Search results for " NGS sequencing"

showing 4 items of 4 documents

Temporal dynamic of biofilms enhances the settlement of the central-1 Mediterranean reef2 builder Dendropoma cristatum (Biondi, 1859)

2021

Research on marine invertebrate settlement provides baseline knowledge for restoration technique implementation, especially for biogenic engineers with limited dispersion ability. Previously, we determined that the maturity of a biofilm strongly enhances the settlement of the vermetid reef-builder Dendropoma cristatum . In order to elucidate which biofilm features support a higher settlement of this species, we analyse the structure and composition of a marine biofilm over time, through microscopic observations, eukaryotic and prokaryotic fingerprinting analyses and 16S rDNA Illumina sequencing. The vermetid settlement temporal increase matched with the higher biofilm extent on the substrat…

Settore BIO/07 - EcologiaVermetid reefs settlement gastropod benthic ecologySettore BIO/02 - Botanica Sistematicamicroorganisms ARISA NGS sequencing Mediterranean SeaSettore BIO/19 - Microbiologia Generale
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Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

2016

Background Severe hypertriglyceridemia (HTG) may result from mutations in genes affecting the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. Objective The aim of this study was to develop a targeted next-generation sequencing panel for the molecular diagnosis of disorders characterized by severe HTG. Methods We developed a targeted customized panel for next-generation sequencing Ion Torrent Personal Genome Machine to capture the coding exons and intron/exon boundaries of 18 genes affecting the main pathways of TG synthesis and metabolism. We sequenced 11 samples of patients with severe HTG (TG>885 mg/dL–10 mmol/L): 4 positive controls in whom pathogenic mutations had pre…

AdultMale0301 basic medicineCandidate geneEndocrinology Diabetes and MetabolismDNA Mutational AnalysisNonsense mutationPanel-based NGS sequencing030204 cardiovascular system & hematologyBiologymedicine.disease_causeDNA sequencing03 medical and health sciencessymbols.namesakeExon0302 clinical medicineNutrition and DieteticInternal MedicinemedicineHumansGeneHypertriglyceridemiaSanger sequencingGeneticsMutationNutrition and DieteticsLMF1 geneNonsense mutationHigh-Throughput Nucleotide SequencingInfantMembrane ProteinsIon semiconductor sequencingMiddle AgedIon torrent PGM sequencingPhenotype030104 developmental biologyChild PreschoolsymbolsFemaleCardiology and Cardiovascular MedicineJournal of Clinical Lipidology
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A NEXT GENERATION SEQUENCING APPROACH FOR MOLECULAR DIAGNOSIS OF MONOGENIC DYSLIPIDEMIAS

Dyslipidemias Ion torrent PGM sequencing Panel-based NGS sequencing molecular diagnosis
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Temporal dynamic of biofilms enhances the settlement of the central-Mediterranean reef-builder Dendropoma cristatum (Biondi, 1859).

2021

Abstract Research on marine invertebrate settlement provides baseline knowledge for restoration technique implementation, especially for biogenic engineers with limited dispersion ability. Previously, we determined that the maturity of a biofilm strongly enhances the settlement of the vermetid reef-builder Dendropoma cristatum. To elucidate settlement-related biofilm features, here we analyse the structure and composition of marine biofilms over time, through microscopic observations, eukaryotic and prokaryotic fingerprinting analyses and 16S rDNA Illumina sequencing. The vermetid settlement temporal increase matched with the higher biofilm coverage on the substratum and the reduction of th…

Vermetid reefs Settlement Gastropod Benthic ecology Microorganisms ARISA NGS sequencing Mediterranean seaAquatic ScienceOceanographyMediterranean seaAnimalsColonizationReefIllumina dye sequencinggeographygeography.geographical_feature_categorybiologyEcologyCoral ReefsDendropomaBiofilmtechnology industry and agricultureGeneral MedicineMarine invertebratessocial sciencesbiochemical phenomena metabolism and nutritionbiology.organism_classificationPollutionInvertebratesBenthic zoneBiofilmspopulation characteristicsMarine environmental research
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