Search results for "Complement"

showing 10 items of 2113 documents

Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene

2016

Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation-negative MBC cases.Germ-line DNA of 1 male and 2 female BRCA1/2 mutation-negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES. Targeted gene sequencing for the validation of WES results was performed for 48 …

MaleCancer ResearchDNA Mutational AnalysisBreast NeoplasmsBreast Neoplasms MaleDNA Mutational AnalysiGenetic susceptibility; Male breast cancer; N-acetyltransferase 1 (NAT1); Partner and localizer of BRCA2 (PALB2); Whole-exome sequencing; Oncology; Cancer ResearchGenetic susceptibilityHumansExomeGenetic Predisposition to DiseaseN-acetyltransferase 1 (NAT1)genetic susceptibility; male breast cancer; N-acetyltransferase 1 (NAT1); partner and localizer of BRCA2 (PALB2); whole-exome sequencing; BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Breast Neoplasms Male; Case-Control Studies; DNA Mutational Analysis; Exome; Fanconi Anemia Complementation Group N Protein; Female; Genetic Predisposition to Disease; Humans; Italy; Male; Mutation; Nuclear Proteins; Pedigree; Tumor Suppressor Proteins; Oncology; Cancer ResearchNuclear ProteinBRCA2 ProteinTumor Suppressor ProteinBRCA1 ProteinTumor Suppressor ProteinsPartner and localizer of BRCA2 (PALB2)Nuclear ProteinsPedigreeMale breast cancerItalyOncologyCase-Control StudiesWhole-exome sequencingMutationFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinBreast NeoplasmHuman
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Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

2012

Pancreatic adenocarcinoma (PC) is the third most common cancer associated with BRCA mutations. Most notice has been given to BRCA2, while the association between BRCA1 and PC is less widely reported. Recently, PALB2 has been implicated in both PC and breast cancer (BC) susceptibility. We selected 29 Italian PC patients from a case-control study of PC according to their personal and family history of both PC and breast/ovarian cancer (BC/OC) and tested them for presence of germline mutations in BRCA1, BRCA2 and PALB2. We identified no germline mutations or deletions in PALB2, but detected 7 BRCA mutations (4 in BRCA1 and 3 in BRCA2). These findings suggest that PALB2 does not play a major ro…

MaleCancer Researchendocrine system diseasesSettore MED/06 - Oncologia MedicaBRCAGermlineGermline mutationHereditary breast ovarian cancer syndrome (HBOC)skin and connective tissue diseasesGenetics (clinical)Nuclear ProteinOvarian NeoplasmsAged 80 and overGeneticseducation.field_of_studyBRCA1 ProteinPancreatic NeoplasmNuclear ProteinsMiddle Agedfemale genital diseases and pregnancy complicationsPedigreeItalyOncologyAdenocarcinomaFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinPancreatic cancer susceptibility; BRCA; PALB2; Hereditary breast ovarian cancer syndrome (HBOC); Germline mutationBreast NeoplasmHumanAdultPALB2PopulationBreast NeoplasmsAdenocarcinomaGermline mutationBreast cancerGeneticPancreatic cancerGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationGerm-Line MutationAgedBRCA2 ProteinTumor Suppressor Proteinbusiness.industryTumor Suppressor ProteinsOvarian NeoplasmCancermedicine.diseasePancreatic cancer susceptibilityPancreatic NeoplasmsCase-Control StudiesPALB2businessGene DeletionFamilial Cancer
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Nonradioactive Detection of Differentially Expressed Genes Using Complex RNA or DNA Hybridization Probes

1999

The analysis of differential gene expression has become increasingly important in recent years. Typically, differentially expressed genes are identified in a primary screening procedure, yielding candidate genes whose differential expression has to be verified. We provide a highly sensitive, efficient and nonradioactive differential screening procedure to analyze numerous candidate genes in a single step. This comprises labeling of poly(A)+ RNA of the cell types analyzed with DIG Chem-Link and differential hybridization to the candidate genes fixed on dot blots. DIG Chem-Link allows, to our knowledge, for the first time efficient and direct nonradioactive labeling of RNA in vitro. Advantag…

MaleCandidate geneDNA ComplementaryMolecular Probe TechniquesBiologySensitivity and SpecificityGeneral Biochemistry Genetics and Molecular BiologyMiceDigGene expressionAnimalsHumansGeneGenomic LibraryMice Inbred BALB CMessenger RNADNA–DNA hybridizationNucleic Acid HybridizationRNARNA ProbesMolecular biologyGene Expression RegulationGenesLangerhans CellsLuminescent MeasurementsFemaleMolecular probeDigoxigeninBiotechnologyBioTechniques
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Structural and functional characterization of a human IgG monoclonal antiphospholipid antibody

2009

Antiphospholipid antibodies (aPL) are likely involved in the pathogenesis of the antiphospholipid syndrome (APS). This study analyzes the structural and functional characteristics of a human monoclonal aPL (HL7G) from the IgG2 subtype with λ light chains generated from a patient with primary APS and recurrent cerebral microemboli. DNA encoding the variable region of heavy and light chains of the antibody was sequenced, analyzed, and compared to HL5B a previously described monoclonal aPL from the same patient. Both antibodies are derived from the same germline genes. HL7G had similar but more extensive somatic mutations in the CDR1 and 2 regions than HL5B, indicating that both antibodies are…

MaleCardiolipinsmedicine.drug_classImmunologySomatic hypermutationComplementarity determining regionMonoclonal antibodyImmunoglobulin light chainThromboplastinAntigenimmune system diseasesAntiphospholipid syndromemedicineHumansImmunology and AllergyneoplasmsCells CulturedMolecular StructurebiologyAntibodies MonoclonalT-Lymphocytes Helper-InducerHematologyMiddle AgedAntiphospholipid Syndromemedicine.diseaseComplementarity Determining RegionsMolecular biologybeta 2-Glycoprotein IImmunoglobulin GImmunologyMonoclonalAntibodies Antiphospholipidbiology.proteinSomatic Hypermutation ImmunoglobulinAntibodyImmunobiology
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Seasonal photoperiodism regulates the expression of cuticular and signalling protein genes in the pea aphid

2007

International audience; Seasonal photoperiodism in aphids is responsible for the spectacular switch from asexual to sexual reproduction. However, little is known on the molecular and physiological mechanisms involved in reproductive mode shift through the action of day length. Earlier works showed that aphid head, but not eyes, directly perceives the photoperiodic signal through the cuticle. In order to identify genes regulating the photoperiodic response, a 3321 cDNA microarray developed for the pea aphid, Acyrthosiphon pisum was used to compare RNA populations extracted from heads of short- and long-day reared aphids. Microarray analyses revealed that 59 different transcripts were signifi…

MaleCell signalingPhotoperiodBiologyBiochemistry03 medical and health sciences0302 clinical medicineComplementary DNAAnimals[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyRNA MessengerMolecular BiologyGeneOligonucleotide Array Sequence Analysis030304 developmental biologyGeneticsphotoperiodism0303 health sciencesAphidReverse Transcriptase Polymerase Chain ReactionGene Expression Profilingfood and beveragesbiology.organism_classificationSexual reproductionAcyrthosiphon pisumADNcGene Expression RegulationAphidsInsect ScienceInsect ProteinsFemaleSeasonsHeadMoulting030217 neurology & neurosurgerySignal Transduction
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Novel complement C1 inhibitor BSF468248 does not improve brain damage after cortical vein occlusion

2003

BSF468248 is a novel potent complement C1 inhibitor. To determine whether BSF468248 is effective against focal cerebral ischemia, we evaluated the change of cerebral blood flow (CBF) and infarction volume using a photochemically-induced cortical vein occlusion model in rats in blind studies. In 22 Wistar rats, two adjacent cortical veins were occluded by photochemical thrombosis and fiberoptic illumination under controlled anesthesia and ventilation. Just after the occlusion, BSF468248 or physiological saline was administrated. In the low-dose study, a treatment group (n = 7) was administered BSF468248 1 mg/kg bolus and 1 mg/kg continuously for 30 min. The same volume of saline was given to…

MaleCerebral veinsPhotochemistrymedicine.medical_treatmentComplement C1 Inactivator ProteinsRats Sprague-DawleyBolus (medicine)OcclusionmedicineAnimalsRats WistarInfusions IntravenousSalineCerebral Cortexbusiness.industryCerebral InfarctionBlood flowCortical Veinmedicine.diseaseCerebral VeinsThrombosisRatsDisease Models AnimalTreatment OutcomeCerebral blood flowRegional Blood FlowBrain InjuriesCerebrovascular CirculationAnesthesiaIntracranial ThrombosisbusinessOligopeptidesMethods and Findings in Experimental and Clinical Pharmacology
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Hepatoprotective and anti-inflammatory effects of total flavonoids of Qu Zhi Ke (peel of Citrus changshan-huyou) on non-alcoholic fatty liver disease…

2019

Abstract Background Citrus flavonoids, consisting of naringin, narirutin, neohesperidine, etc., have therapeutic activities for the treatment of lipometabolic disorders. The peel of Citrus changshan-huyou (Qu Zhi Ke, QZK) is a new source of flavonoids, but attracted little attention so far. Hypothesis QZK should possess therapeutic effects against lipometabolic disorders due to the flavonoids it contains. Study design In this study, we extracted and purified the flavonoids of QZK (TFCH) and established an obesity-induced non-alcoholic fatty liver disease (NAFLD) model of rats. TFCH was given orally for 8 weeks, and its anti-NAFLD effects and potential mechanism were evaluated. Methods The f…

MaleCitrusmedicine.drug_classFlavonoidPharmaceutical SciencePharmacologyDiet High-FatProtective AgentsAnti-inflammatoryProinflammatory cytokineRats Sprague-Dawley03 medical and health scienceschemistry.chemical_compound0302 clinical medicineWestern blotNon-alcoholic Fatty Liver DiseaseDrug DiscoveryNonalcoholic fatty liver diseasemedicineAnimalsPhosphorylationNaringin030304 developmental biologyFlavonoidsPharmacologychemistry.chemical_classification0303 health sciencesNarirutinmedicine.diagnostic_testPlant ExtractsAnti-Inflammatory Agents Non-SteroidalFatty liverNF-kappa Bfood and beveragesmedicine.diseaseGene Expression RegulationLiverComplementary and alternative medicinechemistry030220 oncology & carcinogenesisMolecular MedicineMitogen-Activated Protein KinasesPhytomedicine
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Bacteria-Derived Compatible Solutes Ectoine and 5α-Hydroxyectoine Act as Intestinal Barrier Stabilizers to Ameliorate Experimental Inflammatory Bowel…

2015

Earlier studies showed that the compatible solute ectoine (1) given prophylactically before induction of colitis by 2,4,6-trinitrobenzenesulfonic acid (TNBS) in rats prevented histological changes induced in the colon and the associated rise in inflammatory mediators. This study was therefore conducted to investigate whether ectoine (1) and its 5α-hydroxy derivative (2) would also be effective in treating an already established condition. Two days after inducing colitis in rats by instilling TNBS/alcohol in the colon, animals were treated orally once daily for 1 week with either 1 or 2 (50, 100, 300 mg/kg). Twenty-four hours after the last drug administration rats were sacrificed. Ulcerativ…

MaleColonInterleukin-1betaPharmaceutical SciencePharmacologyEctoineInflammatory bowel diseaseAnalytical Chemistrychemistry.chemical_compoundDrug DiscoverymedicineAnimalsHumansRats WistarColitisPeroxidasePharmacologyBacteriaMolecular StructurebiologyTumor Necrosis Factor-alphaChemistryOrganic ChemistryAmino Acids DiaminoGlutathioneColitisInflammatory Bowel DiseasesIntercellular Adhesion Molecule-1medicine.diseasebiology.organism_classificationGlutathioneRatsIntestinesSolutionsTrinitrobenzenesulfonic AcidComplementary and alternative medicineBiochemistryMyeloperoxidasebiology.proteinMolecular MedicineEgyptOsmoprotectantTumor necrosis factor alphaBacteriaJournal of Natural Products
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Identical T-cell expansions in the colon mucosa and the synovium of a patient with enterogenic spondyloarthropathy.

2000

Abstract Intestinal T lymphocytes activated by antigen are suspected to play a key role in enterogenic spondyloarthropathies (SpA). Therefore, we aimed to identify and functionally characterize T-cell clones that are coexpanded in the intestinal mucosa and the synovium. Colon, peripheral blood, and synovium of a patient with enterogenic SpA were screened for clonal T-cell expansions by TCRB-CDR3 length analysis and sequencing. T-cell clones expanded in vivo were isolated from archived synovial cells by targeted T-cell cloning and characterized for phenotype, cytokine production, and antigen specificity. The synovial TCRBV18 + T-cell repertoire of the patient was dominated by 2 CD8 + T-cell …

MaleColonT cellReceptors Antigen T-Cell alpha-betaT-LymphocytesMolecular Sequence DataCD8-Positive T-LymphocytesPeripheral blood mononuclear cellAntigenIntestinal mucosaMedicineSynovial fluidHumansAmino Acid SequenceIntestinal MucosaHepatologybusiness.industryT-cell receptorSynovial MembraneGastroenterologyInterleukinMiddle AgedComplementarity Determining RegionsClone CellsIntestinal Diseasesmedicine.anatomical_structureImmunologyCytokinesATP-Binding Cassette TransportersSpinal DiseasesbusinessCD8T-Lymphocytes CytotoxicGastroenterology
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Isolation and characterization of maerophage-derived C1q and its similarities to serum C1q

1986

Recently, we have shown that the collagen-like, Fc-recognizing subcomponent C1q of the first complement component is synthesized by human, guinea pig and mouse peritoneal macrophages. To test whether macrophages may contribute to the serum pool of C1q, C1q was purified from guinea pig serum and from guinea pig peritoneal macrophage supernatants and compared for similarities. Both molecules had a similar sedimentation rate (macrophage C1q: 11.3 S, serum C1q: 11.2 S) and showed on sodium dodecyl sulfate-polyacrylamide gel electrophoresis under reducing conditions three identical bands with molecular weights of Mr, 29 000, Mr, 27 000 and Mr 23 000 for the A, B and C chains, respectively. Both …

MaleComplement Activating EnzymesGuinea PigsImmunologychemical and pharmacologic phenomenaImmunoelectrophoresisBiologyurologic and male genital diseasesChromatography AffinityGuinea pigfluids and secretionsAntigenimmune system diseasesmedicineAnimalsImmunology and AllergyMacrophageskin and connective tissue diseasesComplement C1qGel electrophoresisMolecular massmedicine.diagnostic_testComplement C1qMacrophagesOuchterlony double immunodiffusionBiochemistryFemaleEuropean Journal of Immunology
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