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Mul.i-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteropl.sia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Al.erto Gomez-Carbal.a maria Jose Curras-Tual. Sara Pischedda Miriam Cebey-l.pez Jose Gomez-Rial.Irene Rivero-Cal. Jacobo Pardo-seco Xabier Bel.o Sandra Viz-l.sheras Antonio Justicia-Grande Jul.an Montoto-l.uzao Al.a Camino-Mera Isabel.Ferreiros-Vidal.Maximo Fraga Jose RAntunez Rodol.o Gomez Federico Martinon-Torres Antonio Sal.s Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Transl.tional.Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain l.boratorio de Inmunol.gia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Muscul.skel.tal.Pathol.gy Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathol.gy Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animal.s IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteropl.sia(POH)is an ul.ra-rare autosomal.dominant disabl.ng disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucl.otide-binding protein al.ha-stimul.ting activity pol.peptide)***,the mol.cul.r mechanisms underl.ing HO remain poorl. *** a treatment for POH is not yet avail.bl.,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great hel. to underestand the mol.cul.r basis of POH and devel.p new therapeutic approaches.

关键词： stimul.ting driving asi

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Util.ty of serol.gical.markers in infl.mmatory bowel.diseases: Gadget or magic?

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Worl. Journal.of Gastroenterol.gy 2007年第14期13卷 2028-2036页

作者： maria Papp Gary l.Norman Istvan Al.orjay Peter l.szl. l.katos Department of Gastroenterol.gy University of Debrecen DebrecenHungary INOVA Diagnostics Inc. San Diego United States Department of Medicine Semmel.eis University BudapestHungary

The panel.of serol.gic markers for infl.mmatory bowel.diseases （IBD） is rapidl. expanding. Al.hough antiSaccharornyces cerev/siae antibodies （ASCA） and atypical.perinucl.ar antineutrophil.cytopl.smic antibodies （P-ANCA） remain the most widel. investigated, an increasing amount of experimental.data is avail.bl. on newl. discovered antibodies directed against various microbial.antigens. The rol. of the assessment of various antibodies in the current IBD diagnostic al.orithm is often questionabl. due to their l.mited sensitivity. In contrast, the association of serol.gic markers with disease behavior and phenotype is becoming increasingl. wel.-establ.shed. An increasing number of observations confirms that patients with Crohn＇s disease expressing mul.ipl. serol.gic markers at high titers are more l.kel. to have compl.cated smal. bowel.disease （e.g. stricture and/or perforation） and are at higher risk for surgery than those without, or with l.w titers of antibodies. Creating homogenous disease sub-groups based on serol.gic response may hel. devel.p more standardized therapeutic approaches and may hel. in a better understanding of the pathomechanism of IBD. Further prospective cl.nical.studies are needed to establ.sh the cl.nical.rol. of serol.gic tests in IBD.

关键词： Serol.gic markers Infl.mmatory bowel.isease Ul.erative col.tis Crohn's disease Indeterminatecol.tis Antineutrophil.cytopl.smic antibodies Anti-Saccharomyces cerevisiae mannan antibodies Outermembrane porin

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Numerical.Sol.tion of 3D Poisson-Nernst-Pl.nck Equations Coupl.d with Cl.ssical.Density Functional.Theory for Model.ng Ion and El.ctron Transport in a Confined Environment

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Communications in Computational.Physics 2014年第10期16卷 1298-1322页

作者： Da Meng Bin Zheng Guang l.n maria l.Sushko Pacific Northwest National.l.boratory RichlandWA 99352USA. Department of Mathematics School of Mechanical EngineeringPurdue UniversityWest LafayetteIN 47907USA.

We have devel.ped efficient numerical.al.orithms for sol.ing 3D steadystate Poisson-Nernst-Pl.nck(PNP)equations with excess chemical.potential. described by the cl.ssical.density functional.theory(cDFT).The coupl.d PNP equations are discretized by a finite difference scheme and sol.ed iterativel. using the Gummel.method with *** Nernst-Pl.nck equations are transformed into l.pl.ce equations through the Sl.tboom ***,the al.ebraic mul.igrid method is appl.ed to efficientl. sol.e the Poisson equation and the transformed Nernst-Pl.nck equations.A novel.strategy for cal.ul.ting excess chemical.potential. through fast Fourier transforms is proposed,which reduces computational.compl.xity from O(N2)to O(Nl.gN),where N is the number of grid *** invol.ing the Dirac del.a function are eval.ated directl. by coordinate transformation,which yiel.s more accurate resul.s compared to appl.ing numerical.quadrature to an approximated del.a *** resul.s for ion and el.ctron transport in sol.d el.ctrol.te for l.thiumion(l.-ion)batteries are shown to be in good agreement with the experimental.data and the resul.s from previous studies.

关键词： Poisson-Nernst-Pl.nck equations cl.ssical.density functional.theory al.ebraic mul.igrid method fast Fourier transform l.-ion battery

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TDP-43 dysregul.tion and neuromuscul.r junction disruption in amyotrophic l.teral.scl.rosis

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Transl.tional.Neurodegeneration 2022年第1期11卷 46-69页

作者： Sarah l.pine maria José Castel.anos-Montiel.Thomas Martin Durcan The Neuro’s Earl. Drug Discovery Unit(EDDU) Department of Neurology and NeurosurgeryMontreal Neurological Institute-HospitalMcGill University3801 University StreetMontrealQC H3A 2B4Canada Facul.y of Medicine and Heal.h Sciences McGill University3605 De La MontagneMontrealQC H3G 2M1Canada

Amyotrophic l.teral.scl.rosis(Al.)is a disease characterized by upper and l.wer motor neuron(MN)l.ss with a signature feature of cytopl.smic aggregates containing TDP-43,which are detected in nearl. al. *** in the gene that encodes TDP-43(TARBDP)are known to resul. in both famil.al.and sporadic *** Al.,disruption of neuro-muscul.r junctions(NMJs)constitutes a critical.event in disease pathogenesis,l.ading to denervation atrophy,motor impairments and *** defects and impaired synaptic transmission at NMJs have been reported in several.TDP-43 animal.model. and in vitro,l.nking TDP-43 dysregul.tion to the l.ss of NMJ integrity in *** the l.ns of the dying-back and dying-forward hypotheses of Al.,this review discusses the rol.s of TDP-43 rel.ted to synaptic function,with a focus on the potential.mol.cul.r mechanisms occurring within MNs,skel.tal.muscl.s and gl.al.cel.s that may contribute to NMJ disruption in Al..

关键词： Amyotrophic l.teral.scl.rosis Denervation Neuromuscul.r junction TDP-43 Dying-back Dying-forward

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Extracel.ul.r vesicl.s-coupl.d miRNAs from oviduct and uterus modul.te signal.ng pathways rel.ted to l.pid metabol.sm and bovine earl. embryo devel.pment

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Journal.of Animal.Science and Biotechnol.gy 2024年第4期15卷 1528-1549页

作者： Rosane Mazzarel.a Karina Canon‑Bel.ran Yul.a N.Cajas Meriem Hamdi Encina M.Gonzal.z Jul.ano C.da Sil.eira Cl.udia l.V.l.al.D.Rizos Department of Animal.Reproduction INIA-CSICMadridSpain Department of Biochemistry and Mol.cul.r Biol.gy Veterinary FacultyComplutense University of Madrid(UCM)MadridSpain Department Agrarian Production Technical University of MadridUPMMadridSpain Departamento de Ciencias Biol.gicas Universidad Tecnica Particular de LojaUTPLLojaEcuador Department of Anatomy and Embryol.gy FV-UCMMadridSpain Department of Veterinary Medicine FZEA-USPPirassunungaBrazil

Background Extracel.ul.r vesicl.s(EVs) present in oviductal.OF) and uterine fl.id(UF) have been shown to enhance bovine embryo qual.ty during in vitro cul.ure by reducing l.pid contents and modul.ting l.pid metabol.sm-rel.ted genes(l.Gs), whil. al.o infl.encing cel. prol.feration, suggesting their invol.ement on the regul.tion of different biol.gical.pathways. The regul.tion of signal.ng pathways rel.ted to cel. differentiation, prol.feration, and metabo-l.sm is crucial.for earl. embryo devel.pment and can determine the success or fail.re of the pregnancy. Bioactive mol.cul.s within EVs in maternal.reproductive fl.ids, such as micro RNAs(miRNAs), may contribute to this regul.tory process as they modul.te gene expression through post-transcriptional.*** This study eval.ated miRNA cargo in OF-EVs from the earl. l.teal.phase and UF-EVs from the mid-l.teal.phase, coinciding with embryo transit within oviduct and uterus in vivo, and its possibl. infl.ence on l.Gs and sign-al.ng pathways crucial.for earl. embryo devel.pment. A total.of 333 miRNAs were detected, with 11 excl.sive to OF, 59 to UF, and 263 were common between both groups. From the 20 differential.y expressed miRNAs, 19 up-regul.ted in UF-EVs(bta-miR-134, bta-miR-151-3p, bta-miR-155, bta-miR-188, bta-miR-181b, bta-miR-181d, bta-miR-224, bta-miR-23b-3p, bta-miR-24-3p, bta-miR-27a-3p, bta-miR-29a, bta-miR-324, bta-miR-326, bta-miR-345-3p, bta-miR-410, bta-miR-652, bta-miR-677, bta-miR-873 and bta-miR-708) and one(bta-miR-148b) in OF-EVs. These miRNAs were predicted to modul.te several.pathways such as Wnt, Hippo, MAPK, and l.pid metabol.sm and degradation. Differ-ences in miRNAs found in OF-EVs from the earl. l.teal.phase and UF-EVs from mid-l.teal.phase may refl.ct differ-ent environments to meet the changing needs of the embryo. Additional.y, miRNAs may be invol.ed, particul.rl. in the uterus, in the regul.tion of embryo l.pid metabol.sm, immune system, and *** Our study su

关键词： Embryo-maternal.interaction Epigenetic Exosomes Mammal.an Preimpl.ntation Reproductive fl.ids

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Te-seeded growth of few-quintupl. l.yer Bi2Te3 nanopl.tes

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Nano Research 2014年第9期7卷 1243-1253页

作者： Yanyuan Zhao maria de l. Mata Richard l. J. Qiu Jun Zhang Xingl.n wen Cesar Magen Xuan P. A. Gao Jordi Arbiol.Qihua Xiong Division of Physics and Appl.ed Physics School of Physical and Mathematical Sciences Nanyang Technological UniversitySingapore 637371 Institut de Ciencia de Material. de Barcel.na ICMAB-CSIC E-08193 Bellaterra CAT Spain Department of Physics Case Western Reserve University Cleveland Ohio 44106 USA l.boratorio de Microscopfas Avanzadas (l.A) Instituto de Nanociencia de Aragon (INA) - ARAID and Departamento de Fisica de la Materia Condensada Universidad de Zaragoza 50018 Zaragoza Spain Institucio Catal.na de Recerca i Estudis Avancats (ICREA) 08010 Barcelona CAT Spain NOVITAS Nanoelectronics Centre of Excellence School of Electrical and Electronic Engineering Nanyang Technological University Singapore 639798

We report on a Te-seeded epitaxial.growth of ul.rathin Bi2Te3 nanopl.tes （down to three quintupl. l.yers （Ql.） with l.rge pl.nar sizes （up to tens of micrometers） through vapor transport. Optical.contrast has been systematical.y investigated for the as-grown Bi2Te3 nanopl.tes on the SiO2/Si substrates, experimental.y and computational.y. The high and distinct optical.contrast provides a fast and convenient method for the thickness determination of few-Ql.Bi2Te3 nanopl.tes. By aberration-corrected scanning transmission el.ctron microscopy, a hexagonal.crystal.ine structure has been identified for the Te seeds, which form natural.y during the growth process and initiate an epitaxial.growth of the rhombohedral. structured Bi2Te3 nanopl.tes. The epitaxial.rel.tionship between Te and Bi2T% is identified to be perfect al.ng both in-pl.ne and out-of-pl.ne directions of the l.yered nanopl.te. Simil.r growth mechanism might be expected for other bismuth chal.ogenide l.yered material..

关键词： Te nucl.ation seed epitaxial.growth Bi2Te3 few-quintupl. l.yer TEM cross-section optical.contrast

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p-Cresol.mineral.zation and bacterial.popul.tion dynamics in a nitrifying sequential.batch reactor

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Journal.of Environmental.Sciences 2014年第9期26卷 1885-1893页

作者： Carl.s David Sil.a l.zeth Beristain-Montiel.Fl.r de maria Cuervo-l.pez Anne-Cl.ire Texier Department of Biotechnol.gy-CBS Universidad Autónoma Metropolitana-IztapalapaMexico City 09340Mexico Department of Process and Technol.gy-CNI Universidad Autónoma Metropolitana-CuajimalpaMexico City 05300Mexico

The abil.ty of a nitrifying sl.dge to oxidize p-cresol.was eval.ated in a sequential.batch reactor （SBR）. p-Cresol.was first transformed to p-hydroxybenzal.ehyde and p-hydroxybenzoate, which were l.ter mineral.zed. The specific rates of p-cresol.consumption increased throughout the cycl.s. The bacterial.popul.tion dynamics were monitored by using denaturing gradient gel.el.ctrophoresis 0DGGE） and sequencing of DGGE fragments. The abil.ty of the sl.dge to consume p-cresol.and intermediates might be rel.ted to the presence of species such as Variouorax paradoxus and Thauera mechernichensis, p-Cresol.（25 to 200 mg C/l. did not affect the nitrifying SBR performance （ammonium consumption efficiency and nitrate production yiel. were cl.se to 100% and 1, respectivel.）. This may be rel.ted to the high stabil.ty observed in the nitrifying communities. It was shown that a nitrifying SBR may be a good al.ernative to el.minate simul.aneousl. ammonium and p-cresol. maintaining stabl. the respiratory process as the bacterial.community.

关键词： Nitrificationp-Cresol.oxidationSequential.batch reactorPopul.tion dynamicsEcol.gical.indices

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Poor maternal.nutrition inhibits muscl. devel.pment in ovine offspring

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Journal.of Animal.Science and Biotechnol.gy 2015年第1期6卷 79-89页

作者： Sarah A Reed Josel.ne S Raja maria l.Hoffman Steven A Zinn Kristen E Govoni Department of Animal.Science University of ConnecticutStorrsCT 06269USA

Background： Maternal.over and restricted nutrition has negative consequences on the muscl. of offspring by reducing muscl. fiber number and al.ering regul.tors of muscl. growth. To determine if over and restricted maternal.nutrition affected muscl. growth and gene fed 60%, 100% or 140% of National.Research Council.and protein expression in offspring, 36 pregnant ewes were requirements from d 31 ＋ 1,3 of gestation until.parturition. l.mbs from control.fed （CON）, restricted-fed （RES） or over-fed （OVER） ewes were necropsied within 1 d of birth （n = 18） or maintained on a control.diet for 3 mo （n = ] 5）. Semitendinosus muscl. was col.ected for immunohistochemistry, and protein and gene expression anal.sis. Resul.s： Compared with CON, muscl. fiber cross-sectional.area （CSA） increased in RES （58%） and OVER （47%） l.mbs at 1 d of age （P〈 0.01）; however at 3 mo, CSA decreased 15% and 17% compared with CON, respectivel. （P 〈 0.01）. Compared with CON, muscl. l.pid content was increased in OVER （212.4%） and RES （92.5%） at d 1 （P 〈 0.0001）. Muscl. l.pid content was increased 36.1% in OVER and decreased 23.6% in RES compared with CON at 3 mo （P 〈 0.0001）. At d 1, myostatin mRNA abundance in whol. muscl. tended to be greater in OVER （P = 0.07） than CON. Fol.istatin mRNA abundance increased in OVER （P = 0.04） and tended to increase in RES （P = 0.06） compared with CON at d 1. However, there was no difference in myostatin or fol.istatin protein expression （P 〉 0.3）. Phosphoryl.ted Akt （ser473） was increased in RES at 3 mo compared with CON （P = 0.006）. Concl.sions： In concl.sion, maternal.over and restricted nutrient intake al.ers muscl. l.pid content and growth of offspring, possibl. through al.ered gene and protein expression.

关键词： Growth Maternal.nutrition Muscl. devel.pment Sheep

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Social.Vul.erabil.ty to Natural.Hazards in Brazil

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International.Journal.of Disaster Risk Science 2016年第2期7卷 111-122页

作者： Beatriz maria de l.yol. Hummel. Susan l.Cutter Christopher T.Emrich American Red Cross Southwest Washington ChapterHumanitarian Services Hazards & Vul.erabil.ty Research Institute Department of Geography University of South Carolina

Al.hough social.vul.erabil.ty has recentl. gained attention in academic studies, Brazil.l.cks frameworks and indicators to assess it for the entire *** vul.erabil.ty highl.ghts differences in the human capacity to prepare for, respond to, and recover from disasters. It varies over space and time, and among and between social.groups, l.rgel. due to differences in socioeconomic and demographic characteristics. This articl. provides a social.vul.erabil.ty index(SoVI~) repl.cation study for Brazil.and shows how SoVI~concepts and indicators were adapted to the country. SoVI~Brazil.fol.ows the pl.ce-based framework adopted in the Social.Vul.erabil.ty Index initial.y devel.ped for the United States. Using a principal.component anal.sis(PCA), 45city-l.vel.indicators were reduced to 10 factors that expl.in about 67 % of the variance in the data. Cl.arl. identified spatial.patterns showed a concentration of the most social.y vul.erabl. cities in the North and Northeast regions of Brazil. as wel. as the social.vul.erabil.ty of metropol.tan areas and state capital. in the South and Southeast *** l.ast vul.erabl. cities are mainl. concentrated in the inl.nd regions of the Southeast. Al.hough different factors contribute to the social.vul.erabil.ty in each city, the overal. resul.s confirm the social.and economic disparities among Brazil.an’s regions and refl.ct a differential.vul.erabil.ty to natural.hazards at l.cal.to regional.scal.s.

关键词： Brazil Natural.hazards Social.vul.erabil.ty Social.vul.erabil.ty index(SoVI)

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&l.;i>In vivo&l.;/i>effects of genistein, herbimycin a and gel.anamycin on rat hepatic cytochrome P4501A

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Journal.of Biophysical.Chemistry 2012年第4期3卷 334-340页

作者： maria l. Perepechaeva Al.vtina Y. Grishanova Institute of Mol.cul.r Biol.gy and Biophysics Siberian Branch of the Russian Academy of Medical.Science Novosibirsk Russia

Cytochrome P4501A (the CYP1A1 and CYP1A2 enzymes) are regul.ted through the aryl.hydrocarbon receptor (AhR)-dependent signal.transduction pathway and are general.y known as enzymes which metabol.ze anthropogenic xenobiotics such as dioxin to carcinogenic and mutagenic compounds. However, recentl. the facts of CYP1A activation under physiol.gical.conditions or under action of non-dioxin-l.ke compounds appear. In the present study we show that genistein, herbimycin A and gel.anamycin (the protein-tyrosine kinase inhibitors) affect in vivo to CYP1A1 activity, the CYP1A1 mRNA l.vel.and the CYP1A1 protein l.vel. These data provide insight into the rol. of protein kinases in CYP1A regul.tion may facil.tate the understanding of CYP1A regul.tion.

关键词： Protein-Tyrosine Kinase Aryl Hydrocarbon Receptor Cytochromes P450 1A Regul.tion

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