Search results for "sequence data"

showing 10 items of 1952 documents

Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis

2016

Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. The mutations were det…

WT wild typeDNA Mutational AnalysisMolecular Sequence Datapostzygotic mutationsMutation MissenseSWS Sturge-Weber syndromeDermatologycesioflammeagermlineBiochemistrySkin DiseasesAnimals Genetically Modifiedg-proteinDNA deoxyribonucleic acidMongolian Spotoculodermal melanocytosis[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyGeneticsAnimalsHumansddc:610Phosphorylationchoroidal melanomaMolecular BiologyAllelesZebrafishdiseaseBase SequenceNeurocutaneous Syndromessturge-weberInfantCell Biologymongolian spotPPV phakomatosis pigmentovascularisGTP-Binding Protein alpha SubunitsHEK293 CellsPhenotypeMutationGTP-Binding Protein alpha Subunits Gq-G11Original Articleuveal melanoma[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologySignal Transduction
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Complete Genome Sequence of the Enterobacter cancerogenus Bacteriophage Enc34

2012

ABSTRACT Enterobacter cancerogenus is widely distributed in nature and is generally recovered from environmental or vegetal sources. In some cases, it has also been associated with human infections. In this study, the complete genomic sequence of virulent E. cancerogenus bacteriophage Enc34 was determined. The Enc34 genome is 60,364 bp in length and contains 80 open reading frames. To our knowledge, this is the first report of a bacteriophage infecting E. cancerogenus .

Whole genome sequencingGeneticsBase SequencebiologySequence analysisMolecular Sequence DataImmunologyEnterobacterVirulenceGenome ViralSequence Analysis DNAEnterobacterbiology.organism_classificationMicrobiologyGenomeGenome AnnouncementsMicrobiologyBacteriophageOpen reading frameVirologyInsect ScienceDNA ViralBacteriophagesSequence (medicine)Journal of Virology
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Complete genome sequence of the hydrogenotrophic, methanogenic archaeon Methanoculleus bourgensis strain MS2(T), Isolated from a sewage sludge digest…

2012

ABSTRACT Methanoculleus bourgensis , of the order Methanomicrobiales , is a dominant methanogenic archaeon in many biogas-producing reactor systems fed with renewable primary products. It is capable of synthesizing methane via the hydrogenotrophic pathway utilizing hydrogen and carbon dioxide or formate as the substrates. Here we report the complete and finished genome sequence of M. bourgensis strain MS2 T , isolated from a sewage sludge digester.

Whole genome sequencingStrain (chemistry)biologyMolecular Sequence DataCarbon Dioxidebiology.organism_classificationPulp and paper industryMicrobiologyGenomeMethaneMicrobiologyGenome Announcementschemistry.chemical_compoundchemistryBiogasGenome ArchaealFormateMethanomicrobiaceaeGene Expression Regulation ArchaealMolecular BiologyMethanomicrobiaceaeMethaneSludgeHydrogenJournal of bacteriology
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Genome sequence of Lactococcus garvieae UNIUD074, isolated in Italy from a lactococcosis outbreak.

2011

Lactococcus garvieae is the etiological agent of lactococcosis disease, affecting many cultured fish species worldwide. In addition, this bacterium is currently considered a potential zoonotic microorganism since it is known to cause several opportunistic human infections. Here we present the draft genome sequence of the L. garvieae strain UNIUD074.

Whole genome sequencingbiologyBase SequenceLactococcusMolecular Sequence DataNucleic acid sequenceFish speciesOutbreakStreptococcaceaebiology.organism_classificationMicrobiologyMicrobiologyDisease OutbreaksGenome AnnouncementsFish DiseasesItalyLactococcus garvieaeOncorhynchus mykissStreptococcal InfectionsLactococcusAnimalsBase sequenceMolecular BiologyGenome BacterialJournal of bacteriology
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Wickerhamomyces sylviae f.a., sp. nov., an ascomycetous yeast species isolated from migratory birds.

2013

In the present work, we investigated the phylogenetic position and phenotypic characteristics of eight yeast isolates collected from migratory birds on the island of Ustica, Italy. A phylogenetic analysis based on the D1/D2 region of the large-subunit rRNA gene showed that all isolates clustered as a single separate lineage within the Wickerhamomyces clade. They exhibited distinct morphological and physiological characteristics and were clearly separated from their closest relatives, Wickerhamomyces lynferdii, Wickerhamomyces anomalus and Wickerhamomyces subpelliculosus, in blastn searches. On the basis of the isolation source, physiological features and molecular strain typing carried out …

Wickerhamomyces anomalusLineage (evolution)Molecular Sequence DataWickerhamomyces; Birds; YeastZoologyMinisatellite RepeatsBiologyWickerhamomyceMicrobiologyBirdsWickerhamomycesBirdPhylogeneticsBotanyRibosome SubunitsAnimalsDNA FungalMycological Typing TechniquesEcology Evolution Behavior and SystematicsPhylogenyIslandsPhylogenetic treeFungal geneticsDNAGeneral MedicineSequence Analysis DNARibosomal RNARibosome Subunits Large EukaryoticDNA FingerprintingYeastRAPDRandom Amplified Polymorphic DNA TechniqueFungalAnimal Migration; Animals; Birds; DNA Fingerprinting; DNA Fungal; Islands; Italy; Minisatellite Repeats; Molecular Sequence Data; Mycological Typing Techniques; Random Amplified Polymorphic DNA Technique; Ribosome Subunits Large Eukaryotic; Saccharomycetales; Sequence Analysis DNA; PhylogenyItalySaccharomycetalesLargeEukaryoticAnimal MigrationSequence AnalysisSettore AGR/16 - Microbiologia AgrariaInternational journal of systematic and evolutionary microbiology
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A Role for the β1-β2Loop in the Gating of 5-HT3Receptors

2005

Based on theTorpedoacetylcholine receptor structure, Unwin and colleagues (Miyazawa et al., 2003; Unwin, 2005) hypothesized that the transduction of agonist binding to channel gate opening involves a “pin-into-socket” interaction between αV46 at the tip of the extracellular β1-β2loop and the transmembrane M2 segment and M2-M3 loop. We mutated to cysteine the aligned positions in the 5-HT3Aand 5-HT3Bsubunit β1-β2loops K81 and Q70, respectively. The maximal 5-HT-activated currents in receptors containing 5-HT3A/K81C or 5-HT3B/Q70C were markedly reduced compared with wild type. Desensitization of wild-type currents involved fast and slow components. Mutant currents desensitized with only the f…

XenopusMolecular Sequence DataGatingCell Linelaw.inventionMicelawExtracellularAnimalsHumansAmino Acid SequenceReceptorIon channelAcetylcholine receptorChemistryGeneral NeuroscienceWild typeProtein Structure TertiaryRatsBiochemistryMutagenesis Site-DirectedBiophysicsFemaleReceptors Serotonin 5-HT3Ion Channel GatingTorpedoCellular/MolecularCysteineThe Journal of Neuroscience
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Assessing the root of bilaterian animals with scalable phylogenomic methods.

2009

A clear picture of animal relationships is a prerequisite to understand how the morphological and ecological diversity of animals evolved over time. Among others, the placement of the acoelomorph flatworms, Acoela and Nemertodermatida, has fundamental implications for the origin and evolution of various animal organ systems. Their position, however, has been inconsistent in phylogenetic studies using one or several genes. Furthermore, Acoela has been among the least stable taxa in recent animal phylogenomic analyses, which simultaneously examine many genes from many species, while Nemertodermatida has not been sampled in any phylogenomic study. New sequence data are presented here from org…

XenoturbellaMolecular Sequence DataZoologySequence HomologyAcoelomorphaBiologyGeneral Biochemistry Genetics and Molecular BiologyResearch articlesPhylogenomicsAnimalsAmino Acid SequenceCladePhylogenyGeneral Environmental ScienceLikelihood FunctionsGeneral Immunology and MicrobiologyBase SequenceModels GeneticComputational BiologyGeneral MedicineSequence Analysis DNATurbellariabiology.organism_classificationBiological EvolutionAcoelaNemertodermatidaEvolutionary biologyGeneral Agricultural and Biological SciencesEcdysozoaPlatyzoaProceedings. Biological sciences
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Expression of the human XPB/ERCC-3 excision repair gene-homolog in the sponge Geodia cydonium after exposure to ultraviolet radiation.

1998

Abstract The marine demosponge Geodia cydonium encodes a gene, termed GCXPB , which displays 62% identity to the human XPB/ERCC-3 gene that specifically corrects the repair defect in xeroderma pigmentosum and in Cockayne's syndrome. The cDNA was isolated and characterized the deduced aa sequence, XPB_GEOCY, with the calculated size of 91,541 Da comprises the characteristic domains found in the related helicases. Phylogenetic tree analysis revealed that the sponge sequence is grouped to the metazoan related XPB/ERCC-3 polypeptides. Northern Blot analyses have been performed with sponge samples collected at different depths, thus exposed to different intensities of UV sunlight in the field. T…

Xeroderma pigmentosumDNA ComplementaryDNA RepairUltraviolet RaysMolecular Sequence DataBiologyToxicologyRadiation ToleranceEvolution MolecularComplementary DNAGene expressionGeneticsmedicineAnimalsNorthern blotAmino Acid SequenceCloning MolecularMolecular BiologyGenePhylogenyGeneticsinduced dna-damage; xeroderma-pigmentosum; cockaynes-syndrome; alignment; biomarker; protein; stressSequence Homology Amino AcidNucleic acid sequenceDNA HelicasesHelicaseSequence Analysis DNAmedicine.diseaseMolecular biologyPoriferaUp-RegulationDNA-Binding Proteinsbiology.proteinNucleotide excision repairDNA DamageMutation research
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Distinct Clones of Yersinia pestis Caused the Black Death

2010

From AD 1347 to AD 1353, the Black Death killed tens of millions of people in Europe, leaving misery and devastation in its wake, with successive epidemics ravaging the continent until the 18th century. The etiology of this disease has remained highly controversial, ranging from claims based on genetics and the historical descriptions of symptoms that it was caused by Yersinia pestis to conclusions that it must have been caused by other pathogens. It has also been disputed whether plague had the same etiology in northern and southern Europe. Here we identified DNA and protein signatures specific for Y. pestis in human skeletons from mass graves in northern, central and southern Europe that …

Yersinia pestis[SDV]Life Sciences [q-bio]Sequence HomologyDiseaseMESH: Base SequenceMESH: Genetic Markers[SHS]Humanities and Social SciencesDisease OutbreaksInfectious Diseases/Bacterial InfectionsMESH: GenotypeGenotypeMass ScreeningBiology (General)MESH: Disease OutbreaksMESH: PhylogenyCladePhylogenyGenetics0303 health sciencesMicrobiology/Microbial Evolution and GenomicsbiologyClones; Yersinia pestis; Black DeathBacterialGenetics and Genomics/Microbial Evolution and Genomics3. Good healthEuropeEvolutionary Biology/Human EvolutionInfectious DiseasesResearch ArticleDNA BacterialGenetic MarkersGenotypeQH301-705.5Molecular Sequence DataImmunologyMESH: Yersinia pestisZoologyMolecular Biology/Molecular EvolutionPlague (disease)MESH: PlagueMESH: Sequence Homology Nucleic AcidMicrobiologyNO03 medical and health sciencesPhylogeneticsSequence Homology Nucleic AcidVirologyGeneticsHumansMESH: Mass ScreeningEpidemicsMolecular BiologyMESH: EpidemicsMass screening030304 developmental biologyPlagueEvolutionary BiologyMESH: HumansMESH: Molecular Sequence DataNucleic AcidBase Sequence030306 microbiologyGenetics and GenomicsDNARC581-607biology.organism_classificationMESH: DNA BacterialYersinia pestisBase Sequence; DNA Bacterial; Disease Outbreaks; Epidemics; Europe; Genetic Markers; Genotype; Humans; Mass Screening; Molecular Sequence Data; Phylogeny; Plague; Sequence Homology Nucleic Acid; Yersinia pestisEtiologyParasitologyMESH: EuropeImmunologic diseases. Allergy
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Acyl-homoserine lactone production is more common among plant-associated Pseudomonas spp. than among soilborne Pseudomonas spp.

2001

ABSTRACT A total of 137 soilborne and plant-associated bacterial strains belonging to different Pseudomonas species were tested for their ability to synthesize N -acyl-homoserine lactones (NAHL). Fifty-four strains synthesized NAHL. Interestingly, NAHL production appears to be more common among plant-associated than among soilborne Pseudomonas spp. Indeed, 40% of the analyzed Pseudomonas syringae strains produced NAHL which were identified most often as the short-chain NAHL, N -hexanoyl- l -homoserine lactone, N -(3-oxo-hexanoyl)-homoserine lactone, and N -(3-oxo-octanoyl)- l -homoserine lactone (no absolute correlation between genomospecies of P. syringae and their ability to produce NAHL …

[ SDV.BV ] Life Sciences [q-bio]/Vegetal BiologyMESH: Sequence Analysis DNAMESH : Molecular Sequence DataMESH: PlantsMESH: Amino Acid SequenceErwiniaMESH: Base SequenceApplied Microbiology and Biotechnologychemistry.chemical_compoundPlant MicrobiologyMESH: Plant Diseases4-ButyrolactoneChromobacteriumPseudomonas syringaeMESH : Bacterial ProteinsMESH : DNA BacterialCloning MolecularMESH: Bacterial ProteinsComputingMilieux_MISCELLANEOUSSoil Microbiology[SDV.EE]Life Sciences [q-bio]/Ecology environment0303 health sciencesMESH: Gene Expression Regulation BacterialMESH: Genetic Complementation TestEcologybiologyMESH : Amino Acid SequenceMESH : Plant DiseasesPseudomonasBacterialMESH : 4-ButyrolactonePlantsN-ACYL-HOMOSERINE LACTONE[SDV.EE] Life Sciences [q-bio]/Ecology environmentPseudomonadalesSequence AnalysisBiotechnologyPseudomonadaceaeMESH : Gene Expression Regulation BacterialDNA BacterialMESH : Cloning MolecularMESH : Soil MicrobiologyCarbon-Oxygen LyasesMolecular Sequence DataHomoserineMESH : PlantsMicrobiologyMESH: Carbon-Oxygen Lyases03 medical and health sciencesBacterial ProteinsPseudomonas[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyMESH: Cloning MolecularAmino Acid SequenceMESH : Carbon-Oxygen Lyases030304 developmental biologyPlant DiseasesMESH: Molecular Sequence DataMESH : Genetic Complementation TestBase Sequence030306 microbiologyPantoeaGenetic Complementation TestMolecularMESH: PseudomonasGene Expression Regulation BacterialSequence Analysis DNADNAbiology.organism_classificationMESH: DNA BacterialchemistryGene Expression RegulationMESH: Soil MicrobiologyMESH: 4-ButyrolactoneMESH : Base SequenceFood ScienceMESH : PseudomonasMESH : Sequence Analysis DNACloning
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