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Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple:A case report

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World Journal of Clinical Cases 2021年第29期9卷 8797-8803页

作者： Adina Neumann Miguel Angel Alcantara-Ortigoza Ariadna gonzález-del Angel Nestor Alejandro Zarate Díaz javier Sam Santana Leonardo M Porchia Esther López-Bayghen Laboratorio de Investigación y Diagnóstico Molecular IngenesMexico City 05320Mexico Laboratorio de Biología Molecular Subdirección de Investigación MédicaInstituto Nacional de PediatríaMexico City 04530Mexico DNA-gEN S.C.Centro de Alta Especialidad en genética Humana Mexico City 14070Mexico Investigación Clínica IngenesPuebla 72820Mexico Departamento de Toxicología Centro de Investigación y de Estudios Avanzados del Instituto Politécnico NacionalMexico City 07360Mexico

BACKgROUND Identifying a potential single monogenetic disorder in healthy couples is costly due to the Assisted Reproduction facilities'current methodology for screening,which focuses on the detecting multiple genetic disorders at ***,we report the successful application of a low-cost and fast preimplantation genetic testing for monogenic/single gene defects(PgT-M)approach for detecting propionic acidemia(PA)in embryos obtained from a confirmed heterozygous propionyl-CoA carboxylase alpha subunit(PCCA)*** SUMMARY A fertile 32-years old Mexican couple with denied consanguinity sought antenatal genetic *** were suspected obligate PA carriers due to a previous deceased PA male newborn with an unknown PCCA/propionyl-CoA carboxylase beta subunit(PCCB)***-generation Sequencing revealed a heterozygous genotype for a pathogenic PCCA variant(c.2041-1g>T,ClinVar:RCV-000802701.1;dbSNP:rs1367867218)in both *** couple requested in vitro fertilization(IVF)and PgT-M for *** IVF,12 oocytes were collected and fertilized,of which two resulted in high-quality *** biopsies and Whole genome Amplification by a fragmentation/amplification-based method were performed and revealed that the two embryos were *** polymerase chain reaction and further Sanger sequencing of the exon-intron borders revealed a wild-type PCCA male embryo and a heterozygous c.2041-1g>T female *** embryos were transferred,resulting in a clinical pregnancy and the delivery of a healthy male newborn(38 wk,weight:4080 g,length:49 cm,APgAR 9/9).The absence of PA was confirmed by expanded newborn *** We show that using PgT-M with Whole genome Amplification templates,coupled with IVF,can reduce the transmission of a pathogenic variant of the PCCA gene.

关键词： Propionic acidemia Autosomal recessive Propionyl-CoA carboxylase alpha subunit(PCCA)gene Preimplantation genetic testing Next-generation sequencing Embryo transfer

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Bovine immunoglobulin protein isolates for the nutritional management of enteropathy

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World Journal of gastroenterology 2014年第33期20卷 11713-11726页

作者： Bryon W Petschow Anthony T Blikslager Eric M Weaver Joy M Campbell javier Polo Audrey L Shaw Bruce P Burnett gerald L Klein J Marc Rhoads Entera Health Inc. NC 27518 United States College of Veterinary Medicine North Carolina State University Raleigh NC 27607 United States APC Inc. Ankeny IA 50021 United States APC Europe S.A. Barcelona E-08403 Spain University of Texas Health Sciences Center Houston TX 77030 United States

The gastrointestinal tract is responsible for a multitude of digestive and immune functions which depend upon the balanced interaction of the intestinal microbiota, diet, gut barrier function, and mucosal immune response. Disruptions in one or more of these factors can lead to intestinal disorders or enteropathies which are characterized by intestinal inflammation, increased gut permeability, and reduced capacity to absorb nutrients. Enteropathy is frequently associated with human immunodeficiency virus(HIV) infection, inflammatory bowel disease, autoimmune enteropathy, radiation enteritis, and irritable bowel syndrome(IBS), where pathologic changes in the intestinal tract lead to abdominal discomfort, bloating, abnormal bowel function(e.g., diarrhea, urgency, constipation and malabsorption). Unfortunately, effective therapies for the management ofenteropathy and restoring intestinal health are still not available. An accumulating body of preclinical studies has demonstrated that oral administration of plasmaor serum-derived protein concentrates containing high levels of immunoglobulins can improve weight, normalize gut barrier function, and reduce the severity of enteropathy in animal models. Recent studies in humans, using serum-derived bovine immunoglobulin/protein isolate, demonstrate that such protein preparations are safe and improve symptoms, nutritional status, and various biomarkers associated with enteropathy. Benefits have been shown in patients with HIV infection or diarrhea-predominant IBS. This review summarizes preclinical and clinical studies with plasma/serum protein concentrates and describes the effects on host nutrition, intestinal function, and markers of intestinal inflammation. It supports the concept that immunoglobulin-containing protein preparations may offer a new strategy for restoring functional homeostasis in the intestinal tract of patients with enteropathy.

关键词： Immunoglobulins Plasma proteins Inflammation gut barrier Diarrhea Malabsorption Treatment Nutrition

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Antibacterial approaches in tissue engineering using metal ions and nanoparticles:From mechanisms to applications

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Bioactive Materials 2021年第12期6卷 4470-4490页

作者： Maria godoy-gallardo Ulrich Eckhard Luis M.Delgado Yolanda J.D.de Roo Puente Mireia Hoyos-Nogués F.javier gil Roman A.Perez Bioengineering Institute of Technology Universitat Internacional de CatalunyaCarrer de Josep Trueta08195del VallèsSant CugatBarcelonaSpain Proteolysis Lab Department of Structural BiologyMolecular Biology Institute of BarcelonaCSICBarcelona Science ParkBaldiri Reixac 15-2108028BarcelonaSpain

Bacterial infection of implanted scaffolds may have fatal consequences and,in combination with the emergence of multidrug bacterial resistance,the development of advanced antibacterial biomaterials and constructs is of great *** decades ago,metals and their ions had been used to minimize bacterial infection risk and,more recently,metal-based nanomaterials,with improved antimicrobial properties,have been advocated as a novel and tunable alternative.A comprehensive review is provided on how metal ions and ion nanoparticles have the potential to decrease or eliminate unwanted *** mechanisms such as oxidative stress induction,ion release and disruption of biomolecules are currently well ***,the exact antimicrobial mechanisms of the discussed metal compounds remain poorly *** combination of different metal ions and surface decorations of nanoparticles will lead to synergistic effects and improved microbial killing,and allow to mitigate potential side effects to the *** with a general overview of antibacterial mechanisms,we subsequently focus on specific metal ions such as silver,zinc,copper,iron and gold,and outline their distinct modes of ***,we discuss the use of these metal ions and nanoparticles in tissue engineering to prevent implant failure.

关键词： Metal ions Metal nanoparticles Mechanism of action Antibacterial activity Tissue engineering Biomaterials applications

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Evaluation of Ocimum basilicum *** Different Concentrations of K^(+)as an Inhibitor of Pathogenic Bacterial Strains

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Phyton-International Journal of Experimental Botany 2021年第2期90卷 533-541页

作者： Mercedes georgina Ramírez-Aragón Victoria Jared Borroel-garcía Ramón Valenzuela-Soto Ricardo David Valdez-Cepeda Francisco javier Wong-Corral JoséLuis garcía-Hernández Universidad Politécnica de gómez Palacio Gómez Palacio35120México Universidad Autónoma Chapingo Centro Regional Universitario Centro-NorteZacatecasZac.Universidad Autónoma de ZacatecasFacultad de MatemáticasZacatecas98053México Departamento de Investigación y Posgrado en Alimentos Universidad de SonoraHermosillo83000México Facultad de Agricultura y Zootecnia Universidad Juárez del Estado de DurangoGómez Palacio34000México

The extraction of bioactive compounds has become one of the most interesting areas of modern *** therapeutic reasons,it´s important to obtain antimicrobial agents from natural *** objective of the present study was to determine the inhibitory effect of ethanolic extract of basil(Ocimum basilicum *** Rubin)subjected to different concentrations of potassium(K^(+))on the activity of three bacterial strains that are pathogens in *** was evaluated by inhibition surface and these results were compared to two antibiotics:gentamicin(gE)and Ciprofloxacin(CPF)for their efficacy against each bacterial *** variables presented significant difference(p≤0.05).According to the results,basil extract evaluated showed positive antibacterial activity against the three strains of Pseudomonas aeruginosa,Listeria monocytogenes and Staphylococcus aureus on Mueller Hinton *** was observed highest inhibition areas of different diameters(15.3 mm,21.3 mm and 21.6 mm respectively)when the extract used was obtained from the plants with the highest concentration of potassium(13 mmol L-1).These values were even superior to the highest values showed on the treatments with the antibiotic gentamicin.

关键词： Basil inhibition potassium secondary metabolites antibiotics

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geothermal,Oceanic,Wildfire,Meteorological and Anthropogenic Impacts on PM_(2.5) Concentrations in the Fairbanks Metropolitan Area

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Open Journal of Air Pollution 2019年第2期8卷 19-68页

作者： Nicole Molders gilberto javier Fochesatto Stanley gene Edwin gerhard Kramm University of Alaska Fairbanks Department of Atmospheric SciencesFairbanksUSA University of Alaska Fairbanks Geophysical InstituteFairbanksUSA Council of Athabascan Tribal governments Fort YukonUSA Engineering-Meteorology-Consulting FairbanksUSA

The impacts of low and high-frequency variability from teleconnections between large scale atmospheric processes and local weather as well as emissions changes on concentrations of particulate matter of 2.5 μm or less in diameter ([PM2.5]) were examined for the Fairbanks Metropolitan Area (FMA). October to March and May to August mean [PM2.5] were 1.8 and 3.1 μg·m-3 higher for positive than negative annual mean Pacific Decadal Oscillation. Annual mean [PM2.5] were 3.8 μg·m-3 lower for positive than negative Southern Oscillation Index. On 1999-2018 average, [PM2.5] decreased 2.9 μg·m-3·decade-1. On average over October to March, decadal and inter-annual variability caused higher or similar differences in mean observed [PM2.5] and its species than emission-control measures. The 2006 implementation of Tier 2 for new vehicles decreased observed sulfate concentrations the strongest (~4.95 μg·m-3·decade-1) of all occurred emissions changes. On average, observed [PM2.5] showed elevated values at all sites when wind blew from directions of hot springs. The same was found for the sulfate, ammonium and non-metal components of PM2.5. Observations showed that these geothermal waters contain sulfate, ammonia, boric acid and non-metals. Hot springs of such composition are known to emit hydrogen sulfide and ammonia that can serve as precursors for ammonium and sulfate aerosols.

关键词： Fairbanks PM_(2.5) Problem Low Frequency Variability in PM_(2.5) Concentrations Emissions Impacts on PM_(2.5) Concentrations PM_(2.5) Speciation H_(2)S from Hot Springs

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Arsenite provides a selective signal that coordinates arsenate uptake and detoxification through the regulation of PHR1 stability in Arabidopsis

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Molecular Plant 2021年第9期14卷 1489-1507页

作者： Cristina Navarro Cristian Mateo-Elizalde Thotegowdanapalya C.Mohan Eduardo Sanchez-Bermejo Oscar Urrutia Maria Nieves Fernandez-Muniz Jose M.garcia-Mina Riansares Munoz javier Paz-Ares gabriel Castrillo Antonio Leyva Department of Plant Molecular genetics Centro Nacional de Biotecnología-Consejo Superior de Investigaciones CientíficasMadrid 28049Spain Department of Environmental Biology Sciences SchoolUniversity of NavarraPamplona 31008Spain Department of Analytical Chemistry School of Chemical SciencesUniversidad Complutense de MadridMadrid 28040Spain Present address:Department of Biotechnology and Bioinformatics Faculty of Life SciencesJSS Academy of Higher Education and ResearchMysuruKarnataka 570015India Present address:S&A Fresh Produce.Brook Farm MardenHereford HR13ETUK Future Food Beacon of Excellence&School of Biosciences University of NottinghamNottingham LE125RDUK

In nature,plants acquire nutrients from soils to sustain growth,and at the same time,they need to avoid the uptake of toxic compounds and/or possess tolerance systems to cope with *** is particularly challenging when the toxic compound and the nutrient are chemically similar,as in the case of phosphate and *** this study,we demonstrated that regulatory elements of the phosphate starvation response(PSR)coordinate the arsenate detoxification machinery in the *** showed that arsenate repression of the phosphate transporter PHT1;1 is associated with the degradation of the PSR master regulator *** arsenic is sequestered into the vacuole,PHR1 stability is restored and PHT1;1 expression is ***,we identified an arsenite responsive SKP1-like protein and a PHR1 interactor F-box(PHIF1)as constituents of the SCF complex responsible for PHR1 *** found that arsenite,the form to which arsenate is reduced for compartmentalization in vacuoles,represses PHT1;1 expression,providing a highly selective signal versus phosphate to control PHT1;1 expression in response to ***,our results provide molecular insights into a sensing mechanism that regulates arsenate/phosphate uptake depending on the plant’s detoxification capacity.

关键词： arsenic signaling F-box protein arsenate uptake arsenic detoxification phosphate starvation phytoremediation

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Process for the Obtention of Coumaric Acid from Coumarin: Analysis of the Reaction Conditions

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Advances in Chemical Engineering and Science 2013年第3期3卷 195-201页

作者： Néstor N. López-Castillo Alma D. Rojas-Rodríguez Brenda M. Porta M. javier Cruz-gómez Chemical Engineering Department of the Faculty of Chemistry Universidad Nacional Autónoma de México (UNAM) Coyoacan D. F. México México

Coumaric acid can be obtained from basic hydrolysis of coumarin, through a reaction process consisting on opening the lactone ring and cis-trans isomerization. Parameters such as reaction time, temperature, NaOH concentration, solvent and reaction atmosphere, have been thoroughly studied and analyzed, in order to determine the appropriate conditions for the maximum conversion efficiency of coumarin into coumaric acid. Experimental results show that the best conditions are a 1 hour reaction time, at 160℃, with a 20% sodium hydroxide aqueous solution, and in an inert reaction atmosphere.

关键词： Coumarin Coumaric Acid Ester Hydrolysis

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Endogenous Norepinephrine Desensitizes α_1D-Adrenoceptors in Cultured Rat Aorta

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Journal of Biosciences and Medicines 2023年第10期11卷 168-180页

作者： Itzell Alejandrina gallardo-Ortíz Jesús David gómez-Rodríguez Juan javier López-guerrero Santiago C. Sigrist-Flores Rafael Villalobos-Molina Unidad de Biomedicina Facultad de Estudios Superiores Iztacala Universidad Nacional Autónoma de México Tlalnepantla México Carrera de Enfermería Facultad de Estudios Superiores Iztacala Universidad Nacional Autónoma de México Tlalnepantla México Ciencias de la Salud Unidad Xochimilco Universidad Autónoma Metropolitana Ciudad de México México Carrera de Médico Cirujano Facultad de Estudios Superiores Iztacala Universidad Nacional Autónoma de México Tlalnepantla México

Desensitization is a process characterized by the loss of cellular response to an agonist when this is present for a long time. α1D-adrenergic receptor (α1D-AR) desensitization is important since this receptor is involved in the contraction of large caliber arteries, such as the aorta. The aim of this research was to evaluate the desensitization of α1D-AR due to the endogenous release of norepinephrine in cultured rat aorta. Wistar rat aorta was incubated for 2 h or 24 h in DMEM at 37°C, and then subjected to isometric tension and the action of added norepinephrine, in concentration-response curve (CRC). In some experiments, BMY-7378 (α1D-AR antagonist) or 5-methylurapidil (α1A-AR antagonist) was used to identify the α1-AR involved in the response, or BMY-7378 to protect the α1D-AR from desensitization. Results showed that α1D-AR was desensitized when the aorta was incubated for 24 h, since the CRC to exogenous norepinephrine showed lower maximal contraction and the curve was displaced to the right, indicating that the receptor involved in contraction was not the α1D-AR, as compared to the aorta incubated 2 h. The receptor stimulated by norepinephrine at 24 h was neither the α1A-AR, as shown by the lack of displacement of the curve by 5-methylurapidil, but rather it seems that α1B-AR is inducing contraction. When the aorta was incubated with BMY-7378 for 24 h, the α1D-AR antagonist protected the receptor from desensitization. Endogenous norepinephrine desensitizes α1D-AR in the cultured aorta, and the α1D-AR is protected by BMY-7378.

关键词： Desensitization Norepinephrine α1D-Adrenergic Receptor BMY-7378 Rat Aorta

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Identification and heterologous expression of the globomycin biosynthetic gene cluster

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Synthetic and Systems Biotechnology 2023年第2期8卷 206-212页

作者： Daniel Oves-Costales Tetiana gren Eva Baggesgaard Sterndorff Jesús Martín Francisco javier Ortiz-Lopez Tue S.Jørgensen Xinglin Jiang Fernando Roman-Hurtado Fernando Reyes Olga genilloud Tilmann Weber Fundacion MEDINA Centro de Excelencia en Investigaci´on de Medicamentos Innovadores en AndalucíaAvda del Conocimiento 3418016ArmillaGranadaSpain The Novo Nordisk Foundation Center for Biosustainability Technical University of DenmarkKemitorvetbuilding 2202800 Kgs.LyngbyDenmark

globomycin is a cyclic lipodepsipeptide originally isolated from several Streptomyces species which displays strong and selective antibacterial activity against gram-negative *** mode of action is based on the competitive inhibition of the lipoprotein signal peptidase II(LspA),which is absent in eukaryotes and considered an attractive target for the development of new *** its interesting biological properties,the gene cluster encoding its biosynthesis has not yet been *** this study we employed a genome-mining approach in the globomycin-producing Streptomyces ***-278952 to identify a candidate gene cluster responsible for its biosynthesis.A null mutant was constructed using CRISPR base editing where production was abolished,strongly suggesting its involvement in the *** putative gene cluster was then cloned and heterologously expressed in Streptomyces albus J1074 and Streptomyces coelicolor M1146,therefore unambigu-ously linking globomycin and its biosynthetic gene *** work paves the way for the biosynthesis of new globomycin derivatives with improved pharmacological properties.

关键词： globomycin Signal peptidase II Cyclic lipodepsipeptide genome mining CRISPR-cBEST Heterologous expression

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Exploring the Effects of Land-Cover Configuration, Body Size and Trophic Diversity on the Avifauna Richness of Prince Edward Island, Canada

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Open Journal of Ecology 2019年第7期9卷 216-237页

作者： Marina Silva-Opps Joshua Mailhiot Sheldon B. Opps javier Sanchez University of Prince Edward Island Charlottetown Canada Canadian Wildlife Service Environmental Stewardship Branch Environment Canada Mount Pearl Canada Atlantic Veterinary College University of Prince Edward Island Charlottetown Canada

We explored the effects of land-cover configuration, body size and trophic diversity in determining avian species richness on Prince Edward Island, Canada. Data on avian species richness were obtained from the Maritime Breeding Bird Atlas data. Prince Edward Island was divided into 97 sampling cells of 10 × 10 km. Land-cover metrics were calculated using a forest inventory database, Fragstats and ArcView version 8.1. The relationships between avian species richness and explanatory variables were explored using correlation analysis, mixed forward-backward stepwise analysis, generalized linear models and Akaike’s information criterion. Models predicted between 27% and 63% of the variability in species richness, attributing substantial explanatory power to both the average body size and the range of body size spanned by the avian community. The body-size frequency distribution showed that avian communities were dominated by species weighing between 50 and 80 g. Habitat metrics associated with forests were more important to the avifauna than those related to agriculture. Avian species richness also decreased with both the fragmentation and isolation of wetlands. The total area covered by the human infrastructure land-cover and its subdivision were also important. Clearly, body size plays a key role in determining the diversity of birds on Prince Edward Island. In particular, species weighing 50 - 80 g appear to have sufficient resources to be successful on Prince Edward Island’s landscapes. Our findings also highlighted the importance of controlling the expansion of human infrastructure and both the fragmentation and reduction in size of wetlands to maintain avian species richness patterns.

关键词： Species Richness Body Size Birds Spatial Variation Land-Cover Structure Habitat Fragmentation

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