Search results for "probe"

showing 10 items of 534 documents

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominan…

2017

Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. Results A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one …

0301 basic medicineUsher syndromeNonsense mutationnext‐generation sequencingBiologyGene mutationBioinformatics03 medical and health sciencessymbols.namesakeRetinitis pigmentosaGeneticsmedicineotorhinolaryngologic diseasesMultiplex ligation-dependent probe amplificationNonsyndromic deafnessMolecular BiologyGenetics (clinical)Sanger sequencingGeneticsHeimler syndromeCopy number variationPoint mutationOriginal Articlesmedicine.diseaseeye diseases030104 developmental biologysymbolsphenocopiestranslational read‐throughOriginal ArticleUsher syndromeMolecular Genetics & Genomic Medicine
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Topographical geometric factors governing the biological activities of methomyl derivatives on binding receptors of maize mitochondria

1986

Abstract The topographical study of the binding receptors of T and N mitochondria was undertaken with methomyl derivatives acting as molecular probes. The two biological activities related to topography and geometric isomerism are distinguishable from the receptor sites of T and N mitochondria.

0303 health sciences010405 organic chemistry[SDV]Life Sciences [q-bio]030302 biochemistry & molecular biologyOrganic ChemistryMethomylMitochondrion01 natural sciencesBiochemistry0104 chemical sciences[SDV] Life Sciences [q-bio]03 medical and health scienceschemistry.chemical_compoundchemistryBiochemistryDrug DiscoveryReceptorMolecular probeMolecular BiologyCis–trans isomerismComputingMilieux_MISCELLANEOUS
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2015

Molecular clock analyses estimate that crown-group animals began diversifying hundreds of millions of years before the start of the Cambrian period. However, the fossil record has not yielded unequivocal evidence for animals during this interval. Some of the most promising candidates for Precambrian animals occur in the Weng'an biota of South China, including a suite of tubular fossils assigned to Sinocyclocyclicus , Ramitubus , Crassitubus and Quadratitubus , that have been interpreted as soft-bodied eumetazoans comparable to tabulate corals. Here, we present new insights into the anatomy, original composition and phylogenetic affinities of these taxa based on data from synchrotron radiat…

0303 health sciencesFossil RecordElectron probe microanalysisGeneral Immunology and MicrobiologyPhylogenetic treeBiotaGeneral MedicineBiology010502 geochemistry & geophysics01 natural sciencesAffinitiesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesPrecambrianPaleontologyPeriod (geology)General Agricultural and Biological SciencesMolecular clock030304 developmental biology0105 earth and related environmental sciencesGeneral Environmental ScienceProceedings of the Royal Society B: Biological Sciences
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The influence of tin compounds on the dynamic properties of liposome membranes: A study using the ESR method

2005

AbstractThe influence of organic and inorganic compounds of tin on the dynamic properties of liposome membranes obtained in the process of dipalmitoylphosphatidylcholine (DPPC) sonication in distilled water was investigated. This was carried out by means of the spin ESR probe method. The probes were selected in such a way as to penetrate different areas of the membrane (a TEMPO probe, 5-DOXYL stearic acid, 16-DOXYL stearic acid). Four compounds of tin were chosen: three organic ones, (CH3)4Sn, (C2H5)4Sn and (C3H7)3SnCl, and one inorganic one, SnCl2. The investigated compounds were added to a liposome dispersion, which was prepared prior to that. The concentration of the admixture was change…

12-DipalmitoylphosphatidylcholineShort CommunicationSonicationTin compoundsInorganic chemistrychemistry.chemical_elementDPPC liposomesBiochemistrychemistry.chemical_compoundOrganometallic CompoundsMolecular BiologyESRchemistry.chemical_classificationLiposomeElectron Spin Resonance SpectroscopyMembranes ArtificialCell Biologyequipment and suppliesMembraneHydrocarbonchemistryBiochemistryDistilled waterMolecular ProbesDipalmitoylphosphatidylcholineLiposomesSpin LabelsStearic acidTinCellular and Molecular Biology Letters
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Design of new sensitive α,β-unsaturated carbonyl 1,8-naphtalimide fluorescent probes for thiol bioimaging

2017

International audience; We report herein an efficient synthesis of news naphtalimide-based fluorescent derivatives functionalized with an a,(3-unsaturated carbonyl group. Probes were synthesized from reaction of an amino-naphtalimide precursor with maleic anhydride. Photophysical study of fluorescent probes and cells labelling were performed, and showed that the reactive derivatives exhibit rich turn on fluorescence properties in presence of different biological thiol (Glutathione and Cysteine) making these systems a very promising way for thiol bioimaging.

1Biological thiolsThiol probes010402 general chemistryPhotochemistry01 natural sciencesTurn (biochemistry)Turn-on fluorescencechemistry.chemical_compoundMichael's additionLabelling[SDV.IDA]Life Sciences [q-bio]/Food engineeringMaterials ChemistryElectrical and Electronic EngineeringHomocysteineInstrumentationchemistry.chemical_classification010405 organic chemistry[ SDV.IDA ] Life Sciences [q-bio]/Food engineeringMetals and AlloysMaleic anhydrideGlutathioneKetonesCondensed Matter PhysicsBioimagingGlutathioneCarbonyl groupCombinatorial chemistryFluorescence4-addition0104 chemical sciences3. Good healthSurfaces Coatings and FilmsElectronic Optical and Magnetic MaterialschemistryThiolCysteineSensors and Actuators B: Chemical
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Safety and immunomodulatory effects of three probiotic strains isolated from the feces of breast-fed infants in healthy adults: SETOPROB study.

2013

We previously described the isolation and characterization of three probiotic strains from the feces of exclusively breast-fed newborn infants: Lactobacillus paracasei CNCM I-4034, Bifidobacterium breve CNCM I-4035 and Lactobacillus rhamnosus CNCM I-4036. These strains were shown to adhere to intestinal mucus in vitro, to be sensitive to antibiotics and to resist biliary salts and low pH. In the present study, a multicenter, randomized, double-blind, placebo-controlled trial with 100 healthy volunteers in three Spanish cities was carried out to evaluate the tolerance, safety, gut colonization and immunomodulatory effects of these three probiotics. Volunteers underwent a 15-day washout perio…

ARN Bacterianoved/biology.organism_classification_rank.speciesPhysiologylcsh:Medicine:Phenomena and Processes::Biological Phenomena::Ecological and Environmental Phenomena::Environment::Ecosystem::Biodiversity::Biota::Microbiota [Medical Subject Headings]law.inventionFecesProbioticAntibioticslawLactobacillus:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Child Nutritional Physiological Phenomena::Infant Nutritional Physiological Phenomena::Breast Feeding [Medical Subject Headings]lcsh:Science:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleic Acids::RNA::RNA Bacterial [Medical Subject Headings]BifidobacteriumMultidisciplinaryBifidobacterium brevebiologyLacticaseibacillus rhamnosusMicrobiotaHibridación in SituInterleukin-10:Organisms::Bacteria::Gram-Positive Bacteria::Lactobacillales::Lactobacillaceae::Lactobacillus [Medical Subject Headings]Breast FeedingBloodCytokinesFemaleResearch ArticleAdult:Anatomy::Fluids and Secretions::Feces [Medical Subject Headings]Lactobacillus paracasei:Organisms::Bacteria::Endospore-Forming Bacteria::Gram-Positive Endospore-Forming Bacteria::Gram-Positive Endospore-Forming Rods::Clostridium::Clostridium difficile [Medical Subject Headings]Microbiology:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleic Acids::Nucleic Acid Probes::Oligonucleotide Probes [Medical Subject Headings]Double-Blind MethodLactobacillus rhamnosusHumansImmunologic Factors:Analytical Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Histocytological Preparation Techniques::Staining and Labeling::In Situ Hybridization [Medical Subject Headings]FecesSafety studiesved/biologyProbioticslcsh:RClostridium difficile:Organisms::Bacteria::Gram-Positive Bacteria::Actinobacteria::Bifidobacterium [Medical Subject Headings]biology.organism_classificationImmunoglobulin ALactobacilluslcsh:QInterleukin-4BifidobacteriumBreast feedingSondas de OligonucleótidosPLoS ONE
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Apgrūtināto teritoriju informācijas sistēmas ieviešana Latvijā

2015

Maģistra darbā „Apgrūtināto teritoriju informācijas sistēmas ieviešana Latvijā” aplūkoti Apgrūtināto teritoriju informācijas sistēmas (turpmāk - ATIS) izveidošanas un ieviešanas Latvijā tiesiskie un praktiskie aspekti, kā arī analizēta nekustamo īpašumu lietošanas tiesību apgrūtinājumu reģistrācijas kārtība pirms un pēc ATIS ieviešanas. Analīzes rezultātā identificēti problēmjautājumi un sniegts piedāvājums to risinājumam. Darbā analizēts normatīvais regulējums, kas reglamentē ATIS darbību. Veicot normatīvā regulējuma un juridiskās prakses analīzi, autore aplūkojusi arī Latvijā ar likumu noteiktos nekustamo īpašumu lietošanas tiesību aprobežojumus.

ATISapgrūtinātā teritorijanekustamā īpašuma objekta apgrūtinājumilietošanas tiesību aprobežojumiJuridiskā zinātne
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Assessment of the mechanism of elemental incorporation into bivalve shells (Arctica islandica) based on elemental distribution at the microstructural…

2014

Abstract To address the mechanism of elemental incorporation into shells of the bivalve Arctica islandica , we performed two-dimensional elemental mapping of Sr, Mg, and S at a ∼3 μm spatial resolution using electron microprobe. These elemental distributions were precisely compared to the shell microstructure. The Sr distribution was intimately linked to the S concentration and/or shell microstructure. Sr showed a clear annual pattern with higher values at the annual growth lines and lower values in annual growth increments. The Sr and S concentrations were higher near sub-annual growth lines than in the adjacent regions, which were dominated by acicular microstructure (middle shell layer) …

AcicularbiologyShell (structure)MineralogyElectron microprobebiology.organism_classificationMicrostructureAnnual growth %chemistry.chemical_compoundCalcium carbonatechemistryGeochemistry and PetrologyElemental distributionArctica islandicaGeochimica et Cosmochimica Acta
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Synthesis of novel organic-based fluorophores – Implementation to the design of fluorogenic enzyme substrates based on the principle of in situ synth…

2020

Detection and fluorescence imaging of biologic systems requires the implementation of efficient, robust and easy-to-use tools. Conventional fluorogenic probes currently used in microbiology lack efficiency since they are based on the single chemical modification of a fluorophore bearing an optically tunable reactive group, which often leads to incomplete fluorescence quenching. The main goal of my Ph.D thesis was to develop novel fluorogenic enzymatic substrates based on the "covalent assembly" principle. This approach also named "in situ synthesis" is based on the use of domino reactions to form a fluorescent moiety starting from a "caged" non-fluorescent molecule. In our case, the bioanal…

Activation enzymatique[CHIM.ORGA]Chemical Sciences/Organic chemistryHétéro-XanthènesSynthèse in situHetero-Xanthene dyesQuinoxalinonesIn situ synthesis[CHIM.ORGA] Chemical Sciences/Organic chemistryEnzymatic activationFluorogenic probesSonde fluorogéniquesFluorescence
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The autoantigen La/SS-B: Analysis of the expression of alternatively spliced La mRNA isoforms

1996

The gene for the nuclear autoantigen La/SS-B encodes two La mRNA isoforms. In order to study the function and expression of both La mRNA forms, an in situ hybridization procedure was developed allowing the selective identification of either exon 1 or exon 1'. For this purpose, digoxigenin-labeled exon-specific sense and anti-sense probes were prepared by in vitro transcription from plasmids that contained the respective exon sequence. Detection of the probes was carried out by using rhodamine-conjugated anti-digoxigenin antibody and confocal laser scanning microscopy. Both La mRNAs were found in the cytoplasm of endothelial cells but not in smooth muscle cells. In addition to the in situ te…

AdultHistologyMolecular Sequence DataGene ExpressionIn situ hybridizationBiologyAutoantigensPolymerase Chain ReactionPathology and Forensic MedicineExonExon trappingIsomerismGene expressionHumansSaphenous VeinEndotheliumRNA MessengerMammary ArteriesGeneIn Situ HybridizationMessenger RNABase SequenceExonsCell BiologyMolecular biologyAlternative SplicingLiverRibonucleoproteinsCytoplasmPrimer (molecular biology)DNA ProbesTranscription Factors
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