex::Hippocampus::Dentate Gyrus [Medical Subject Headings]lcsh:RC321-57103 medical and health sciencesCellular and Molecular NeuroscienceRatasInternal medicine:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Nerve Tissue Proteins::Tubulin [Medical Subject Headings]JWH133medicineGiro dentadolcsh:Neurosciences. Biological psychiatry. Neuropsychiatry030304 developmental biologyCélulas madre nerviosas:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents::Endocannabinoids [Medical Subject Headings]Dentate gyrusmarcadores genéticosCB2 receptor:Chemicals and Drugs::Carbohydrates::Polysaccharides::Oligosaccharides::Disaccharides::Sucrose [Medical Subject Headings]:Anatomy::Nervous System::Central Nervous System::Brain::Prosencephalon::Diencephalon::Hypothalamus [Medical Subject Headings]:Chemicals and Drugs::Organic Chemicals::Alcohols::Ethanol [Medical Subject Headings]Endocrinology:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Rats [Medical Subject Headings]nervous system:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Drinking Behavior::Alcohol Drinking [Medical Subject Headings]:Chemicals and Drugs::Organic Chemicals::Amides::Benzamides [Medical Subject Headings]030217 neurology & neurosurgeryHipotálamoNeuroscience
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X-Linked Dilated Cardiomyopathy.

1995

We report on a family with a severe form of X-linked dilated cardiomyopathy (DCM). Two brothers, the elder requiring heart transplantation, and a maternal cousin presented elevated creatine kinase levels, increased right ventricular diameters and electrocardiographic abnormalities. All complained of exertional cramping myalgia, but none had muscle weakness or a pathological electromyogram. Muscle biopsies of these individuals revealed a mild myopathic picture with atrophic type I and hypertrophic type II fibers. Immunofluorescence using N- and C-terminal antibodies (dys-2, dys-3) against the dystrophin protein showed preserved, but reduced intensity of staining of the sarcolemmal membranes.…

AdultCardiomyopathy DilatedGenetic MarkersMaleX ChromosomeGenetic LinkageBiopsyMyosinsImmunofluorescencePolymerase Chain ReactionGeneral Biochemistry Genetics and Molecular BiologyDystrophinExonHistory and Philosophy of ScienceWestern blotmedicineHumansRNA MessengerMuscle SkeletalDNA PrimersSequence DeletionSouthern blotRecombination Geneticbiologymedicine.diagnostic_testMyocardiumGeneral NeuroscienceChromosome MappingDilated cardiomyopathyExonsmusculoskeletal systemmedicine.diseaseMolecular biologyPedigreeAlternative Splicingbiology.proteinFemaleCreatine kinaseLod ScoreAntibodyDystrophinAnnals of the New York Academy of Sciences
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Glutathione S-transferase T1 and M1 gene defects in ovarian carcinoma

1998

Glutathione S-transferases (GSTs) M1 and T1 are known to be polymorphic in humans. Both polymorphisms are due to gene deletions, which are responsible for the existence of null genotypes. The gene defect of GSTT1 has been reported to be associated with an increased risk of myelodysplastic syndromes, astrocytoma and meningioma. A lack of GSTM1 was associated with tobacco smoke-induced lung and bladder cancer. In this study we examined whether the GSTT1 and/or GSTM1 homozygous null genotypes were associated with an increased risk of ovarian cancer using a multiplex polymerase chain reaction protocol. The GSTT1 null genotype was observed in 14% of the control subjects that had never suffered f…

AdultGenetic MarkersCancer Researchmedicine.medical_specialty10050 Institute of Pharmacology and Toxicology610 Medicine & healthGastroenterologyInternal medicineOvarian carcinomaGenotypemedicineCarcinomaHumans1306 Cancer ResearchFamily historyneoplasmsAgedGlutathione TransferaseAged 80 and overOvarian NeoplasmsPolymorphism GeneticBladder cancerbiologyAge FactorsAstrocytomaMiddle Agedmedicine.diseaseNeoplasm ProteinsGlutathione S-transferaseEndocrinologyOncologybiology.protein570 Life sciences; biologyFemale2730 OncologyOvarian cancerCancer Letters
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Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver

2017

Abstract Background and Aims Nonalcoholic fatty liver disease is epidemiologically associated with hepatic and metabolic disorders. The aim of this study was to examine whether hepatic fat accumulation has a causal role in determining liver damage and insulin resistance. Methods We performed a Mendelian randomization analysis using risk alleles in PNPLA3, TM6SF2, GCKR and MBOAT7, and a polygenic risk score for hepatic fat, as instruments. We evaluated complementary cohorts of at‐risk individuals and individuals from the general population: 1515 from the liver biopsy cohort (LBC), 3329 from the Swedish Obese Subjects Study (SOS) and 4570 from the population‐based Dallas Heart Study (DHS). Re…

AdultGenetic MarkersLiver CirrhosisMalenonalcoholic fatty liver diseaseNon-alcoholic Fatty Liver Diseaseinsulin resistanceHumansgeneticsProspective StudiesAdaptor Proteins Signal TransducingSettore MED/12 - GastroenterologiafibrosisMembrane ProteinsOriginal ArticlesLipaseMendelian Randomization AnalysisAdipose TissueDiabetes Mellitus Type 2Chronic Diseasemendelian randomizationOriginal ArticleFemaletype 2 diabetesgeneticfibrosiAcyltransferases
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C4BQ0: a genetic marker of familial HCV-related liver cirrhosis

2004

Source Department of Medicine and Pneumology, V Cervello Hospital, Via Trabucco 180, 90146 Palermo, Italy. lindpas@yahoo.it Abstract BACKGROUND AND METHODS: Host may have a role in the evolution of chronic HCV liver disease. We performed two cross-sectional prospective studies to evaluate the prevalence of cirrhosis in first degree relatives of patients with cirrhosis and the role of two major histocompatibility complex class III alleles BF and C4 versus HCV as risk factors for familial clustering. FINDINGS: Ninety-three (18.6%) of 500 patients with cirrhosis had at least one cirrhotic first degree relative as compared to 13 (2.6%) of 500 controls, (OR 7.38; CI 4.21-12.9). C4BQ0 was signifi…

AdultGenetic MarkersLiver Cirrhosismedicine.medical_specialtyCirrhosisAdolescentFamilial clusteringFamilial clusteringGastroenterologyLiver cirrhosiC4BQ0Liver diseaseInternal medicineHCV diffusionComplement C4bPrevalencemedicineHumansProspective StudiesAlleleFamily historyFirst-degree relativesMHC class III allelesChildProspective cohort studyAllelesAgedAged 80 and overHepatologybusiness.industryGastroenterologyHepatitis C ChronicMiddle Agedmedicine.diseaseCross-Sectional StudiesGenetic markerbusinessC4BQ0; Familial clustering; HCV diffusion; Liver cirrhosis; MHC class III allelesDigestive and Liver Disease
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Association study of suicidal behavior and affective disorders with a genetic polymorphism in ABCG1, a positional candidate on chromosome 21q22.3

2000

The gene that codes for the ABC transporter ABCG1 is located in a chromosomal susceptibility region (21q22.3) for affective disorders. Genetic variations in ABCG1 have been associated with affective disorders in Japanese males. In this study, we investigated the distribution of a G2457A polymorphism in patients with affective disorders, suicide attempters with various psychiatric diagnoses and healthy subjects. We initially found a trend towards a modest association with affective disorders in males (p = 0.046 for allele frequencies and p = 0.046 for AA versus GG). We conducted a replication study with independent patients and controls. There was no association with affective disorders, eit…

AdultGenetic MarkersMaleAdolescentGenotypeChromosomes Human Pair 21Positional candidatePoison controlBiologyChromosome (genetic algorithm)Polymorphism (computer science)GenotypemedicineHumansPharmacology (medical)AlleleAssociation (psychology)Allele frequencyAllelesBiological PsychiatryATP Binding Cassette Transporter Subfamily G Member 1AgedPharmacologyGeneticsPolymorphism GeneticSuicide attemptMood DisordersDNAMiddle Agedmedicine.diseaseSuicidePsychiatry and Mental healthNeuropsychology and Physiological PsychologyMood disordersNeurologyGenetic markerSuicidal behaviorATP-Binding Cassette TransportersFemaleNeurology (clinical)PsychologyEuropean Neuropsychopharmacology
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A 588-gene microarray analysis of the peripheral blood mononuclear cells of spondyloarthropathy patients

2002

OBJECTIVES: To identify genes which are more highly expressed in the peripheral blood mononuclear cells (PBMC) of patients with spondyloarthropathy (SpA), rheumatoid arthritis (RA) and psoriatic arthritis (PsA), in comparison to normal subjects. METHODS: A 588-gene microarray was used as a screening tool to select a panel of such genes from PBMC of these subjects and of normal subjects. Results were then validated by reverse transcription-polymerase chain reaction (RT-PCR). RESULTS: The following genes were more highly expressed in arthritis patients than in normal subjects: macrophage differentiation marker MNDA (myeloid nuclear differentiation antigen), MRP8 and MRP14 (migratory inhibitor…

AdultGenetic MarkersMaleCCR1Receptors CXCR4AdolescentSpondyloarthropathyArthritisPeripheral blood mononuclear cellArthritis RheumatoidPsoriatic arthritisRheumatologymedicineHumansSpondylitis AnkylosingPharmacology (medical)AgedOligonucleotide Array Sequence AnalysisReverse Transcriptase Polymerase Chain Reactionbusiness.industryJanus kinase 3Arthritis PsoriaticSynovial MembraneMNDAInterleukinDNAMiddle Agedmedicine.diseaseAntigens DifferentiationChemokine CXCL12ImmunologyLeukocytes MononuclearFemalebusinessChemokines CXCRheumatology (Oxford, England)
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Myeloid sarcoma: clinico-pathologic, phenotypic and cytogenetic analysis of 92 adult patients.

2007

Myeloid sarcoma ( MS) is a rare neoplasm whose knowledge is largely based on case reports and/or technically dated contributions. Ninety-two MSs in adulthood with clinical data available were evaluated both morphologically and immunohistochemically. Seventy-four cases were also studied by fluorescent in situ hybridization on tissue sections and/or conventional karyotyping on bone marrow or peripheral blood. Histologically, 50% of the tumors were of the blastic type, 43.5% either monoblastic or myelomonocytic and 6.5% corresponded to different histotypes. CD68/KP1 was the most commonly expressed marker (100%), followed by myeloperoxidase (83.6%), CD117 (80.4%), CD99 (54.3%), CD68/PG-M1 (51%)…

AdultGenetic MarkersMaleCancer ResearchPathologymedicine.medical_specialtyAdolescentLymphomaCD34BiologyTrisomy 8Translocation Geneticcytogeneticsmyeloid sarcoma; chloroma; FISH; cytogenetics; immunohistochemistry; prognosisFISHAntigens CDmyeloid sarcomamedicineMyeloid sarcomaHumansIn Situ Hybridization FluorescenceAgedAged 80 and overChromosome Aberrationsmedicine.diagnostic_testCytogeneticschloromaSarcomaHematologyMiddle Agedmedicine.diseaseTransplantationLeukemiaPhenotypeOncologyLeukemia MyeloidimmunohistochemistryFemaleprognosisSarcomaalpha interferonCD30 antigenCD34 antigenFluorescence in situ hybridization
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Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia.

2003

The Philadelphia (Ph) chromosome is found in more than 90% of chronic myelocytic leukemia (CML) patients. In most cases, it results from the reciprocal t(9;22)(q34;q11), with the ABL proto-oncogene from 9q34 fused to the breakpoint cluster region (BCR) locus on 22q11. In 5%-10% of patients with CML, the Ph chromosome originates from variant translocations, involving various breakpoints in addition to 9q34 and 22q11. In our investigation, three CML cases with complex Ph translocations have been analyzed by G-banding and fluorescence in situ hybridization (FISH). FISH with breakpoint-spanning probes for the BCR and ABL genes revealed information about the genesis of complex Ph translocations.…

AdultGenetic MarkersMaleCancer Researchmedicine.medical_specialtyChromosomes Human Pair 22Chromosomal translocationLocus (genetics)BiologyPhiladelphia chromosomeProto-Oncogene MasTranslocation Genetichemic and lymphatic diseasesLeukemia Myelogenous Chronic BCR-ABL PositiveGeneticsmedicineHumansPhiladelphia ChromosomeMolecular BiologyIn Situ Hybridization FluorescenceGeneticsABLmedicine.diagnostic_testChromosomes Human Pair 11BreakpointCytogeneticsbreakpoint cluster regionGenetic VariationMiddle Agedmedicine.diseaseChromosome BandingKaryotypingFemaleChromosomes Human Pair 9Fluorescence in situ hybridizationCancer genetics and cytogenetics
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