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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： CRC TTF

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The influence of elevation on soil properties and forest litter in the Siliceous Moncayo Massif,SW Europe

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Journal of Mountain Science 2016年第12期13卷 2155-2169页

作者： BADIA David ruiz Alberto GIRONA Antonio MARTI clara CASANOVA Jose IBARRA Paloma ZUFIAURRE Raquel Department of Agricultural and Environmental Sciences Technic School of Agricultural Engineering and Environmental SciencesUniversidad de Zaragoza Department of Geography and Land Management University of Zaragoza Department of Analytical Chemistry Technic School of Agricultural Engineering and Environmental SciencesUniversity of Zaragoza

Understanding the effects of elevation and related factors(climate,vegetation) on the physical and chemical soil properties can help to predict changes in response to future climate or afforestation *** work aims to contribute to the knowledge of soil evolution and the classification of forest soils in relation to elevation in the montane stage,with special attention to podzolization and humus *** northern flank of the Moncayo Massif(Iberian Range,SW Europe) provides a unique opportunity to study a forest soils catena within a consistent quartzitic parent material over a relatively steep elevation *** increasing elevation,pH,base saturation,exchangeable potassium,and fine silt-sized particles decrease significantly,while organic matter,the C/N ratio,soil aggregate stability,water repellency and coarse sand-sized particles increase *** soil profiles shared a set of properties in all horizons:loamy-skeletal particle-size,extreme acidity(pH-H_2O<5.6) and low base saturation(<50%).The most prevalent soil forming processes in the catena include topsoil organic matter accumulation and even podzolization,which increases with *** the upper to lower landscape positions of wooded montane stage of the Moncayo Massif,mull-moder-mor humus and an UmbrisolCambisol-Podzol soil unit sequences were found.

关键词： Montane stage Forest soils Catena Humus forms Podzolization Siliceous Moncayo Massif

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Coal petrology analysis and implications in depositional environments from upper Cretaceous to Miocene:a study case in the Eastern Cordillera of Colombia

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International Journal of Coal Science & Technology 2021年第5期8卷 869-896页

作者： clara Guatame Marco Rincon Servicio Geologico Colombiano diagonal 53 n.°34-53BogotaColombia

The Piedemonte Llanero Basin is located on the eastern side of the Eastern Cordillera of the Colombian *** has been the subject of numerous geological studies carried out for the oil sector,*** study presents the coalpetrographical features of 15 coal seams of four geological formations from Late Cretaceous to Middle Miocene(Chipaque formation,Palmichal group,Arcillas del Limbo formation,and San Fernando formation).Analysis of 33 samples indicates enrichment in vitrinite,while liptinite and inertinite concentrations vary according to the stratigraphic *** indicates that the coal range gradually decreases from highly volatile bituminous C(Chipaque formation)to subbituminous C(San Fernando formation).The microlithotypes with the highest concentrations are clarite and *** composition and coal facies indicate changes in the depositional conditions of the *** precursor peat from Late Cretaceous to Late Paleocene accumulated under limnic conditions followed by telmatic in Late Eocene-Early *** coal facies indices show wet conditions in forest swamps with variations in the flooding surface,influxes of brackish water and good tissue *** tectonic conditions along the Piedemonte Llanero basin is evident,from post-rift to foreland basin,evidenced by oxic and anoxic periods reflected in the maceral composition and its *** coal environment corresponds to an estuarine system started in the Chipaque formation evolving to the lacustrine conditions in the San Fernando formation.

关键词： Eastern cordillera basin Northern Andes Coal Organic petrology

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Model Identification and Control of Electromagnetic Actuation in Continuous Casting Process With Improved Quality

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IEEE/CAA Journal of Automatica Sinica 2023年第1期10卷 203-215页

作者： Isabela Birs Cristina Muresan Dana Copot clara Ionescu Research Group of Dynamical Systems and Control Faculty of Engineering and ArchitectureGhent University and with EEDT Decision&ControlFlanders Make ConsortiumTech Lane Science Park 125 and 131B-9052 GhentBelgium.I.Birs the Automation Department Faculty of Automation and Applied InformaticsTechnical University of Cluj-NapocaRomania IEEE

This paper presents an original theoretical framework to model steel material properties in continuous casting line process. Specific properties arising from non-Newtonian dynamics are herein used to indicate the natural convergence of distributed parameter systems to fractional order transfer function models. Data driven identification from a real continuous casting line is used to identify model of the electromagnetic actuator device to control flow velocity of liquid steel. To ensure product specifications, a fractional order control is designed and validated on the system. A projection of the closed loop performance onto the quality assessment at end production line is also given in this paper.

关键词： Electromagnetic actuator fractional order control fractional order system model non-Newtonian material

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A Dynamic Signaling Path to Chromatin-Level Control of Plant Drought Response

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Molecular Plant 2019年第3期12卷 292-294页

作者： clara Bourbousse Fredy Barneche Institutde Biologie de I'Ecole Normale Superieure(IBENS) Ecole Normale SuperieureCNRSINSERMPSL University75005 ParisFrance

As sessile organisms, plants display a high capacity for phenotypic adaptations allowing them to meet the constraints of a changing local environment. This plasticity notably originates from the aptitude of plants to adjust their development and physiology throughout their lifetime to reach an optimal trade-off between growth and fitness. As in all eukaryotes, dynamic control of plant gene expression in different cell types is dependent on multiple regulatory layers that often converge onto chromatin-based mechanisms. Dynamic control of chromatin composition and organization has a strong impact on the cellular transcriptional program, notably contributing to selective modulation of gene expression in a reversible manner. Chromatin state changes generally involve remodeling of nu cleosome positio ning, incorporatio n of nu cleosomal and lin ker histone variants, and DNA and histone modifications recognized by cognate readers. Together, these processes modulate the access and activity of trans-acting factors such as transcription factors and RNA polymerases. Temporary shifts between transcriptionally permissive and repressive chromatin states rely on various mechanisms, among which is the rapid reversion of a “responsive” chromatin status through active erasure of newly established features.

关键词： Dynamic Signaling Path Chromatin-Level Control

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A 15-year-Long catalog of seismicity in the Eastern Tennessee Seismic Zone(ETSZ)using matched filter detection

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Earthquake Research Advances 2023年第1期3卷 92-105页

作者： clara Daniels Zhigang Peng School of Earth and Atmospheric Sciences Georgia Institute of TechnologyAtlanta311 Ferst DrAtlantaGA30318USA Applied Research Associates BurlingtonMAUSA

We present a detailed catalog of 13671 earthquakes in the Eastern Tennessee Seismic Zone(ETSZ)that spans January 1,2005 to July 31,*** apply a matched filter detection technique on over 15 years of continuous data,resulting in arguably the most complete catalog of seismicity in the ETSZ *** magnitudes of newly detected events are determined by computing the amplitude ratio between the detections and templates using a principal component *** also compute the b-value for the new catalog and comparatively relocate a subset of newly detected events using XCORLOC and hypoDD,which shows a more defined structure at *** find the greatest concentration along and to the east of the New York-Alabama Lineament,as defined by the magnetic anomaly,supporting the argument that this feature likely is related to the generation of seismicity in the *** examine seismicity in the vicinity of the Watts Bar Reservoir,which is located about 5 km from the epicenter of the M_(W) 4.4 December 12,2018 Decatur,Tennessee earthquake,and find possible evidence for reservoir modulated seismicity in this *** also examine seismicity in the entire ETSZ to search for a correlation between shallow earthquakes and seasonal hydrologic *** results show limited evidence for hydrologicallydriven shallow seismicity due to seasonal groundwater levels in the ETSZ,which contradicts previous studies hypothesizing that most intraplate earthquakes are associated with the dynamics of hydrologic cycles.

关键词： Eastern Tennessee Seismic Zone Matched filter detection Intraplate earthquakes Reservoir modulated seismicity

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Comparison of transient and stable expression of foot-and-mouth disease virus capsid proteins in mammalian cells

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Advances in Bioscience and Biotechnology 2013年第12期4卷 1024-1029页

作者： Ana clara Mignaqui Vanesa ruiz Andrés Wigdorovitz Instituto de Virología Instituto Nacional de Tecnología Agropecuaria Hurlingham Argentina

Foot-and-mouth disease is a highly contagious disease that produces severe economic losses in the livestock industry. This disease is being controlled by the use of an inactivated vaccine. However, the use of recombinant empty capsids as a subunit vaccine has been reported to be a promising candidate because it avoids the use of virus in the vaccine production. A plasmid containing the capsid precursor P12A and protease 3C sequences of foot-and-mouth disease virus (FMDV) was constructed and used to compare transient and stable expression in mammalian cells. When BHK-21 cells were transfected with the recombinant vector, protease 3C cleaved the capsid precursor P12A into the structural proteins VP0, VP1 and VP3. A sucrose gradient demonstrated that the structural proteins assembled into different subviral particles. Attempts to generate a stable cell line only allowed isolating low-level-expressing clones, probably due to the effect of protease 3C on the cells. Moreover, the recombinant protein yield achieved in transient expression assays was much higher than the one achieved in stable expression assays. Results indicate that mammalian cells are a good strategy to produce recombinant FMDV subviral particles. However, the alternative approach of transient gene expression in scalable systems should be used instead of the standard method that involves the generation of a stable cell line.

关键词： Empty Capsids Foot and Mouth Disease Virus Mammalian Cells Stable Expression Transient Ex-pression

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Gastric cancer research in Mexico:A public health priority

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World Journal of Gastroenterology 2014年第16期20卷 4491-4502页

作者： clara Luz Sampieri Mauricio Mora Instituto de Salud Pública Universidad VeracruzanaAv. Luis Castelazo AyalaCol. Industrial ánimas91190 XalapaVeracruzMéxico Facultad de Medicina Universidad Veracruzana.Médicos y OdontólogosCol. Virginia Cordero91120 XalapaVeracruzMéxico

This study aimed review studies conducted on Mexican patients diagnosed with gastric cancer and/or diseases associated with its development,in which at least one Mexican institute has participated,and to assess their contributions to the primary and secondary prevention of this disease.A search of the Medline database was conducted using the following keywords:gastric/stomach cancer,*** of the Mexican population were selected in which at least one Mexican Institute had participated and where the findings could support public policy proposals directed towards the primary or secondary prevention of gastric *** the148 studies found in the Medline database,100 were discarded and 48 were *** to the analysis presented,these studies were classified as:epidemiology of gastric cancer(5/48);risk factors and protectors relating to gastric cancer(9/48);relationship between Helicobacter pylori and pathologies associated with gastric cancer and the development of the disease(16/48);relationship between the Epstein-Barr virus and pathologies associated with gastric cancer and the development of the disease(3/48);molecular markers for the development of diseases associated with gastric cancer and gastric cancer(15/48).Mexico requires a program for the prevention and control of gastric cancer based on national health *** should be produced by a multidisciplinary committee of experts who can propose actions that are relevant in the current national *** few studies of gastric cancer conducted on the Mexican population in national institutes highlight the poor connection that currently exists between the scientific community and the health sector in terms of resolving this health *** policies for health research should support projects with findings that can be translated into benefits for the *** review serves to identify national research groups studying gastric cancer in the Mexican population.

关键词： Gastric cancer Mexico Research Prevention Public health

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Invasive strategy in elderly patients with acute coronary syndrome in 2018: close to the truth?

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Journal of Geriatric Cardiology 2019年第2期16卷 114-120页

作者： Sergio García-Blas clara Bonanad Juan Sanchis Servei de Cardiologia Hospital Clínic Universitari de València INCLIVA Universitat de ValènciaCIBERCV

Elderly population constitutes an increasingly larger proportion of patients admitted for acute coronary syndromes(ACS).The optimal management of ACS in these patients is still a challenge due to their clinical peculiarities and the paucity of specific data,and they have been traditionally managed more conservatively mainly based on subjective *** ST^segment elevation acute myocardial infarction urgent reperfusion is the standard of care and there is no upper age *** non-ST segment elevation acute myocardial infarction evidence is controversial,incomplete and mainly focused on chronological *** a strict conservative strategy should be avoided,routine invasive strategy may reduce the occurrence of myocardial infarction and need for revascularization at follow-up with no established benefit in terms of *** characteristics associated with aging,such as comorbidities and frailty,further discriminate patient's risk beyond *** is scarce,but it suggests that these features may modulate the benefit of invasive strategy in this *** trials should clarify the optimal management of ACS based on these parameters.

关键词： Acute coronary syndromes Comorbidity Frailty Percutaneous coronary intervention The elderly

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