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New genes emerging for colorectal cancer predisposition

World Journal of Gastroenterology 2014年第8期20卷 1961-1971页

作者： clara Esteban-Jurado Pilar Garre Maria Vila Juan José Lozano Anna Pristoupilova Sergi Beltrán Anna Abulí Jenifer Muoz Francesc Balaguer Teresa Ocaa Antoni Castells Josep M Piqué Angel Carracedo clara ruiz-ponte Xavier Bessa Montserrat Andreu Luis Bujanda Trinidad Caldés Sergi Castellví-Bel Department of Gastroenterology Hospital ClínicCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas(CIBEREHD)Institut d’Investigacions Biomèdiques August Pi i Sunyer(IDIBAPS)University of Barcelona08036 BarcelonaCataloniaSpain Molecular Oncology Laboratory Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Bioinformatics platform Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD)08036 BarcelonaSpain Centre Nacional d’Anàlisi Genòmica (CNAG) Parc Científic de Barcelona08028 BarcelonaSpain Department of Gastroenterology Hospital del Mar-IMIM (Hospital del Mar Medical Research Centre)Pompeu Fabra University08003 BarcelonaSpain Galician Public Foundation of Genomic Medicine (FPGMX) Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)Genomics Medicine GroupHospital ClínicoSantiago de CompostelaUniversity of Santiago de Compostela15706 GaliciaSpain Center of Excellence in Genomic Medicine Research King Abdulaziz University21589 JeddahKingdom of Saudi Arabia Gastroenterology Department Hospital DonostiaNetworked Biomedical Research Centre for Hepatic and Digestive Diseases (CIBEREHD)Basque Country University20080 San SebastiánSpain

Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed *** cancer is caused by both genetic and environmental factors although 35%of the variation in CRC susceptibility involves inherited genetic *** syndromes account for about5%of the total burden of CRC,with Lynch syndrome and familial adenomatous polyposis the most common *** hereditary forms,there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic *** can be also considered as a complex disease taking into account the common diseasecommom variant hypothesis with a polygenic model of inheritance where the genetic components of common complex diseases correspond mostly to variants of low/moderate *** far,30 common,low-penetrance susceptibility variants have been identified for ***,new sequencing technologies including exomeand whole-genome sequencing have permitted to add a new approach to facilitate the identification of new genes responsible for human disease *** using whole-genome sequencing,germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition called polymerase proofreading-associated polyposis.

关键词： Colorectal neoplasm, genetic predisposition to disease Next generation sequencing Genotype-phenotype correlation Genetic variant Single nucleotide polymorphism

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

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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： WHOLE-EXOME GENE

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Prevention of hepatitis B reactivation in patients with hematologic malignancies treated with novel systemic therapies:Who and Why?

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World Journal of Gastroenterology 2024年第5期30卷 509-511页

作者： Matteo Tonnini clara Solera Horna Luca Ielasi Department of Medical and Surgical Sciences University of BolognaBologna 40138Italy Division of Internal Medicine Hepatobiliary and Immunoallergic DiseasesIRCCS Azienda Ospedaliero-Universitaria di BolognaBologna 40138Italy Infectious Disease Unit Azienda USL-IRCCS di Reggio EmiliaReggio Emilia 42123Italy Department of Internal Medicine Ospedale degli Infermi di FaenzaFaenza 48018Italy

The risk of reactivation in patients with chronic or past/resolved hepatitis B virus(HBV)infection receiving chemotherapy or immunosuppressive drugs is a wellknown *** indication of antiviral prophylaxis with nucleo(t)side analogue is given according to the risk of HBV reactivation of the prescribed *** the advent of new drugs is occurring in all the field of medicine,in the setting of hematologic malignancies the last few years have been characterized by several drug classes and innovative cellular *** novel therapies,there are few data about the rate of HBV reactivation and the decision of starting or not an antiviral prophylaxis could be ***,patients are often treated with a combination of different drugs,so evaluating the actual role of these new therapies in increasing the risk of HBV reactivation is *** results are now available,but further studies are still *** with chronic HBV infection[hepatitis B surface antigen(HBsAg)positive]are reasonably all ***/resolved HBV patients(HBsAg negative)are the actual area of uncertainty where it could be difficult choosing between prophylaxis and pre-emptive strategy.

关键词： Hepatitis B reactivation Hepatitis B virus Antiviral prophylaxis Hematologic malignancies Chimeric antigens receptor-T cell therapy Immune checkpoint inhibitors

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The effects of data aggregation on long-term projections of forest stands development

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Forest Ecosystems 2024年第3期11卷 381-389页

作者： Kobra Maleki Rasmus Astrup Nicolas Cattaneo Wilson Lara Henao clara Anton-Fernandez Norwegian Institute of Bioeconomy Research Division of Forestry and Forest ResourcesP.O.Box 115ÅsNO-1431Norway

Forest management planning often relies on Airborne Laser Scanning(ALS)-based Forest Management Inventories(FMIs)for sustainable and efficient *** the area-based(ABA)approach,these inventories estimate forest characteristics for grid cell areas(pixels),which are then usually summarized at the stand *** the ALS-based high-resolution Norwegian Forest Resource Maps(16 m×16 m pixel resolution)alongside with stand-level growth and yield models,this study explores the impact of three levels of pixel aggregation(standlevel,stand-level with species strata,and pixel-level)on projected stand *** results indicate significant differences in the projected outputs based on the aggregation ***,the most substantial difference in estimated volume occurred between stand-level and pixel-level aggregation,ranging from-301 to+253 m^(3)·ha^(-1)for single *** differences were,on average,higher for broadleaves than for spruce and pine dominated stands,and for mixed stands and stands with higher variability than for pure and homogenous *** conclusion,this research underscores the critical role of input data resolution in forest planning and management,emphasizing the need for improved data collection practices to ensure sustainable forest management.

关键词： Growth and yield models Dominant species Norway spruce Scots pine Broadleaves Forest resource map Stand variability

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A simple laboratory method for the generation of mixed brominated-chlorinated paraffin single chain mixtures

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Emerging Contaminants 2024年第2期10卷 90-97页

作者： Walter Vetter clara Hägele Karin Herrmann Tobias Schulz Sina Schweizer University of Hohenheim Institute of Food Chemistry(170b)Garbenstr.2870599StuttgartGermany

Brominated-chlorinated paraffins(Br-CPs)are a comparably new compound class that features both Cl and Br atoms on one or several alkane *** to legal restrictions in the use of conventional chlorinated paraffins(CPs),Br-CPs have the potential to become emerging ***,their determination is hampered by the lack of suitable reference ***,we present a simple synthesis procedure with single chain alkanes that leads to Br-CPs with∼4–8 chlorine and 1 to 4 bromine substituents according to gas chromatography with electron capture negative ion mass spectrometry(GC/ECNI-MS).The single-chain Br-CP mixtures were obtained by the shared chlorination and bromination of eight single-chain alkanes(C10 to C17)at two reaction times,*** carbon content of the 16 single-chain Br-CP products,determined by elemental analysis(EA),ranged from 30.8 to 43.8%.The typical hump peak known from CPs was detected with GC with flame ionization detection(GC/FID),electron capture detection(GC/ECD)and GC/*** complexity indicated that low-resolution mass spectrometry is not sufficient for an adequate analysis of Br-CPs.A mathematical formula was developed which allows to calculate all possible combinations of Br and Cl that are in line with the carbon *** proton magnetic resonance spectroscopy(1H NMR)spectra showed similarities to the ones of CPs with one chemical shift range for protons on nonhalogenated carbons and one for protons with one halogen on the same carbon.

关键词： NMR) mixtures alkanes

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Intelligent Energy Utilization Analysis Using IUA-SMD Model Based Optimization Technique for Smart Metering Data

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Journal of Harbin Institute of Technology(New Series) 2024年第1期31卷 90-98页

作者： K.Rama Devi V.Srinivasan G.clara Barathi Priyadharshini J.Gokulapriya Department of Information Technology Panimalar Engineering CollegeChennaiTamil Nadu 600029India Department of Computer Applications Dayananda Sagar College of EngineeringBengaluru 560078KarnatakaIndia Department of Computer Appliations Karpagam Academy of Higher EducationCoimbatoreTamil Nadu 641021India Department of Computer Science Rathinam College of Arts and ScienceCoimbatoreTamil Nadu 641021India

Smart metering has gained considerable attention as a research focus due to its reliability and energy-efficient nature compared to traditional electromechanical metering systems. Existing methods primarily focus on data management,rather than emphasizing efficiency. Accurate prediction of electricity consumption is crucial for enabling intelligent grid operations,including resource planning and demandsupply balancing. Smart metering solutions offer users the benefits of effectively interpreting their energy utilization and optimizing costs. Motivated by this,this paper presents an Intelligent Energy Utilization Analysis using Smart Metering Data(IUA-SMD)model to determine energy consumption patterns. The proposed IUA-SMD model comprises three major processes:data Pre-processing,feature extraction,and classification,with parameter optimization. We employ the extreme learning machine(ELM)based classification approach within the IUA-SMD model to derive optimal energy utilization labels. Additionally,we apply the shell game optimization(SGO)algorithm to enhance the classification efficiency of the ELM by optimizing its parameters. The effectiveness of the IUA-SMD model is evaluated using an extensive dataset of smart metering data,and the results are analyzed in terms of accuracy and mean square error(MSE). The proposed model demonstrates superior performance,achieving a maximum accuracy of65.917% and a minimum MSE of0.096. These results highlight the potential of the IUA-SMD model for enabling efficient energy utilization through intelligent analysis of smart metering data.

关键词： electricity consumption predictive model data analytics smart metering machine learning

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Assessment of groundwater quantity, quality, and associated health risk of the Tano river basin, Ghana

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Acta Geochimica 2024年第2期43卷 325-353页

作者： Adwoba Kua-Manza Edjah Bruce Banoeng-Yakubo Anthony Ewusi Enoch Sakyi-Yeboah David Saka clara Turetta Giulio Cozzi David Atta-Peters Larry Pax Chegbeleh Water Resources Research Centre Ghana Atomic Energy CommissionAccraGhana Earth Science Department University of GhanaLegonAccraGhana Geological Engineering Department University of Mines and TechnologyTarkwaGhana Department of Statistics University of GhanaAccraLegonGhana Institute of Polar Sciences National Research Council of ItalyVeniceItaly

In the Tano River Basin,groundwater serves as a crucial resource;however,its quantity and quality with regard to trace elements and microbiological loadings remain poorly understood due to the lack of groundwater logs and limited water *** study presents a comprehensive analysis of the Tano River Basin,focusing on three key ***,it investigated the aquifer hydraulic parameters and the results showed signiﬁcant spatial variations in borehole depths,yields,transmissivity,hydraulic conductivity,and speciﬁc *** boreholes were concentrated in the northeastern and southeastern zones,while geological formations,particu-larly the Apollonian Formation,exhibit a strong inﬂuence on borehole *** study identiﬁed areas with high transmissivity and hydraulic conductivity in the southern and eastern regions,suggesting good groundwater avail-ability and suitability for sustainable water ***-ondly,the research investigated the groundwater quality and observed that the majority of borehole samples fall within WHO(Guidelines for Drinking-water Quality,Environmental Health Criteria,Geneva,2011,***://***)***,some samples have pH levels below the standards,although the groundwater generally qualiﬁes as *** study further explores hydrochemical facies and health risk assessment,highlighting the dominance of Ca–HCO3 water *** element analysis reveals minimal health risks from most elements,with chromium(Cr)as the primary contributor to chronic health ***,this study has provided a key insights into the Tano River Basin’s hydrogeology and associated health *** outcome of this research has contributed to the broader understanding of hydrogeologi-cal dynamics and the importance of managing groundwater resources sustainably in complex geological environments.

关键词： Groundwater Unsupervised machine learning technique Hydrochemistry Aquifer hydraulic parameter Health risk

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The TELOMERE REPEAT BINDING proteins TRB4 and TRB5 function as transcriptional activators of PRC2-controlled genes to regulate plant development

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Plant Communications 2024年第7期5卷 178-199页

作者： Simon Amiard Léa Feit Emmanuel Vanrobays Lauriane Simon Samuel Le Goff Loriane Loizeau Léa Wolff Falk Butter clara Bourbousse Fredy Barneche Christophe Tatout Aline V.Probst iGReD CNRSInsermUniversite´Clermont Auvergne63000 Clermont-FerrandFrance Institut de biologie de I’Ecole normale supe´rieure(IBENS) Ecole normale supe´rieureCNRSINSERMUniversite´PSLParisFrance Institute of Molecular Biology 55128 MainzGermany

Plant-specific transcriptional regulators called TELOMERE REPEAT BINDING proteins(TRBs)combine two DNA-binding domains,the GH1 domain,which binds to linker DNA and is shared with H1 histones,and the Myb/SANT domain,which specifically recognizes the telobox DNA-binding site ***1,TRB2,and TRB3 proteins recruit Polycomb group complex 2(PRC2)to deposit H3K27me3 and JMJ14 to remove H3K4me3 at gene promoters containing telobox motifs to repress ***,we demonstrate that TRB4 and TRB5,two related paralogs belonging to a separate TRB clade conserved in spermatophytes,regulate the transcription of several hundred genes involved in developmental responses to environmental ***4 binds to several thousand sites in the genome,mainly at transcription start sites and promoter regions of transcriptionally active and H3K4me3-marked genes,but,unlike TRB1,it is not enriched at H3K27me3-marked gene ***,TRB4 can physically interact with the catalytic components of PRC2,SWINGER,and CURLY LEAF(CLF).Unexpectedly,we show that TRB4 and TRB5 are required for distinctive phenotypic traits observed in clf mutant plants and thus function as transcriptional activators of several hundred CLF-controlled genes,including key flowering *** further demonstrate that TRB4 shares multiple target genes with TRB1 and physically and genetically interacts with members of both TRB ***,these results reveal that TRB proteins engage in both positive and negative interactions with other members of the family to regulate plant development through both PRC2-dependent and-independent mechanisms.

关键词： chromatin TRB proteins transcriptional regulation PRC2 plant development

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Variations in Soil Organic Matter Content in Cultivated and Uncultivated Calcareous Soils from the Mediterranean Island of Malta after 15 Years of Cultivation

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Open Journal of Soil Science 2024年第4期14卷 210-226页

作者： Anthony T. Sacco Marcelle Agius clara Didier Institute of Earth Systems Division of Rural Sciences and Food Systems University of Malta Msida Malta É cole Nationale Sup&#233rieure Agronomique de Toulouse Auzeville-Tolosane France

The soils of Malta are calcareous and generally undeveloped. Organic matter (OM) in these soils is low and farmers are constantly urged to increase it. The objective of this study was to evaluate any temporal variation in soil OM after 15 years of cultivation, and determine whether soil series, soil depth, and cultivation influence variation. OM was determined in the topsoil and subsoil of 7 agricultural and 4 non-agricultural sites. The sites represented 7 different soil series that are present on the island. In sampling periods 1 (t = 0 years) and 2 (t =15 years), the OM content in the collective (all soil series) bulk (topsoil and subsoil) uncultivated soil was 3.9 % and 3.8 % respectively. This was significantly greater than that of the collective bulk cultivated soil (2.4% and 2.3%). The OM in the collective uncultivated topsoil was 5.4% and 5.2% in periods 1 and 2 and was significantly higher than that of the cultivated topsoil (2.5% in both periods). The OM content in the collective uncultivated subsoil was 2.3% and 2.5% in periods 1 and 2 respectively but only that measured in period 2 was significantly higher than that of the cultivated subsoil (2.2% in both periods). On an individual soil series basis, the OM in the uncultivated topsoils was significantly higher than that of their cultivated counterparts. The differences in the subsoils were not significant. Across the uncultivated soil series, OM was significantly higher in the topsoil than in the subsoil but in the cultivated soil series the differences between topsoil and subsoil were not significant. There was no significant difference in OM between the uncultivated soils of different series, but in the cultivated the OM content was higher in soils that were more mature. After 15 years, no significant change in OM occurred in both the collective cultivated and uncultivated bulk soils, the collective topsoil and subsoil, and in most of the individual series. The OM content of each soil series was also s

关键词： Soil Organic Carbon Agricultural Land Non-Agricultural Land Land Management

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Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma

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World Journal of Pediatrics 2024年第5期20卷 481-495页

作者： Dimitra E.Zazara Olympia Giannou Steven Schepanski Mirja Pagenkemper Anastasios D.Giannou Maike Pincus Ioannis Belios Stefan Bonn Ania C.Muntau Kurt Hecher Anke Diemert Petra clara Arck Division for Experimental Feto-Maternal Medicine Department of Obstetrics and Fetal MedicineUniversity Medical Center Hamburg-Eppendorf(UKE)Martinistraße 5220251HamburgGermany University Children’s Hospital UKEHamburgGermany Computer Engineering and Informatics Department Polytechnic SchoolUniversity of PatrasPatrasGreece Institute of Developmental Neurophysiology Center for Molecular Neurobiology Hamburg(ZMNH)UKEHamburgGermany Department of Obstetrics and Fetal Medicine UKEHamburgGermany Department of General Visceral and Thoracic SurgeryUKEHamburgGermany Section of Molecular Immunology and Gastroenterology Ⅰ.Department of MedicineUKEHamburgGermany Pediatrics and Pediatric Pneumology Practice BerlinGermany Institute of Medical Systems Biology ZMNHUKEHamburgGermany Hamburg Center for Translational Immunology UKEHamburgGermany

Background Early-life respiratory infections and asthma are major health burdens during *** predicting an increased risk for early-life respiratory diseases are ***,we identified the predictive value of ultrasound-monitored fetal lung growth for the risk of early-life respiratory infections and *** Fetal lung size was serially assessed at standardized time points by transabdominal ultrasound in pregnant women participating in a pregnancy *** between fetal lung growth and respiratory infections in infancy or early-onset asthma at five years were ***-learning models relying on extreme gradient boosting regressor or classifier algorithms were developed to predict respiratory infection or asthma risk based on fetal lung *** model development and validation,study participants were randomly divided into a training and a testing group,respectively,by the employed *** Enhanced fetal lung growth throughout pregnancy predicted a lower early-life respiratory infection *** sex was associated with a higher risk for respiratory infections in *** lung growth could also predict the risk of asthma at five years of *** designed three machine-learning models to predict the risk and number of infections in infancy as well as the risk of early-onset *** models’R2 values were 0.92,0.90 and 0.93,respectively,underscoring a high accuracy and agreement between the actual and predicted *** variables included known risk factors and novel predictors,such as ultrasound-monitored fetal lung *** Sonographic monitoring of fetal lung growth allows to predict the risk for early-life respiratory infections and asthma.

关键词： Asthma Child risk Early-life respiratory infections Prenatal lung development Sexual dimorphism

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