Search results for "genetics [Mutation]"

showing 10 items of 3026 documents

Reanalysis of Chinese Treponema pallidum samples: all Chinese samples cluster with SS14-like group of syphilis-causing treponemes

2018

[Objective]: Treponema pallidum subsp. pallidum (TPA) is the causative agent of syphilis. Genetic analyses of TPA reference strains and human clinical isolates have revealed two genetically distinct groups of syphilis-causing treponemes, called Nichols-like and SS14-like groups. So far, no genetic intermediates, i.e. strains containing a mixed pattern of Nichols-like and SS14-like genomic sequences, have been identifed. Recently, Sun et al. (Oncotarget 2016. https://doi. org/10.18632/oncotarget.10154) described a new “phylogenetic group” (called Lineage 2) among Chinese TPA strains. This lineage exhibited a “mosaic genomic structure” of Nichols-like and SS14-like lineages.

0301 basic medicineChinaLineage (genetic)Sequencing datalcsh:MedicineGenome sequencingPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyDNA sequencing03 medical and health sciencesmedicineHumansTreponema pallidumSyphilislcsh:Science (General)lcsh:QH301-705.5GenePhylogenyGeneticsTreponemaPhylogenetic analysisbiologyPhylogenetic treeintegumentary systemlcsh:RGeneral MedicineSequence Analysis DNAbiology.organism_classificationmedicine.disease3. Good healthSingle nucleotide variantResearch Note030104 developmental biologylcsh:Biology (General)SyphilisMixed patternGenome Bacteriallcsh:Q1-390BMC Research Notes
researchProduct

Analysis of RNA modifications by liquid chromatography–tandem mass spectrometry

2016

The analysis of RNA modifications is of high importance in order to address a wide range of biological questions. Therefore, a highly sensitive and accurate method such as liquid chromatography-tandem mass spectrometry (LC-MS/MS) has to be available. By using different LC-MS/MS procedures, it is not only possible to quantify very low amounts of RNA modifications, but also to detect probably unknown modified nucleosides. For these cases the dynamic multiple reaction monitoring and the neutral loss scan are the most common techniques. Here, we provide the whole workflow for analyzing RNA samples regarding their modification content. This includes an equipment list, the preparation of required…

0301 basic medicineChromatographyChemistrySelected reaction monitoringMs analysisRNATandem mass spectrometryMass spectrometryModified nucleosidesGeneral Biochemistry Genetics and Molecular BiologyHighly sensitive03 medical and health sciences030104 developmental biologyTandem Mass SpectrometryLiquid chromatography–mass spectrometryHumansRNARNA Processing Post-TranscriptionalMolecular BiologyChromatography LiquidMethods
researchProduct

CENP-A Is Dispensable for Mitotic Centromere Function after Initial Centromere/Kinetochore Assembly

2016

SummaryHuman centromeres are defined by chromatin containing the histone H3 variant CENP-A assembled onto repetitive alphoid DNA sequences. By inducing rapid, complete degradation of endogenous CENP-A, we now demonstrate that once the first steps of centromere assembly have been completed in G1/S, continued CENP-A binding is not required for maintaining kinetochore attachment to centromeres or for centromere function in the next mitosis. Degradation of CENP-A prior to kinetochore assembly is found to block deposition of CENP-C and CENP-N, but not CENP-T, thereby producing defective kinetochores and failure of chromosome segregation. Without the continuing presence of CENP-A, CENP-B binding …

0301 basic medicineChromosomal Proteins Non-HistoneMedical PhysiologyEpigenesis GeneticChromosome segregationModelsChromosome SegregationKinetochoresGeneticsTumormitosiKinetochorekinetochoreCell biologyChromatinChromosomal Proteinsprotein degradationCENP-ACENP-BepigeneticCENP-C1.1 Normal biological development and functioningKinetochore assemblyCentromerechromosome segregationMitosismacromolecular substancesBiologyProtein degradationModels BiologicalGeneral Biochemistry Genetics and Molecular BiologyArticleCell Line03 medical and health sciencesGeneticUnderpinning researchCentromere Protein ACell Line TumorCentromereGeneticsHumansMitosisNon-HistoneBiologicalSettore BIO/18 - Genetica030104 developmental biologyGeneric health relevanceBiochemistry and Cell BiologyauxinCentromere Protein AEpigenesisCell Reports
researchProduct

Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1

2018

Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a network of scientists and clinicians coordinating research from basic science through to clinical care with the intention of developing treatments and diagnostics that lead to improved long-term outcomes for patients. BEAT-PCD activities are supported by EU funded COST Action (BM1407). The second BEAT-PCD conference, and third PCD training school were held jointly in April 2017 in Valencia, Spain. Presentations and w…

0301 basic medicineChronic rhinosinusitiseducationMEDLINElcsh:Medicine610 Medicine & healthMeeting ReportGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineMultidisciplinary approach360 Social problems & social servicesmedicineotorhinolaryngologic diseasesCost actionlcsh:Science610 Medicine & healthPrimary ciliary dyskinesiaMedical educationbusiness.industrylcsh:RGeneral Medicinemedicine.diseaseClinical trial030104 developmental biology030228 respiratory systemLung diseaseMalaltieslcsh:QWorking groupbusiness360 Social problems & social services
researchProduct

Study of interaction of antimutagenic 1,4-dihydropyridine AV-153-Na with DNA-damaging molecules and its impact on DNA repair activity

2018

Background1,4-dihydropyridines (1,4-DHP) possesses important biochemical and pharmacological properties, including antioxidant and antimutagenic activities. It was shown that the antimutagenic 1,4-dihydropyridine AV-153-Na interacts with DNA. The aim of the current study was to test the capability of the compound to scavenge peroxynitrite and hydroxyl radical, to test intracellular distribution of the compound, and to assess the ability of the compound to modify the activity of DNA repair enzymes and to protect the DNA in living cells against peroxynitrite-induced damage.MethodsPeroxynitrite decomposition was assayed by UV spectroscopy, hydroxyl radical scavenging—by EPR spectroscopy. DNA b…

0301 basic medicineCircular dichroismDNA repairDNA damageBiophysicsDNA repairlcsh:MedicineGeneral Biochemistry Genetics and Molecular Biology03 medical and health scienceschemistry.chemical_compoundAV-153-Na0302 clinical medicineFluorescence microscopeMolecular Biology14-dihydropyridineschemistry.chemical_classificationGeneral Neurosciencelcsh:RGeneral MedicineCell Biology030104 developmental biologyEnzymechemistry030220 oncology & carcinogenesisBiophysicsHydroxyl radicalGeneral Agricultural and Biological SciencesDNAPeroxynitritePeerJ
researchProduct

2018

Abstract Chronic hepatitis leads to liver fibrosis and cirrhosis. Cirrhosis is a major cause of worldwide morbidity and mortality. Macrophages play a key role in fibrosis progression and reversal. However, the signals that determine fibrogenic vs fibrolytic macrophage function remain ill defined. We studied the role of interleukin-4 receptor α (IL-4Rα), a potential central switch of macrophage polarization, in liver fibrosis progression and reversal. We demonstrate that inflammatory monocyte infiltration and liver fibrogenesis were suppressed in general IL-4Rα−/− as well as in macrophage-specific IL-4Rα−/− (IL-4RαΔLysM) mice. However, with deletion of IL-4RαΔLysM spontaneous fibrosis revers…

0301 basic medicineCirrhosisbusiness.industryMacrophage polarizationInflammationCCL4General MedicineCCL2medicine.diseaseGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences030104 developmental biologyFibrosisHepatic stellate cellCancer researchmedicineTumor necrosis factor alphamedicine.symptombusinessEBioMedicine
researchProduct

Exercise Biomechanics and Physiology.

2021

Biomechanics was defined by Hatze in 1974 as the study of the movement of living things using the science of mechanics [...]

0301 basic medicineCognitive scienceEngineeringbusiness.industryBiomechanicsPaleontology030229 sport sciencesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesEditorialn/a030104 developmental biology0302 clinical medicineSpace and Planetary Sciencelcsh:Qlcsh:SciencebusinessEcology Evolution Behavior and SystematicsLife (Basel, Switzerland)
researchProduct

[How some commensal bacteria would exacerbate colorectal carcinogenesis?].

2016

International audience; The gut microbiota maintains a relationship with its host with strong mutual benefits. Changes in the composition of the intestinal microbiota have been detected in colorectal cancer patients to the extent that it is now considered as a real contributing factor in this pathology. In this review, we focus on three commensal bacterial species, namely Bacteroides fragilis, Fusobacterium nucleatum, and Escherichia coli, which seem to emerge as pathogens and to contribute to colorectal carcinogenesis through their inflammatory and oncogenic properties.; Le microbiote intestinal entretient une relation mutualiste forte avec l’hôte. Depuis la mise en évidence de modificatio…

0301 basic medicineColorectal cancer[SDV]Life Sciences [q-bio]enterotoxigenic bacteroides-fragilis[SDV.CAN]Life Sciences [q-bio]/Cancer[ SDV.MP.BAC ] Life Sciences [q-bio]/Microbiology and Parasitology/BacteriologyGut floradnamedicine.disease_causeGeneral Biochemistry Genetics and Molecular Biology[ SDV.CAN ] Life Sciences [q-bio]/CancerMicrobiology03 medical and health sciences0302 clinical medicine[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologymedicineEscherichia colimucosatumorisgenesisComputingMilieux_MISCELLANEOUSGastrointestinal tract[ SDV ] Life Sciences [q-bio]biologyfusobacterium-nucleatumHost (biology)General Medicinebiology.organism_classificationmedicine.disease[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriologymicroenvironment3. Good healthstomatognathic diseasestumorigenesis030104 developmental biologyinflammation030220 oncology & carcinogenesisgutcellsBacteroides fragilisFusobacterium nucleatumCarcinogenesiscolon-cancer[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
researchProduct

Reducing sample size in experiments with animals: historical controls and related strategies

2015

Reducing the number of animal subjects used in biomedical experiments is desirable for ethical and practical reasons. Previous reviews of the benefits of reducing sample sizes have focused on improving experimental designs and methods of statistical analysis, but reducing the size of control groups has been considered rarely. We discuss how the number of current control animals can be reduced, without loss of statistical power, by incorporating information from historical controls, i.e. subjects used as controls in similar previous experiments. Using example data from published reports, we describe how to incorporate information from historical controls under a range of assumptions that mig…

0301 basic medicineComputer scienceDesign of experimentsControl (management)Control subjects01 natural sciencesGeneral Biochemistry Genetics and Molecular BiologyStatistical power010104 statistics & probability03 medical and health sciences030104 developmental biologySample size determinationStatisticsRange (statistics)Statistical analysis0101 mathematicsGeneral Agricultural and Biological SciencesStatistical hypothesis testingBiological Reviews
researchProduct

L’adaptation optimale du mouvement humain au milieu gravitaire

2017

International audience

0301 basic medicineComputer scienceGeneral MedicineGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences030104 developmental biology0302 clinical medicine[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC][ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Humanities030217 neurology & neurosurgeryComputingMilieux_MISCELLANEOUS[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
researchProduct