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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： WHOLE-EXOME GENE

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职场妈妈平衡术

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作者： (美)苏珊娜·瑞丝(Suzanne Doris) (美)特瑞莎·帕拉格诺(teresa Paragno)

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Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma

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Frontiers of Medicine 2021年第2期15卷 275-291页

作者： Na Qin Yuancheng Li Cheng Wang Meng Zhu Juncheng Dai Tongtong Hong Demetrius Albanes Stephen Lam Adonina Tardon Chu Chen Gary Goodman Stig Ebojesen Maria teresa Landi Mattias Johansson Angela risch H-Erich Wichmann Heike bickeboller Gadi rennert Susanne Arnold Paul brennan John KField Sanjay Shete Loic Le Marchand Olle Melander Hans brunnstrom Geoffrey Liu rayjean JHung Angeline Andrew Lambertus AKiemeney Shan Zienolddiny Kjell Grankvist Mikael Johansson Neil Caporaso Penella Woll Philip Lazarus Matthew bSchabath Melinda CAldrich Victoria LStevens Guangfu Jin David CChristiani Zhibin Hu Christopher IAmos Hongxia Ma Hongbing Shen Department of Epidemiology Center for Global HealthSchool of Public HealthNanjing Medical UniversityNanjing 211166China State Key Laboratory of reproductive Medicine Center for Global HealthNanjing Medical UniversityNanjing 211166China Department of bioinformatics School of Biomedical Engineering and InformaticsNanjing Medical UniversityNanjing 211166China Jiangsu Key Lab of Cancer biomarkers Prevention and TreatmentCollaborative Innovation Center for Cancer MedicineNanjing Medical UniversityNanjing 211166China China International Cooperation Center for Environment and Human Health School of Public HealthNanjing Medical UniversityNanjing 211166China Division of Cancer Epidemiology and Genetics National Cancer InstituteBethesdaMD 20892-9304USA Department of Integrative Oncology British Columbia Cancer AgencyVancouverBC V5Z 1L3Canada Faculty of Medicine University of Oviedo and CIBERESPOviedo 33006Spain Program in Epidemiology Public Health Sciences DivisionFred Hutchinson Cancer Research CenterSeattleWA 98109-1024USA Public Health Sciences Division Swedish Cancer InstituteSeattleWA 98026USA Department of Clinical biochemistry Copenhagen University HospitalCopenhagen DK-1017Denmark National Cancer Institute BethesdaMD 20892-9304USA Genetic Epidemiology Group International Agency for Research on CancerLyon 69372France Cancer Center Cluster Salzburg at PLUS Department of Molecular BiologyUniversity of SalzburgHeidelberg 5020Austria Institute of Medical Informatics Biometry and EpidemiologyChair of EpidemiologyLudwig Maximilians UniversityMunichBavaria 80539Germany Department of Genetic Epidemiology University Medical Center GoettingenGoettingen 37075Germany Technion Faculty of Medicine Carmel Medical CenterHaifa 3448516Israel Markey Cancer Center University of KentuckyLexingtonKY 40506-0054USA Department of Molecular and Clinical Cancer Medicine Roy Castle Lung Cancer Research ProgrammeThe University of Liverpool Institute of Translational MedicineLiverpool L697Z

Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer(NSCLC)risk,biological mechanisms of these variants remain largely *** integrating a large-scale genotype data of 15581 lung adenocarcinoma(AD)cases,8350 squamous cell carcinoma(SqCC)cases,and 27355 controls,as well as multiple transcriptome and epigenomic databases,we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility *** identified 3064 credible risk variants for NSCLC,which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive *** factor enrichment analysis revealed that USF1 was AD-specific while CrEb1 was *** annotation and genebased analysis implicated 894 target genes,including 274 specifics for AD and 123 for SqCC,which were overrepresented in somatic driver genes(Er=1.95,P=0.005).Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways,while SqCC genes were homologous recombination deficiency *** results illustrate the molecular basis of both wellstudied and new susceptibility loci of NSCLC,providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.

关键词： lung cancer genome-wide association study function annotation immune homologous recombination repair deficiency genetic heterogeneity

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Molecular epidemiology and putative origin of hepatitis C virus in random volunteers from Argentina

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World Journal of Gastroenterology 2013年第35期19卷 5813-5827页

作者： Noemí del Pino José raúl Oubia Francisco rodríguez-Frías Juan Ignacio Esteban María buti teresa Otero Josep Gregori Damir García-Cehic Silvia Camos María Cubero rosario Casillas Jaume Guàrdia rafael Esteban Josep Quer Apunlab Laboratories Institute of Medical Microbiology and Parasitology (IMPAM) UbA-CONICET Department of MicrobiologyParasitology and Immunology Faculty of Medicine University of Buenos Aires CIbEr de Enfermedades Hepáticas y Digestivas (CIbErehd) del Instituto de Salud Carlos Ⅲ and Biochemistry Department Hospital Universitari Vall d’Hebrón (HUVH) CIbErehd del Instituto de Salud Carlos Ⅲ Autonomous University of Barcelona and Liver Unit Internal Medicine Lab. Malalties Hepatiques Vall d’Hebron Institut de Recerca (VHIR) Hospital Universitari Vall d’Hebrón (HUVH) Unitat de Diagnostic Molecular HUVH Liver Unit Internal Medicine Lab Malalties Hepatiques VHIR-HUVH roche Diagnostics SL CIbErehd del Instituto de Salud Carlos Ⅲ Liver Unit Internal Medicine Lab MalaltiesHepatiques VHIR-HUVH Liver Unit and biochemistry Department HUVH

AIM:To study the subtype prevalence and the phylogenetic relatedness of hepatitis C virus(HCV)sequences obtained from the Argentine general population,a large cohort of individuals was ***:Healthy Argentinian volunteers(n=6251)from 12 provinces representing all geographical regions of the country were *** parents or legal guardians of individuals younger than 18 years provided informed written consent for *** corresponding written permission from all municipal authorities was obtained from each city or town where subjects were to be *** rNA reverse transcription-polymerase chain reaction products were sequenced and phylogenetically *** 5’untranslated region(5’UTr)was used for rNA detection and initial genotype *** NS5b polymerase region,encompassing nt 8262-8610,was used for ***:An unexpectedly low prevalence of HCV infection in the general population(0.32%)was *** data contrasted with previous studies that reported rates ranging from 1.5%to 2.5%,mainly performed in selected populations of blood donors or vulnerable *** latter values are in keeping with the prevalence reported by the 2007 Argentinian HCV Consensus(approximately 2%).HCV subtypes weredistributed as follows:1a(25%),1b(25%),2c(25%),3a(5%),and 2j(5%).Two isolates ascribed either to genotype 1(5%)or to genotype 3(5%)by 5’UTr phylogenetic analysis could not be *** 1a sequences comprised a highly homogeneous population and clustered with United States ***1b sequences represented a heterogeneous population,suggesting that this genotype might have been introduced from different *** subtype 2c sequences clustered close to the 2c reported from Italy and Southern ***:HCV has a low prevalence of 0.32%in the studied general population of *** pattern of HCV introduction and transmission in Argentina appears to be a consequence of multiple events and different

关键词： Hepatitis C virus NS5b subtyping Molecular epidemiology Hepatitis C virus Argentina Hepatitis C virus 5’ untranslated region

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Prognostic value of increased carbohydrate antigen in patients with heart failure

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World Journal of Cardiology 2014年第4期6卷 205-212页

作者： Ana b Méndez Jordi Ordonez-Llanos Andreu Ferrero Mariana Noguero teresa Mir Josefina Mora Antoni bayes-Genis Sònia Mirabet Juan Cinca Eulàlia roig Cardiology Department Hospital de la Santa Creu i Sant PauInstitut de Recerca Biomèdica Sant Pau and Universitat Autònoma biochemistry Department Hospital de la Santa Creu i Sant PauInstitut de Recerca Biomèdica Sant Pau and Universitat Autònoma Cardiology Department Hospital Germans Trias I Pujol

AIM:To study the prognostic value of carbohydrateantigen 125(CA125) and whether it adds prognostic information to N-terminal pro-brain natriuretic peptide(NT-probNP) in stable heart failure(HF) ***:The predictive value of CA125 was retrospectively assessed in 156 patients with stable HF remitted to the outpatient HF unit for monitoring from 2009 to *** were included in the study if they had a previous documented episode of HF and received HF ***125 and NT-probNP concentrations were *** independent association between NT-probNP or CA125 and mortality was assessed with Cox regression analysis,and their combined predictive ability was tested by the integrated discrimination improvement(IDI) ***:The mean age of the 156 patients was 72 ± 12 *** follow-up(17 ± 8 mo),27 patients died,1 received an urgent heart transplantation and 106 required hospitalization for *** CA125 values were correlated with outcomes:58 ± 85 KU/L if hospitalized vs 34 ± 61 KU/L if not(P r needed urgent heart transplantation vs 45 ± 78 KU/L in survivors(P r adjusting for propensity scores,the highest risk was observed when both biomarkers were elevated vs not elevated(Hr = 8.95,95%CI:3.11-25.73; P rmediate when only NT-probNP was elevated vs not elevated(Hr = 4.15,95%CI:1.41-12.24; P reover,when CA125 was added to the clinical model with NT-probNP,a 4%(P rovement in the IDI was ***:CA125 > 60 KU/L identified patients in stable HF with poor *** CA125 level adds prognostic value to NT-probNP level in predicting HF outcomes.

关键词： Heart failure Prognosis Carbohydrate antigen 125 brain natriuretic peptides Survival

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Occurrence of Anguilla luzonensis in the Tributaries along the Lagonoy Gulf,Philippines

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Journal of Fisheries Science 2021年第1期3卷 8-16页

作者： Katrina L.Canon Plutomeo M.Nieves Antonino b.Mendoza Jr John Christopher C.Nolial Niño C.Celestial ronie O.Mediario raul G.bradecina teresa N.Avila Satoshi Kubota Graduate School of Integrated Arts and Sciences Kochi UniversityKohasuOkoNankokuKochi 783-8505Japan bicol University Tabaco Campus Tabaco City 4511AlbayPhilippines Partido State University Goa 4422Camarines SurPhilippines

Anguillids areаvaluable fish commodity *** Anguilla luzonensis have been abundantly found in the northern Philippines and collected for trade,no available records show that it recruited in the mid-part where Lagonoy Gulf,bicol is *** this study,we investigated the occurrence of *** in the tributaries along the Lagonoy Gulf,Philippines using molecular *** eel specimens were collected in 2018-2019 from the Comun river,Albay;the Lagonoy river,Camarines Sur;and the bato river,*** luzonensis was first reported in Lagonoy Gulf using molecular *** was the second most abundant species in the Comun and Lagonoy rivers(9.5 and 22.4%,respectively).Anguilla luzonensis collected from the Comun and Lagonoy rivers did not show a significant difference(FST=0.00825,p>0.05).Anguilla marmorata was the most dominant species in all tributaries(71.1-98.0%).In the Comun and Lagonoy rivers,*** pacifica was the third most abundant species(7.7 and 6.5%,respectively).In addition,Anguilla celebesensis was only found rarely in the Comun river(0.9%).This study provides important information for sustainable resource management and effective utilization of the eel species in these regions.

关键词： Anguilla Glass eels Species composition PCr-rFLP DNA sequencing Diversity

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Osmotic regulation and Viability during Storage of Potato Microtubers Obtained in Vitro

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Journal of Environmental Science and Engineering(b) 2020年第3期9卷 108-113页

作者： J.Gerardo Ortiz-Montiel M.teresa Ortiz-Melo Yolanda Pozos-ruiz rocio reyero-Saavedra Manuel Mandujano-Piña Miguel Verastegui-Vidal Plant Tissue Culture Laboratory Morphology and Function UnitFacultad de Estudios Superiores IztacalaUNAM.Los Reyes Iztacala 54090México

Dehydration,viability,proline,sucrose and glucose concentrations were evaluated on green and white microtubers during storage at two different *** 10 months at 4℃,the green and white microtubers showed shrinkage with a dry weight loss of 3.91%and 3.15%.both,the green and white microtubers at 4℃ presented an enhanced sprouting after *** 23℃,the green microtubers lost the lowest quantity in dry weight(0.8%)and white microtubers lost 2.2%.This behavior is possibly related to the increase in the thickness of the peridermis observed in green microtubers or to the osmotic regulation mediated principally by the observed concentrations of proline and glucose but not *** best storage conditions for potato microtubers obtained in vitro were at 4℃ for green or white microtubers for up to 10 months with little loss of viability.

关键词： Osmolite peridermis Solanum tuberosum suberization tuberization

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Fungal diversity notes 929-1035:taxonomic and phylogenetic contributions on genera and species of fungi

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Fungal Diversity 2019年第2期95卷 1-273页

作者： rungtiwa Phookamsak Kevin D.Hyde rajesh Jeewon D.Jayarama bhat E.b.Gareth Jones Sajeewa S.N.Maharachchikumbura Olivier raspe Samantha C.Karunarathna Dhanushka N.Wanasinghe Sinang Hongsanan Mingkwan Doilom Danushka S.Tennakoon Alexandre r.Machado Andre L.Firmino Aniket Ghosh Anuruddha Karunarathna Armin Mesic Arun Kumar Dutta benjarong Thongbai bandarupalli Devadatha Chada Norphanphoun Chanokned Senwanna Deping Wei Dhandevi Pem Frank Kwekucher Ackah Gen-Nuo Wang Hong-bo Jiang Hugo Madrid Hyang burm Lee Ishani D.Goonasekara Ishara S.Manawasinghe Ivana Kusan Josep Cano Josepa Gene Junfu Li Kanad Das Krishnendu Acharya K.N.Anil raj K.P.Deepna Latha K.W.Thilini Chethana Mao-Qiang He Margarita Duenas Margita Jadan Maria P.Martin Milan C.Samarakoon Monika C.Dayarathne Mubashar raza Myung Soo Park M.teresa Telleria Napalai Chaiwan Neven Matocec Nimali Ide Silva Olinto L.Pereira Paras Nath Singh Patinjareveettil Manimohan Priyanka Uniyal Qiu-Ju Shang rajendra P.bhatt rekhani H.Perera renato Lucio Mendes Alvarenga Sandra Nogal-Prata Sanjay K.Singh Santhiti Vadthanarat Seung-Yoon Oh Shi-Ke Huang Shiwali rana Sirinapa Konta Soumitra Paloi Subashini C.Jayasiri Sun Jeong Jeon Tahir Mehmood Tatiana baptista Gibertoni Thuong T.T.Nguyen Upendra Singh Vinodhini Thiyagaraja V.Venkateswara Sarma Wei Dong Xian-Dong Yu Yong-Zhong Lu Young Woon Lim Yun Chen Zdenko Tkalcec Zhi-Feng Zhang Zong-Long Luo Dinushani A.Daranagama Kasun M.Thambugala Saowaluck Tibpromma Erio Camporesi Timur S.bulgakov Asha J.Dissanayake Indunil C.Senanayake Dong Qin Dai Li-Zhou Tang Sehroon Khan Huang Zhang Itthayakorn Promputtha Lei Cai Putarak Chomnunti rui-Lin Zhao Saisamorn Lumyong Saranyaphat boonmee Ting-Chi Wen Peter E.Mortimer Jianchu Xu Key Laboratory for Plant Diversity and biogeography of East Asia Kunming Institute of BotanyChinese Academy of ScienceKunming 650201YunnanPeople’s Republic of China Institute of Animal Science State Key Laboratory of AnimalNutritionChinese Academy of Agricultural SciencesBeijing 100193People’s Republic of China Center of Excellence in Fungal research Mae Fah Luang UniversityChiang Rai 57100Thailand World Agroforestry Centre East and Central AsiaKunming 650201YunnanPeople’s Republic of China Mushroom research Foundation 128 M.3 Ban Pa Deng T.Pa PaeA.Mae TaengChiang Rai 50150Thailand Department of biology Faculty of ScienceChiang Mai UniversityChiang Mai 50200Thailand Department of Health Sciences Faculty of ScienceUniversity of MauritiusReduitMauritius No.128/1-J Co-Op Azad Housing SocietyCurcaGoa VelhaIndia Department of Crop Sciences College of Agricultural and Marine SciencesSultan Qaboos UniversityPO Box 8123 Al KhoudOman botanic Garden Meise Nieuwelaan 381860 MeiseBelgium Federation Wallonie-bruxelles Service general de l’Enseignement universitaire et de la Recherche scientifiqueRue A.Lavallee 11080 BrusselsBelgium Shenzhen Key Laboratory of Microbial Genetic Engineering College of Life Science and OceanographyShenzhen University3688Nanhai AvenueNanshanShenzhen 518060People’s Republic of China Department of Plant Medicine National Chiayi University300 Syuefu RoadChiayi City 60004Taiwan Departamento de Micologia Universidade Federal de PernambucoRecifePernambucoBrazil Instituto de Ciencias Agrarias Universidade Federal de UberlandiaMonte CarmeloMinas GeraisBrazil Department of botany&Microbiology H.N.B.Garhwal UniversitySrinagarGarhwal 246174UttarakhandIndia Department of Entomology and Plant Pathology Faculty of AgricultureChiang Mai UniversityChiang Mai 50200Thailand ruder boskovic Institute Bijenicka cesta 5410000 ZagrebCroatia Molecular and Applied Mycology and Plant Pathology Laboratory Department of BotanyUniversity of CalcuttaKolkataWest Bengal

This article is the ninth in the series of Fungal Diversity Notes,where 107 taxa distributed in three phyla,nine classes,31 orders and 57 families are described and *** described in the present study include 12 new genera,74 new species,three new combinations,two reference specimens,a re-circumscription of the epitype,and 15 records of sexualasexual morph connections,new hosts and new geographical *** new genera comprise brunneofusispora,brunneomurispora,Liua,Lonicericola,Neoeutypella,Paratrimmatostroma,Parazalerion,Proliferophorum,Pseudoastrosphaeriellopsis,Septomelanconiella,Velebitea and ***-four new species are Agaricus memnonius,***,Aleurodiscus patagonicus,Amanita flavoalba,***,Amphisphaeria mangrovei,baorangia major,bartalinia kunmingensis,brunneofusispora sinensis,brunneomurispora lonicerae,Capronia camelliaeyunnanensis,Clavulina thindii,Coniochaeta simbalensis,Conlarium thailandense,Coprinus trigonosporus,Liua muriformis,Cyphellophora filicis,Cytospora ulmicola,Dacrymyces invisibilis,Dictyocheirospora metroxylonis,Distoseptispora thysanolaenae,Emericellopsis koreana,Galiicola baoshanensis,Hygrocybe lucida,Hypoxylon teeravasati,Hyweljonesia indica,Keissleriella caraganae,Lactarius olivaceopallidus,Lactifluus midnapurensis,Lembosia brigadeirensis,Leptosphaeria urticae,Lonicericola hyaloseptispora,Lophiotrema mucilaginosis,Marasmiellus bicoloripes,Marasmius indojasminodorus,Micropeltis phetchaburiensis,Mucor orantomantidis,Murilentithecium lonicerae,Neobambusicola brunnea,Neoeutypella baoshanensis,Neoroussoella heveae,Neosetophoma lonicerae,Ophiobolus malleolus,Parabambusicola thysanolaenae,Paratrimmatostroma kunmingensis,Parazalerion indica,Penicillium dokdoense,Peroneutypa mangrovei,Phaeosphaeria cycadis,Phanerochaete australosanguinea,Plectosphaerella kunmingensis,Plenodomus artemisiae,***,Proliferophorum thailandicum,Pseudoastrosphaeriellopsis kaveriana,Pseudohelicomyces menglunicu

关键词： 86 new taxa Agaricomycetes Ascomycota basidiomycota Dacrymycetes Dothideomycetes Eurotiomycetes Lecanoromycetes Leotiomycetes Mucoromycetes Mucoromycota Pezizomycetes Sordariomycetes Taxonomy

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