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Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

Journal of Genetics and Genomics 2018年第1期45卷 41-45页

作者： sebastia franch-exposito Clara Esteban-Jurado Pilar Garre Isabel Quintanilla Saray Duran-Sanchon Marcos Diaz-Gay Laia Bonjoch Miriam Cuatrecasas Esther Samper Jenifer Munoz Teresa Ocana Sabela Carballal Maria Lopez-Ceron Antoni Castells Maria Vila-Casadesus Sophia Derdak Steven Laurie Sergi Beltran Jaime carvajal Luis Bujanda Clara Ruiz-Ponte Jordi Camps Meritxell Gironella Juan Jose Lozano Francesc Balaguer Joaquin Cubiella Trinidad Caldes Sergi Castellvi-Bel Gastroenterology Department Hospital Clinic de Barcelona August Pi i Sunyer Biomedical Research Institute CIBER of Hepatic and Digestive Diseases University of Barcelona Barcelona 08036 Spain Molecular Oncology Laboratory Hospital Clinico San Carlos Health Research Institute of the Hospital Clinico San Carlos Madrid 28040 Spain Department of Pathology Hospital Clinic de Barcelona Barcelona 08036 Spain EPICOLON consortium Bioinformatics Platform CIBER of Hepatic and Digestive Diseases Barcelona 08036 Spain National Center of Genomic Analysis Science Park of Barcelona Barcelona 08028 Spain Andalusian Developmental Biology Institute CSIC-Pablo de Olavide University-Andalusian Regional Government SeviUa 41013 Spain Gastroenterology Department Hospital Donostia-Biodonostia Institute CIBER of Hepatic and Digestive Diseases University of the Basque Country (UPV/EHU) San Sebastian 20080 Spain Galician Public Foundation of Genomic Medicine (FPGMX) CIBER of Rare Diseases Genomics Medicine Group Hospital Clinico Universitario University of Santiago de Compostela Santiago de Cornpostela 15706 Spain Castroenterology Department Complexo Hospitalario Universitario de Ourense Ourense Biomedical Research Institute Ourense 32005 Spain

Colorectal cancer （CRC） is one of the most common neoplasms and an important cause of mortality worldwide （http：//globocan. ***]）. Approximately 35% of the variation in CRC susceptibility is likely due to heritable factors （Lichtenstein et al., 2000}. Genetic variations in the human genome include single nucleotide variants （SNVs）, short insertions and deletions, and larger structural variants resulting in gain or loss of genomic DNA larger than 1 kb, such as copy number variants （CNVs）. Leaving aside the importance of CNVs in sporadic tumor development, these variants can also be present in the germline DNA of healthy individuals from the general population and be considered polymorphic.

关键词： CRC TTF

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Direct ammonium oxidation to nitrogen gas (Dirammox) in Alcaligenes strain HO-1: The electrode role

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Environmental Science and Ecotechnology 2023年第3期15卷 121-127页

作者： Narcís Pous Lluis Baneras Philippe F-XCorvini Shuang-Jiang Liu sebastia Puig Laboratory of Chemical and Environmental Engineering(LEQUiA) Institute of the EnvironmentUniversity of GironaCarrer Maria Aurelia Capmany69E-17003GironaSpain Group of Environmental Microbial Ecology Institute of Aquatic EcologyUniversity of GironaC/Maria Aurelia Capmany40E-17003GironaSpain School of Life Sciences University of Applied Sciences and Arts Northwestern SwitzerlandMuttenz4132Switzerland State Key Laboratory of Microbial Resource at Institute of Microbiology Chinese Academy of SciencesBeijing100101China

It has been recently suggested that Alcaligenes use a previously unknown pathway to convert ammonium into dinitrogen gas(Dirammox)via hydroxylamine(NH2OH).This fact alone already implies a significant decrease in the aeration requirements for the process,but the process would still be dependent on external *** work studied the potential use of a polarised electrode as an electron acceptor for ammonium oxidation using the recently described Alcaligenes strain HO-1 as a model heterotrophic *** indicated that Alcaligenes strain HO-1 requires aeration for metabolism,a requirement that cannot be replaced for a polarised electrode ***,concomitant elimination of succinate and ammonium was observed when operating a previously grown Alcaligenes strain HO-1 culture in the presence of a polarised electrode and without *** usage of a polarised electrode together with aeration did not increase the succinate nor the nitrogen removal rates observed with aeration ***,current density generation was observed along a feeding batch test representing an electron share of 3%of the ammonium removed in the presence of aeration and 16%without *** tests suggested that hydroxylamine oxidation to dinitrogen gas could have a relevant role in the electron discharge onto the ***,the presence of a polarised electrode supported the metabolic functions of Alcaligenes strain HO-1 on the simultaneous oxidation of succinate and ammonium.

关键词： Bioelectrochemical systems Electroactive bacteria Microbial electrochemical technologies Nitrification Nitrogen removal

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Microbial electrochemistry for bioremediation

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Environmental Science and Ecotechnology 2020年第1期1卷 85-91页

作者： Xiaofei Wang Federico Aulenta sebastia Puig Abraham Esteve-Nunez Yujie He Yang Mu Korneel Rabaey Center for Microbial Ecology and Technology(CMET) Ghent UniversityCoupure Links 6539000GhentBelgium Centre for Advanced Process Technology for Urban Resource Recovery(CAPTURE) Ghent UniversityBelgium Water Research Institute(IRSA) National Research Council(CNR)Via Salaria Km 2930000015MonterotondoRMItaly LEQUiA.Institute of the Environment University of GironaCampus Montilivi.C/Maria Aurelia Capmany69E-17003GironaCataloniaSpain Department of Analytical Chemistry and Chemical Engineering University of AlcalaCampus UniversitarioCtra.Madrid-Barcelona Km 33.60028871Alcala de HenaresSpain State Key Laboratory of Pollution Control and Resource Reuse(SKL-PCRR) School of the EnvironmentNanjing UniversityXianlin Avenue 163Nanjing210023China Department of Applied Chemistry School of Chemistry and Materials ScienceUniversity of Science and Technology of ChinaHefeiAnhui230026China

Lack of suitable electron donors or acceptors is in many cases the key reason for pollutants to persist in the *** supplementation of electron donors or acceptors is often difficult to control and/or involves chemical additions with limited lifespan,residue formation or other adverse side *** electrochemistry has evolved very fast in the past years–this field relates to the study of electrochemical interactions between microorganisms and solid-state electron donors or *** can be supplied in such so-called bioelectrochemical systems(BESs)at low voltage to provide or extract electrons in a very precise manner.A plethora of metabolisms can be linked to electrical current now,from metals reductions to denitrification and *** this perspective,we provide an overview of the emerging applications of BES and derived technologies towards the bioremediation field and outline how this approach can be game changing.

关键词： electrochemistry precise residue

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Microbial electrosynthesis of acetate from CO_(2)in three-chamber cells with gas diffusion biocathode under moderate saline conditions

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Environmental Science and Ecotechnology 2023年第4期16卷 78-87页

作者： Paolo Dessì Claribel Buenano-Vargas Santiago Martínez-Sosa Simon Mills Anna Trego Umer ZIjaz Deepak Pant sebastia Puig Vincent O'Flaherty Pau Farras School of Biological and Chemical Sciences and Energy Research Centre Ryan InstituteUniversity of GalwayUniversity RoadH91 CF50GalwayIreland LEQUiA Institute of the EnvironmentUniversity of GironaCarrer Maria Aurelia Capmany 69E-17003GironaSpain Microbiology Department School of Natural SciencesUniversity of GalwayUniversity RoadH91 TK33GalwayIreland Infrastructure and Environment Research Division School of EngineeringUniversity of GlasgowGlasgowUnited Kingdom Separation and Conversion Technology Flemish Institute for Technological Research(VITO)Boeretang 2002400MolBelgium

The industrial adoption of microbial electrosynthesis(MES)is hindered by high overpotentials deriving from low electrolyte conductivity and inefficient cell *** this study,a mixed microbial consortium originating from an anaerobic digester operated under saline conditions(∼13 g L^(−1)NaCl)was adapted for acetate production from bicarbonate in galvanostatic(0.25 mA cm^(−2))H-type cells at 5,10,15,or 20 g L^(−1)NaCl *** acetogenic communities were successfully enriched only at 5 and 10 g L^(−1)NaCl,revealing an inhibitory threshold of about 6 g L^(−1)Na^(+).The enriched planktonic communities were then used as inoculum for 3D printed,three-chamber cells equipped with a gas diffusion *** cells were fed with CO_(2)gas and operated galvanostatically(0.25 or 1.00 mA cm^(−2)).The highest production rate of 55.4 g m^(−2) d^(−1)(0.89 g L^(−1)d^(−1)),with 82.4%Coulombic efficiency,was obtained at 5 g L^(−1)NaCl concentration and 1 mA cm^(−2)applied current,achieving an average acetate production of 44.7 kg MWh−*** electron microscopy and 16S rRNA sequencing analysis confirmed the formation of a cathodic biofilm dominated by Acetobacterium ***,three 3D printed cells were hydraulically connected in series to simulate an MES stack,achieving three-fold production rates than with the single cell at 0.25 mA cm^(−2).This confirms that three-chamber MES cells are an efficient and scalable technology for CO_(2)bio-electro recycling to acetate and that moderate saline conditions(5 g L^(−1)NaCl)can help reduce their power demand while preserving the activity of acetogens.

关键词： Acetobacterium Bioelectrochemical system Conductivity Electrochemical cell design Gas diffusion electrode

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