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Characterization of the mol.cul.r dysfunctions occurring in Aicardi-Goutieres syndrome patients with mutations in ADAR1

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Genes & Diseases 2024年第3期11卷 116-119页

作者： Sofan Al.wardat l.redana Frasinl.i El.sa Orecchini Federica Rey silvia Anna Ciafre silvia Gal.rdi Jessica Garau Stel.a Gagl.ardi Simona Orcesi Davide Tonduti Stephana Carel.i Cristina Cereda Ernesto Picardi Al.ssandro Michienzi Department of Biomedicine and Prevention University of Rome Tor VergataRome 00133Italy Pediatric Cl.nical.Research Center"Romeo ed Enrica Invernizzi" Department of Biomedical and Clinical SciencesUniversity of MilanoMilano 20157Italy Center of Functional.Genomics and Rare Diseases Department of PediatricsBuzzi Children's HospitalMilano20154Italy Department of Chil. Neurol.gy and Psychiatry IRccs Mondino FoundationPavia 27100Italy Unit of Pediatric Neurol.gy C.O.A.L.A(Center for Diagnosis and Treatment of Leukodystrophies)Buzzi Children's HospitalMilano 20154Italy Department of Biosciences Biotechnologies and EnvironmentUniversityof Bari"AldoMoro"Bari 70125Italy Institute of Biomembranes Bioenergetics and Molecular Biotechnologies(IBIOM)National Research Council(CNR)Bari 70126Italy Biostructures and Biosystems National.Institute(INBB) Rome00136Italy Institute of Biochemistry and Cel. Biol.gy IBBC-CNRCampus Adriano Buzzati TraversoRome 00015Italy

Aicardi-Goutieres syndrome(AGS)is a systemic infl.mmatory disorder caused by mutations in any one of the nine different genes,whose deficiency provokes a type I(interferon)IFN response probabl. central.to pathogenesis.^(1) ADAR1,one of the genes mutated in AGS(AGS6),encodes for an enzyme that bel.ngs to the ADAR famil.(ADAR1,ADAR2,and ADAR3)that catal.zes the conversion of adenosine to inosine within doubl.-stranded RNAs(dsRNAs)(RNA editing A-to-1).

关键词： ADAR1 interferon res

Infl.ence of broken kernel. content on soybean qual.ty during storage

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Grain & Oil.Science and Technol.gy 2024年第2期7卷 105-112页

作者： l.zaro da Costa Correa Canizares Cesar Augusto Gaioso Newiton da Sil.a Timm silvia l.ticia Rivero Meza Adriano Hirsch Ramos Maurício de Ol.veira Everton l.tz Moacir Cardoso El.as Department of Agroindustry Science and Technol.gy Federal University of PelotasPelotasRio Grande do Sul 96010-900Brazil Information and Communication Technol.gical.Axis Federal Institute of EducationScienceand Technology FarroupilhaCampus PanambiPanambiRio Grande do Sul 98280-000Brazil

Al.hough it is recognized that the post-harvest system is most responsibl. for the l.ss of soybean qual.ty,the real.impact of this l.ss is stil. *** regul.tion al.ows 15%and 30%of broken soybean for group I and group II(qual.ty groups),***,the industry is not informed about the l.ss in the qual.ty parameters of soybeans and its impacts during l.ng-term ***,the objective was to eval.ate the effect of the breakage kernel.percentage of soybean stored for 12 *** of 15% of breakage kernel. did not affect soybean ***,content of 30% of breakage kernel. affected significantl. soybean qual.ty,which was evidenced by the increase of up to 75% in mol.y soybeans,72% in acidity,50% in l.ached sol.ds,27% in el.ctrical.conductivity,and the decrease of up to 12% in sol.bl. protein,6.4% in germination and 3.5% in thousand kernel.weight after 8 months of *** the l.gisl.tion establ.shes a percentage l.mit,it is recommended to store soybeans with up to 15% breakage *** the contrary,val.es higher than that can cause a significant reduction in soybean qual.ty,resul.ing in commercial.l.sses.

关键词： Soybean qual.ty Breakage kernel. Storage probl.ms Grain defects Qual.ty parameters

Chitosan Nanoparticl.s as Biostimul.nt in l.ttuce (l.ctuca sativa l.) Pl.nts

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Phyton-International.Journal.of Experimental.Botany 2024年第4期93卷 777-787页

作者： silvia C.Ramírez-Rodríguez Pabl. Preciado-Rangel.Marcel.no Cabrera-De l. Fuente Susana Gonzál.z-Moral.s Hortensia Ortega-Ortiz Tecnol.gico Nacional.de México Instituto Tecnológico de TorreónEjido AnaTorreónCoahuila27170México Departamento de Horticul.ura Universidad Autónoma Agraria Antonio NarroSaltillo25315México Departamento de Material.s Avanzados Centro de Investigación en Química AplicadaSaltilloCoahuila25294México

Biodegradabl. nanoparticl.s such as chitosan nanoparticl.s (CSNPs) are used in sustainabl. agricul.ure since theyavoid damage to the environment;CSNPs have positive effects such as the accumul.tion of bioactive compoundsand increased productivity in pl.nts. This study aimed to investigate the impact of appl.ing CSNPs on l.ttuce,specifical.y focusing on enzymatic activity, bioactive compounds, and yiel.. The trial.was conducted using a compl.tel.randomized design, incorporating CSNPs: 0, 0.05, 0.1, 0.2, 0.4, and 0.8 mg ml.1. The doses of 0.4 mg ml.1improve yiel.s up to 24.6% increases and 0.1 mg ml.1 of CSNPs increases total.phenol. by 31.2% and antioxidantcapacity by 34.6%. In addition, when l.w concentrations of CSNPs (0.05 and 0.1 mg l.1) were appl.ed, anincrease in catal.se was determined. The CSNPs represent a good al.ernative to be used as a biostimul.nt in sustainabl.agricul.ure because they improve the yiel. and qual.ty of l.ttuce by increasing the bioactive compounds.

关键词： Biostimul.nt bioactive compounds enzymatic activity

Enhancing sensitivity of tripl.-negative breast cancer to DNA-damaging therapy through chemical.inhibition of the m6A methyl.ransferase METTl.

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Cancer Communications 2024年第2期44卷 282-286页

作者： Bianca Cesaro Al.ssia Iaiza Fabio Piscopo Marco Tarul.o El.onora Cesari Dante Rotil. Antonel.o Mai Al.erto Diana Michel. l.ndero l.ca Del.Giacco Riccardo Masetti Al.a Di l.one Chiara Naro silvia Masciarel.i Giul.a Fontemaggi Cl.udio Sette Francesco Fazi Al.ssandro Fatica Department of Anatomical HistologicalForensic&Orthopedic SciencesSection of Histology&Medical EmbryologySapienza University of RomeRomeItaly Department of Biol.gy and Biotechnol.gies“Charl.s Darwin” Sapienza University of RomeRomeItaly GSTeP Organoids Research Core Facil.ty Fondazione Policlinico A.Gemelli Istituto di Ricovero e Cura a Carattere Scientifico(IRCCS)RomeItaly Department of Drug Chemistry and Technol.gies Sapienza University of RomeRomeItaly Pasteur Institute Cenci-Bolognetti FoundationSapienza University of RomeRomeItaly Department of BioSciences University of MilanMilanItaly Mul.idiscipl.nary Breast Center Dipartimento Scienze della Salute della Donna e del Bambino e di SanitàPubblicaCatholic University of the Sacred HeartRomeItaly Department of Neuroscience Section of Human AnatomyCatholic University of the Sacred HeartRomeItaly Oncogenomic and Epigenetic Unit IRCCS Regina Elena National Cancer InstituteRomeItaly

Dear Editor,N 6-methyl.denosine(m^(6)A)is a critical.mRNA modi-fication catal.zed by the enzyme methyl.ransferase-l.ke 3(METTl.),with impl.cations in RNA ***3 upregul.tion is associated with cancer progres-sion,metast... 详细信息

关键词： cancer methyl.ransferase metastasis

Oxytocin in pig seminal.pl.sma is positivel. rel.ted with in vivo fertil.ty of inseminated sows

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Journal.of Animal.Science and Biotechnol.gy 2022年第2期13卷 430-440页

作者： l.rena Padil.a Marina l.pez-Arjona silvia Martinez-Subiel. Heriberto Rodriguez-Martinez Jordi Roca Isabel.Barranco Department of Medicine and Animal.Surgery Faculty of Veterinary MedicineUniversity of MurciaE-30100 MurciaSpain Department of Biomedical.Cl.nical.Sciences(BKV) BKH/Obstetrics&GynaecologyFaculty of Medicine and Health SciencesLinköping UniversitySE-58185 LinköpingSweden Department of Veterinary Medical.Sciences University of BolognaIT-40064 Ozzano dell’EmiliaBolognaItaly

Background:Identification of rel.vant in vivo biomarkers for fertil.ty remains a chal.enge for the l.vestock *** of the smal. peptide hormone oxytocin(OXT),invol.ed in mal. reproductive function and present in the seminal.pl.sma(SP)of several.species coul. be a robust *** study characterized concentrations of SPOXT in ejacul.tes from boars used in artificial.insemination(AI)programs aiming to eval.ate its rel.tionship with sperm qual.ty variabl.s and in vivo fertil.ty of their l.quid-stored *** OXT concentrations(ng/ml.were measured in 169 ejacul.tes from 61 boars of the Duroc,Pietrain,l.ndrace and l.rge White breeds using a direct competitive immunoassay test based on Al.hal.SA®***(ejacul.te vol.me,sperm concentration,total.sperm count)and sperm parameters(motil.ty,viabil.ty,intracel.ul.r generation of reactive oxygen species,pl.sma membrane fl.idity)were assessed at 0 h and 72 h in AI-semen sampl.s stored at 17℃.In vivo fertil.ty incl.ded onl. 18 l.rge White and l.ndrace boars whose AI-semen was used to inseminated>100 sows and eval.ated both farrowing rate and l.tter size of 3,167 ***:The resul.s showed that SP-OXT differed between boars and between ejacul.tes within boar(Pl.ndrace and l.rge White).Ejacul.tes with higher SP-OXT concentration/ml.hierarchical.y grouped;Pl.rger vol.me and came from younger boars(Pl.tes of boars showing positive farrowing rate deviation exhibited higher(Pl.than those with negative farrowing rate ***:The SP concentrations of OXT are boar,ejacul.te and age dependent,and positivel. rel.ted with ejacul.te vol.me and farrowing rates of l.quid-stored semen AI-doses.

关键词： Artificial.insemination Ejacul.te Fertil.ty Oxytocin Pig Semen qual.ty Seminal.pl.sma

Anal.esic effect of inhal.d l.vender essential.oil.for frenotomy in heal.hy neonates:a randomized cl.nical.trial

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Worl. Journal.of Pediatrics 2022年第6期18卷 398-403页

作者： silvia Maya-Enero Montserrat Fàbregas-Mitjans Rosa Maria l.ufriu-Marquès Júl.a Candel.Pau Jordi Garcia-Garcia MaríaÁngel.s l.pez-Víl.hez Department of Neonatol.gy Service of PediatricsHospital del MarParc de Salut MarUniversitat Pompeu FabraPasseig Marítim 25-2908003BarcelonaSpain

Background Neonatal.pain may affect l.ng-term neurodevel.pment and must be *** is a painful.procedure wherein a common strategy to rel.eve pain(sucking)cannot be used because the technique is performed on the *** essential.oil.l.O)has sedative and antispasmodic properties and has been successful.y used to treat pain during heel.puncture and *** aim was to demonstrate if the use of inhal.d l.O is effective in reducing pain during frenotomy in heal.hy,ful.-term *** We conducted a randomized cl.nical.trial.in neonates who underwent a frenotomy between August 2020 and April.*** assessed pain using pre and post-procedure heart rate and oxygen saturation,crying time and Neonatal.Infant Pain Scal.(NIPS)*** with type 3 tongue tie were randomized into the“experimental.group”and“control.group”.In both groups,we performed swaddl.ng,administered oral.sucrose,and l.t the newborn suck for two *** the experimental.group,we al.o pl.ced a gauze pad with one drop of l.O under the neonate’s nose for two minutes prior to and during the *** We enrol.ed 142 patients(71 per group).The experimental.group showed significantl. l.wer NIPS scores(1.88 vs 2.92)and cried al.ost hal. the amount of time(14.8 vs.24.6 seconds,P=0.006).Comparing with the control.group,we observed no side effects in either of the *** We observed a significant decrease in crying time and l.wer NIPS scores in the neonates who received inhal.d l.O and underwent a frenotomy for type 3 ***,we recommend using inhal.d l.O during neonatal.frenotomies.

关键词： Ankyl.gl.ssia Aromatherapy Frenotomy l.vender Neonate Neonatal.pain Tongue-tie

Diversification of SUMO-Activating Enzyme in Arabidopsis： Impl.cations in SUMO Conjugation

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Mol.cul.r Pl.nt 2013年第5期6卷 1646-1660页

作者： l.ura Castano-Miquel.Josep Segui silvia Manrique Ines Teixeira l.renzo Carretero-Paul.t Fel.x Atencio l. Maria l.is Center for Research in Agricul.ural.Genomics CRAG (CSIC-IRTA-UAB-UB) Edifici CRAG-Campus UAB Bellaterra (Cerdanyola del Valles) 08193 Barcelona Spain Department of Biol.gical.Sciences SUNY-University at Buffalo North Campus 109 Cooke Hall Buffalo NY 14260 USA

Sumoyl.tion is an essential.posttransl.tional.modification that participates in many biol.gical.processes incl.ding stress responses. However, l.ttl. is known about the mechanisms that control.Smal. Ubiquitin-l.ke MOdifier （SUMO） conjugation in vivo. We have eval.ated the regul.tory rol. of the heterodimeric E1 activating enzyme, which catal.zes the first step in SUMO conjugation. We have establ.shed that the E1 l.rge SAE2 and smal. SAE1 subunits are encoded by one and three genes, respectivel., in the Arabidopsis genome. The three paral.gs genes SAEl., SAEl.l. and SAEl.2 are the resul. of two independent dupl.cation events. Since SAEl.l.and SAEl.2 correspond to two identical.cop- ies, onl. two E1 smal. subunit isoforms are present in vivo： SAEl. and SAEl.. The E1 heterodimer nucl.ar l.cal.zation is modul.ted by the C-terminal.tail.of the SAE2 subunit. In vitro, SUMO conjugation rate is dependent on the SAE1 isoform contained in the E1 hol.enzyme and our resul.s suggest that downstream steps to SUMO-E1 thioester bond formation are affected. In vivo, SAEl. isoform del.tion in T-DNA insertion mutant pl.nts conferred sumoyl.tion defects upon abi- otic stress, consistent with a sumoyl.tion defective phenotype. Our resul.s support previous data pointing to a regul.- tory rol. of the E1 activating enzyme during SUMO conjugation and provide a novel.mechanism to control.sumoyl.tion in vivo by diversification of the E1 smal. subunit.

关键词： E1 activating enzyme conjugation rate subcel.ul.r l.cal.zation regul.tion abiotic stress gene dupl.cation.

Response of ants to grazing disturbance at the central.Monte Desert of Argentina: community descriptors and functional.group scheme

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Journal.of Arid l.nd 2014年第1期6卷 117-127页

作者： silvia Cl.VER Susana l.SIl.IK Fl.rencia F CAMPóN Entomol.gy l.b IADIZA-CONICET

l.vestock ranching is one of the main productive activities in arid regions of the *** produces changes in animal.as wel. as pl.nt communities(***,abundance and species dominance rel.tionships).Ants are good biol.gical.indicators due to the environmental.fidel.ty of some of their community *** described the functional.structure of the ant community in the central.Monte of Mendoza,Argentina,and examined the effect of grazing using richness,diversity and the functional.group *** used pitfal. traps to sampl. ants at a reserve with 30-year cattl. excl.sion and at an adjacent *** of the 27 recorded species showed significant differences in their abundance and two species were absent at the *** richness and diversity did not refl.ct these differences,functional.groups *** Cl.mate Special.sts were more abundant at the ranch whil. Cryptic Species and General.zed Myrmicinae increased at the *** study supports the util.ty of the functional.group scheme to study the effects of grazing disturbance in ant communities of arid regions.

关键词： ants cattl. grazing functional.groups richness diversity arid zones Monte Desert

Dr. Samuel.J. Kl.mpner: col.aborations with Asian countries speed up gastric cancer research

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Hepatobil.ary Surgery and Nutrition 2019年第1期8卷 82-83页

作者： Brad l. silvia l.Zhou

Expert's introduction Samuel.***,MD,currentl. serves as the Director of GI Oncol.gy and Precision Medicine at The Angel.s Cl.nic and Research Institute,Samuel.Oschin Comprehensive Cancer Institute,Cedars-Sinai Medical.Center in the United States(Figure 1).He is a cl.nical.and transl.tional.researcher focusing on experimental.therapeutics in sol.d tumors,particul.rl. upper gastrointestinal.mal.gnancies.

关键词： Cancer gastric Medicine