Search results for "nucleotide"

showing 10 items of 2180 documents

Late Activation of Stress-activated Protein Kinases/c-Jun N-terminal Kinases Triggered by Cisplatin-induced DNA Damage in Repair-defective Cells

2011

Although stress-activated protein kinases/c-Jun N-terminal kinases (SAPK/JNK) are rapidly activated by genotoxins, the role of DNA damage in this response is not well defined. Here we show that the SEK1/MKK4-mediated dual phosphorylation of SAPK/JNK (Thr-183/Tyr-185) correlates with the level of cisplatin-DNA adducts at late times (16–24 h) after drug treatment in both human and mouse cells. Transfection of platinated plasmid DNA also caused SAPK/JNK activation. A defect in transcription-coupled nucleotide excision repair resting on a mutation in Cockayne syndrome group B protein promoted the late SAPK/JNK activation following cisplatin exposure. Signaling to SAPK/JNK was accompanied by act…

rho GTP-Binding ProteinsDNA RepairMAP Kinase Kinase 4DNA repairDNA damageDNA damage response; DNA repair; cisplatin-DNA adducts; SAPK/JNKp38 mitogen-activated protein kinasesAntineoplastic AgentsCell Cycle ProteinsAtaxia Telangiectasia Mutated ProteinsProtein Serine-Threonine KinasesDNA and ChromosomesBiologyBiochemistryAtaxia Telangiectasia Mutated ProteinsDNA AdductsMiceRadiation IonizingAnimalsHumansDNA Breaks Double-StrandedMolecular BiologyReplication protein ACells CulturedMice KnockoutKinaseTumor Suppressor ProteinsJNK Mitogen-Activated Protein KinasesCell BiologyMolecular biologyDNA-Binding ProteinsEnzyme Activationc-Jun N-terminal kinasesbiology.proteinCisplatinSignal TransductionNucleotide excision repairJournal of Biological Chemistry
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Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

schizophrenia; sequence variants; TCF4Genome-wide association studyTranscription Factor 40302 clinical medicineVRK2 protein humanPolymorphism (computer science)Genotypegenetics [Schizophrenia]NeurograninGenetics (clinical)Schizophrenia; Genotype; Risk; Alleles; Polymorphism Single Nucleotide; Transcription Factors; Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Genome-Wide Association StudyGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsAssociation Studies ArticlesSingle NucleotideGeneral MedicineTCF4genetics [Transcription Factors]Protein-Serine-Threonine Kinases3. Good healthJRiskGenotypeProtein Serine-Threonine KinasesBiologyPolymorphism Single Nucleotidegenetics [Protein-Serine-Threonine Kinases]Molecular epidemiology [NCEBP 1]03 medical and health sciencesddc:570GeneticsHumansGenetic Predisposition to DiseasePolymorphismAllelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Settore MED/25 - PsichiatriaMolecular BiologyAllelesTCF4Molecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologysequence variantsIntronOdds ratioMolecular biologySchizophreniaTCF4 protein human030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
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Biomolecular investigation in osteoarthritis

2012

single nucleotide polymorphism osteoarthritis
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Genomic Tools for the Characterization of Local Animal Genetic Resources: Application in Mascaruna Goat

2022

Italy contains a large number of local goat populations, some of which do not have a recognized genetic structure. The “Mascaruna” is a goat population reared for milk production in Sicily. In this study, a total of 72 individuals were genotyped with the Illumina Goat_IGGC_65K_v2 BeadChip with the aim to characterize the genetic diversity, population structure and relatedness with another 31 Italian goat populations. The results displayed a moderate level of genetic variability for Mascaruna, in concordance with the estimated values for Italian goats. Runs of homozygosity islands are linked to genes involved in milk production, immune response and local adaptation. Population structure anal…

single nucleotide polymorphismsSettore AGR/17 - Zootecnica Generale E Miglioramento Geneticolocal goat; single nucleotide polymorphisms; genetic structuregenetic structure local goat single nucleotide polymorphismsGeneral Veterinarygenetic structureAnimal Science and Zoologylocal goat
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Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry

2009

We conducted meta-analyses of genome-wide association studies (GWAS) for atrial fibrillation (AF) in participants from five community-based cohorts. Meta-analyses of 896 prevalent (15,768 referents) and 2,517 incident (21,337 referents) AF cases identified a novel locus for AF (ZFHX3, rs2106261, risk ratio [RR]=1.19; P=2.3×10−7), an association that was replicated in the German AF Network (odds ratio=1.44; P=1.6×10−11). Combining the discovery and replication results, rs2106261 was significantly associated with AF (RR=1.25; P=1.8×10−15).

single nucleotideEuropean Continental Ancestry Group/*geneticsmedicine.medical_specialtyMutation/*geneticsGenome-wide association study030204 cardiovascular system & hematologyBiologyPolymorphism Single NucleotideArticleWhite PeoplepolymorphismHomeodomain Proteins/*genetics03 medical and health sciences0302 clinical medicineMeta-Analysis as TopicInternal medicineAtrial FibrillationGeneticsmedicineHumansGenetic Predisposition to Disease030304 developmental biologyGenetic associationHomeodomain Proteinsddc:6160303 health sciencesAtrial Fibrillation/*geneticsReproducibility of ResultsAtrial fibrillationOdds ratioPolymorphism Single Nucleotide/geneticsmedicine.disease*Genetic Predisposition to DiseaseMeta-analysisRelative riskMutationCohortepidemiologyChromosomes Human Pair 16/geneticsChromosomes Human Pair 16Genome-Wide Association StudyNature Genetics
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Cationic microemulsion hosting polynucleotides: Effect of NaCl on host and guest

2004

The structural features of the quaternary water-in-oil microemulsion CTAB/n-hexane/n-pentanol/water in the presence of fairly high concentrations of NaCl and of relatively high molecular weight polynucleotides have been determined. Even in these severe conditions, the hosting system can still be depicted as formed by water droplets stabilised by a surfactant/cosurfactant layer. Moreover, the time stability of the host/guest system has been evaluated and the phase behaviour of the hosting system in the presence of increasing concentrations of NaCl determined.

spectroscopySettore CHIM/03 - Chimica Generale E Inorganicasodium chloridequaternary microemulsionconductivitypolynucleotide
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Acid–base properties of functionalised tripodal polyamines and their interaction with nucleotides and nucleic acids

2010

Novel, highly positively charged tripodal polyamines with appended heterocyclic moieties revealed an intriguing panel of protonation species within the biologically relevant range. Studied compounds bind nucleotide monophosphates by mostly electrostatic interactions but only the imidazole analogue showed selectivity toward UMP in respect to other nucleotides. Strong binding of all the studied compounds to both ds-DNA and ds-RNA is to some extent selective toward the latter, showing rather rare RNA over DNA preference.

tripodal polyamines; DNA and RNA interactions; RNA selectivity; nucleotidesMagnetic Resonance SpectroscopyStereochemistryProtonation010402 general chemistry01 natural sciencesBiochemistrychemistry.chemical_compoundNucleic AcidsPolyaminesImidazoleNucleotidePhysical and Theoretical Chemistrychemistry.chemical_classificationMolecular StructureNucleotides010405 organic chemistryOrganic ChemistryWaterRNANuclear magnetic resonance spectroscopyHydrogen-Ion Concentration0104 chemical sciencesSolutionsChemistrychemistryNucleic acidThermodynamicsProtonsSelectivityDNAOrganic & Biomolecular Chemistry
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Regulation of type 1 fimbriae synthesis and biofilm formation by the transcriptional regulator LrhA of Escherichia coli

2005

Type 1 fimbriae ofEscherichia colifacilitate attachment to the host mucosa and promote biofilm formation on abiotic surfaces. The transcriptional regulator LrhA, which is known as a repressor of flagellar, motility and chemotaxis genes, regulates biofilm formation and expression of type 1 fimbriae. Whole-genome expression profiling revealed that inactivation oflrhAresults in an increased expression of structural components of type 1 fimbriae.In vitro, LrhA bound to the promoter regions of the twofimrecombinases (FimB and FimE) that catalyse the inversion of thefimApromoter, and to the invertible element itself. TranslationallacZfusions with these genes and quantification offimEtranscript le…

urinary-tractphase variationFimbrialac operonRepressorsuicide vectorBiologyFlagellummedicine.disease_causeMicrobiologyBacterial AdhesionMicrobiologylysr homologMiceglobal regulatorh-nsEscherichia colimedicineAnimalsHumansgenetic-analysisPromoter Regions GeneticEscherichia coliEscherichia coli InfectionsOligonucleotide Array Sequence AnalysisPhase variationRegulation of gene expressionfim switchEscherichia coli ProteinsGene Expression ProfilingBiofilmGene Expression Regulation Bacterialbiochemical phenomena metabolism and nutritionintegration host factorBiofilmsFimbriae BacterialMutationUrinary Tract Infectionsvirulence determinantsTranscription Factors
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Incidence and dynamics of active cytomegalovirus infection in allogeneic stem cell transplant patients according to single nucleotide polymorphisms i…

2014

Single nucleotide polymorphisms (SNPs) in genes involved in the activation or regulation of innate and adaptive immune responses may modulate the susceptibility to and the natural history of certain chronic viral infections. The current study aimed to investigate whether donor and recipient SNPs in the chemokine receptor 5 (rs1800023), monocyte chemoattractant protein 1 (rs13900), interleukin-10 (rs1878672), and Toll-like receptor 9 (rs352140) genes would exert any influence on the rate of incidence and features of CMV DNAemia in the allogeneic stem cell transplantation setting. This was a retrospective observational multicenter study. The cohort consisted of 102 non-consecutive allogeneic …

virus diseasesTLR9Single-nucleotide polymorphismBiologyVirologySNP genotypingTransplantationInterleukin 10Chemokine receptorInfectious DiseasesImmune systemVirologyGenotypeImmunologyJournal of Medical Virology
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