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Current status of the genetic susceptibility in attenuated adenomatous polyposis

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World Journal of Gastrointestinal Oncology 2019年第12期11卷 1101-1114页

作者： Víctor Lorca Pilar Garre laboratorio de Oncología molecular Grupo de Investigación Clínica y Traslacional en OncologíaHospital Clínico San CarlosMadrid 28040Spain laboratorio de Oncología molecular Servicio de OncologíaHospital Clínico San CarlosMadrid 28040Spain

Adenomatous polyposis(AP)is classified according to cumulative adenoma number in classical AP(CAP)and attenuated AP(AAP).Genetic susceptibility is the major risk factor in CAP due to mutations in the known high predisposition genes APC and ***,the contribution of genetic susceptibility to AAP is lower and less *** predisposition genes have been recently proposed,and some of them have been validated,but their scarcity hinders accurate risk estimations and prevalence *** is a heterogeneous condition in terms of severity,clinical features and ***,clinicians do not have strong discriminating criteria for the recommendation of the genetic study of known predisposition genes,and the detection rate is *** and knowledge of new AAP high predisposition genes are of great importance to offer accurate genetic counseling to the patient and family *** review aims to update the genetic knowledge of AAP,and to expound the difficulties involved in the genetic analysis of a highly heterogeneous condition such as AAP.

关键词： Attenuated adenomatous polyposis Genetic susceptibility High predisposition gene Genetic heterogeneity Colorectal cancer

Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

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World Journal of Clinical Cases 2019年第23期7卷 4029-4035页

作者： Adina Neumann Miguel Angel Alcantara-Ortigoza Ariadna Gonzalez-del Angel Felipe Camargo-Diaz Esther Lopez-Bayghen laboratorio de Investigacion y Diagnostico molecular Instituto de Infertilidad y Genetica Mexico SCINGENESMexico City 05320Mexico Instituto Nacional de Pediatria Torre de InvestigacionMexico City 04530Mexico laboratorio de Biologia molecular Departamento de Genetica HumanaInstituto Nacional de PediatriaMexico City 04530Mexico departamento de Toxicologia Centro de Investigacion y de Estudios Avanzados del Instituto Politecnico Nacional(CINVESTAV-IPN)Mexico City 07360Mexico

BACKGROUND Laron syndrome(LS)is an autosomal recessive hereditary condition affecting only 1/1000000 *** cause is associated with mutations in the growth hormone(GH)receptor(GHR),leading to GH *** patients typically present with severe growth retardation,obesity,and abnormal sexual ***,LS diagnosis is performed ***,we assessed the efficiency of Pre-implantation Genetic Testing(PGT)coupled with monoplex-polymerase chain reaction(PCR)technology for detecting this monogenic disease in embryos from a couple confirmed as LS heterozygous carriers CASE SUMMARy The couple LS-carriers were confirmed by the presence of a first child born with *** couple underwent a standard in vitro fertilization(IVF)*** was collected from trophectoderm cells from day 5 *** genome amplification(WGA)was performed using a Sureplex DNA Amplification System and analyzed by PCR,targeting the deletion of the exons 5 and 6 in the GHR gene as well as PGT by Next-generation Sequencing(Illumina).Eleven embryos were collected and analyzed.27.3%were the wild type for GHR,45.5%were heterozygotes,and 18.2%homozygous *** embryo yielded no *** 2-embryos transfers were performed;2 normal homozygous and four heterozygous carriers were selected for *** first two transfers were unsuccessful,whereas the final transfer with two heterozygous embryos resulted in clinical *** genomic composition of the fetus was verified,applying the same techniques using amniocytes,extracted after 21 wk of the ongoing *** fetus was confirmed as GHR deletion in exon 5-6,carrier.A non-affected baby was *** Here,we present a case demonstrating that using WGA as a template in addition to PCR targeting specific gene regions,exons 5 and 6 on the GHR gene,could identify LS carrier *** provides evidence that WGA and PCR serve as an excellent tool to detect this specific monogenic disease in IVF e

关键词： Growth hormone insensitivity Growth hormone receptor mutations Intragenic deletions molecular diagnosis Embryo diagnosis Laron syndrome Case report

High-throughput metabarcoding of SAR11 assemblages from the southwest Atlantic shelf and arid Patagonia:richness and associated rank abundance distributions

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Quantitative Biology 2023年第3期11卷 332-342页

作者： Leandro R.Jones Julieta M.Manrique laboratorio de Virología y Genética molecular Universidad Nacional dela Patagonia San Juan BoscoTrelew CP 9100Argentina

Background:Massively parallel sequencing of environmental DNA allows microbiological studies to be performed in greater detail than was possible with first-generation *** example,it facilitates the use of approaches hitherto largely applied to flora and fauna,such as rank abundance distribution(RAD)***:Here,we set out to advance the knowledge on ***(SAR11)communities from southern South America using environmental sequences from the open ocean in the Argentine sea,the uncharted Engaño Bay,as well as a river and an oligohaline shallow lake from the Patagonian Steppe *** structures of the SAR11 assemblages present in these ecosystems were dissected by direct and rarefaction-based estimates of species richness,and evaluations of the corresponding abundance distributions(ADs),which was addressed by RAD ***:Microbial community composition analyses revealed that the studied SAR11 assemblages coexist with 27 bacterial ***11 richness was in general very high,but ADs turned out to be highly *** results were compatible with prior knowledge,and similar to that derived from point estimates of ***,our comprehensive dissection allowed for more detailed quantitative comparisons to be made between the environments surveyed,and revealed differences regarding both richness and the underlying ***:despite SAR11 assemblages being extremely rich,their ADs are very *** and ADs can vary,not only between fresh and salt water,but also between oceanic and coastal marine *** obtained results provide insights on general topics such as adaptation and the contrast between marine and freshwater radiations.

关键词： SAR11 richness species abundance distribution rank abundance distribution Patagonia Argentina

Enhancing survival, engraftment, and osteogenic potential of mesenchymal stem cells

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World Journal of Stem Cells 2019年第10期11卷 748-763页

作者： Daniel García-Sánchez Darío Fernández JoséC Rodríguez-Rey Flor M Pérez-Campo department of molecular Biology Faculty of MedicineUniversity of CantabriaCantabria 39011Spain laboratorio de Biología Celular y molecular Facultad de OdontologíaUniversidad Nacional del NordesteCorrientes W3400Argentina Consejo Nacional de Investigaciones científicas y Técnicas Ciudad de CorrientesCorrientes W3400Argentina

Mesenchymal stem cells(MSCs)are promising candidates for bone regeneration therapies due to their plasticity and easiness of ***-based treatments are generally considered a safe procedure,however,the long-term results obtained up to now are far from *** main causes of these therapeutic limitations are inefficient homing,engraftment,and osteogenic *** studies have proposed modifications to improve MSC engraftment and osteogenic differentiation of the transplanted *** strategies are aimed to improve cell resistance to the hostile microenvironment found in the recipient tissue and increase cell survival after *** strategies could range from a simple modification of the culture conditions,known as cell-preconditioning,to the genetic modification of the cells to avoid cellular *** efforts have also been done in order to enhance the osteogenic potential of the transplanted cells and induce bone formation,mainly by the use of bioactive or biomimetic scaffolds,although alternative approaches will also be *** review aims to summarize several of the most recent approaches,providing an up-to-date view of the main developments in MSCbased regenerative techniques.

关键词： Mesenchymal stem cells Bone regeneration Hypoxia Anoikis Preconditioning Bioactive scaffolds Senescence Engraftment Homing Osteogenesis

Classical olfactory conditioning promotes long-term memory and improves odor-cued flight orientation in the South American native bumblebee Bombus pauloensis

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Current Zoology 2021年第5期67卷 561-563页

作者： denise NERy Florencia PALOTTINI Walter M.FARINA laboratorio de Insectos Sociales Departamento de Biodiversidad y Biologia ExperimentalFacultad de Ciencias NaturalesUniversidad de Buenos AiresBuenos AiresArgentina Instituto de Fisiologia Biologia Molecular y Neurociencias(IFIBYNE)CONICET-Universidad de Buenos AiresBuenos AiresArgentina

When collecting a flower,bumblebees learn to associate floral features with reward,preferring,and specializing in the most profitable ones they visit(Chittka et al.1999).The proboscis extension reflex(PER)occurs naturally in the feeding context allowing individuals to access the floral *** controlled conditions,the PER paradigm is a well-established controlled learning procedure used in honeybees(Takeda 1961),and some bumblebees of the genus Bombus(Laloi et al.1999).The assessment of cognitive capacities in an operant context has been studied mainly in *** and ***(Chittka 1998;Mirwan and Kevan 2014).However,little is known about the ability to evoke associative memories in an operant context,which had been acquired in a classical *** turn,on the contrary,the Bombus genus also has the capacity to form longterm memories(Chittka 1998;McAulay et al.2015).In particular,the South American bumblebee ***(***)can learn a pure odor when it is presented in a paired association with a sugar reward within a PER paradigm(Palottini et al.2018).As other species,this one is a commercially reared pollinator that is increasingly managed in pollination services of some South American countries and they could be important for increasing production of crops(Palottini et al.2018).

关键词： crops sugar associative

Progesterone for the treatment of central nervous system disorders: the many signaling roads for a single molecule

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Neural Regeneration Research 2020年第10期15卷 1846-1847页

作者： Susana Laura González Universidad de Buenos Aires Facultad de Medicina Departamento de Bioquímica Humana Buenos Aires laboratorio de Nocicepción y Dolor Neuropático Instituto de Biología y Medicina Experimental

Central nervous system(CNS)injuries and neurodegenerative diseases show a broad spectrum of common pathophysiological processes,including oxidative stress,neuroinflammation,excitotoxicity,demyelination and neurotransmission *** the past decades,valuable experimental investigations have helped to clarify the role and timing of these multiple molecular and cellular mechanisms in each of these particular disorders,which usually overlap and critically contribute to long-term ***,up to now,no definite cures or effective disease-modifying therapies are available for any of these *** has led to an active search of novel therapeutic approaches,including the repositioning of existing drugs for new indications,as a valid approach to promptly move candidate molecules to clinical trials.

关键词： injuries disorders drugs

Screening chloroplast regions in Calophyllum brasiliense (Calophyllaceae) for suitability for population genetic analyses

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Journal of Forestry Research 2018年第4期29卷 978-985页

作者： Cecilia B. Percuoco Lucas G. Gimenez Liliana N. Talavera Stefani Jorge V. Crisci Carina F. Argüelles laboratorio GIGA Instituto de Biologia Subtropical Nodo Posadas Universidad Nacional de Misiones (UNaM) Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET) Jujuy 1745 N3300NFK Posadas Misiones Argentina Catedra de Genetica molecular Facultad de Ciencias Exactas Quimicas y Naturales (FCEQyN) Universidad Nacional de Misiones (UNaM) Felix de Azara 1552 N3300LQH Posadas Misiones Argentina laboratorio de Sistematica y Biologia Evolutiva (LASBE) Facultad de Ciencias Naturales y Museo (FCNyM) Universidad Nacional de La Plata-(UNLP) Avenida 122 y 60 1900 La Plata Buenos Aires Argentina

The uniparental inheritance and conserved structure of the chloroplast genome among many angiosperms makes it suitable for constructing gene lineages and inferring population histories based on these relationships. However, the analysis of a single chloroplast region to solve population issues has not yielded the desired amount of variability due to the low mutation rate. Therefore, it is necessary to screen and carefully analyze chloroplast intergenic or intronic regions to select the most appropriate for studying the genetic variability in the chloroplast genome of a particular taxon. In this context, the aim of this work was to characterize 8 regions in Calophyllum brasiliense using 11 selected primer pairs and to evaluate their usefulness for phylogeographic analysis. Intergenic spacers petA-psbJ, petG-trnP and rp132-trnL and the trnL intron demonstrated potentially informative sites. The combination of these 4 regions will allow the analysis of genetic population structure and the integration of historical aspects to inform strategies for conserving C. brasiliense, especially for highly impacted populations and those at risk of local extinction.

关键词： cpDNA cpSSRs Noncoding regions

In Silico Analysis of the Cross-Reactivity of Pacific White Shrimp (Litopenaeus vannamei) Allergens with Other Arthropod Species

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Open Journal of Immunology 2022年第1期12卷 15-39页

作者： Axel Soto-Muñoz Rossanna Rodríguez-Canul laboratorio de inmunología y Biología molecular Departamento de Recursos del Mar Centro de Investigación y de Estudios Avanzados del IPN Mérida México

This study provided new data in the area of cross-reactivity for Pacific white shrimp (Litopenaeus vannamei). Although the cross-reactivity between the most prominent allergenic proteins of shrimp and other crustaceans has been extensively studied, few data are showing the frequency of arthropod-shrimp Litopenaeus vannamei cosensitization in an in silico analysis. A comparative analysis of “typical and non-typical” shrimp L. vannamei allergens with other species was achieved, revealing new allergens and previously characterized shrimp allergens, which validated the comprehensive identification approach used in this study. Importantly, up to 192, amino acid sequences were identified that had matches to shrimp L. vannamei allergens that matched allergenic proteins in mites, insects, fish, bacteria, mammals, birds, and plants.

关键词： Allergens Litopenaeus vannamei Allergenicity Immunoglobulin E Food Allergy

Intestinal Ca2+ absorption revisited: A molecular and clinical approach

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World Journal of Gastroenterology 2020年第24期26卷 3344-3364页

作者： Vanessa A Areco Romina Kohan Germán Talamoni Nori G Tolosa de Talamoni María E Peralta López laboratorio“Dr.Fernando Canas” Cátedra de Bioquímica y Biología MolecularFacultad de Ciencias MédicasINICSA(CONICET-Universidad Nacional de Córdoba)Córdoba 5000Argentina

Ca2+has an important role in the maintenance of the skeleton and is involved in the main physiological *** homeostasis is controlled by the intestine,kidney,bone and parathyroid *** intestinal Ca2+absorption occurs mainly via the paracellular and the transcellular *** proteins involved in both ways are regulated by calcitriol and other hormones as well as dietary *** growth factor 23(FGF-23)is a strong antagonist of vitamin D *** of the intestinal Ca2+movement seems to be vitamin D *** Ca2+absorption changes according to different physiological *** is promoted under high Ca2+demands such as growth,pregnancy,lactation,dietary Ca2+deficiency and high physical *** contrast,the intestinal Ca2+transport decreases with *** stress inhibits the intestinal Ca2+absorption whereas the antioxidants counteract the effects of prooxidants leading to the normalization of this physiological *** pathologies such as celiac disease,inflammatory bowel diseases,Turner syndrome and others occur with inhibition of intestinal Ca2+absorption,some hypercalciurias show Ca2+hyperabsorption,most of these alterations are related to the vitamin D endocrine *** research work should be accomplished in order not only to know more molecular details but also to detect possible therapeutic targets to ameliorate or avoid the consequences of altered intestinal Ca2+absorption.

关键词： Ca2+absorption Transcellular pathway Paracellular pathway Hormones Dietary calcium Physiological conditions Pathological alterations