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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

Phylogeny,genetics,and the partial life cycle of Oncomegas wageneri in the Gulf of Mexico

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Current Zoology 2020年第3期66卷 275-283页

作者： Andrés MARTINEZ-AQUINO Víctor M.VIDAL-MARTINEZ F.Sara CECCARELLI Oscar MENdeZ Lilia C.SOLER-JIMENEZ M.Leopoldina AGUIRRE-MACEDO Facultad de Ciencias Universidad Autonoma de Baja CaliforniaCarretera Transpeninsular 3917Fraccionamiento PlayitasEnsenadaBaja California 22860Mexico Laboratorio de Patologia Acuatica Departamento de Recursos del MarCentro de Investigacion y de Estudios Avanzados del Instituto Politecnico NacionalUnidad MeridaCordemexCarretera Antigua a Progreso Km.6MeridaYucatan 97310Mexico departamento de Biologia de la Conservacion CONACYT-Centro de Investigacion Cientifica y de Educacion Superior de EnsenadaCarretera Ensenada-TjuanaEnsenadaBaja California 22860Mexico Laboratorio de Hidrobiologia Facultad de Biologia-XalapaUniversidad VeracruzanaCircuito Gonzalo Aguirre Beltran S/N Zona UniversitariaXalapaVeracruz 91090Mexico

despite the diversity and ecological importance of cestodes,there is a paucity of studies on their life stages(i.e.,complete lists of intermediate,paratenic,and definitive hosts)and genetic *** example,in the Gulf of Mexico(GoM)98 species of cestodes have been reported to date;however,data on their intraspecific genetic variation and population genetic studies are *** trypanorhynch cestode,Oncomegas wageneri,is found(among other places)off the American Western Atlantic Coast,including the GoM,and has been reported as an adult from stingrays and from several teleost species in its larval form(as plerocerci).This study represents the first report of 2 previously unregistered definitive hosts for ***,namely the Atlantic sharpnose shark Rhizoprionodon terraenovae and the southern stingray Hypanus *** this work,partial sequences of the 28S(region D1-D2)ribosomal DNA were analyzed to include *** within an eutetrarhynchoid phylogenetic *** *** individuals(which included plerocerci and adults)were recovered as monophyletic and Oncomegas celatus was identified as the sister species of ***,population genetic analyses of *** from the southern GoM were carried out using DNA sequences of the mitochondrial cytochrome c oxi-dase subunit 1(COI)gene,which reflected high genetic variation and a lack of genetic structure among the 9 oceanographic sampling *** on these results,*** is panmictic in the southern *** extensive sampling along the species entire distribution is necessary to make more accurate inferences of population genetics of ***.

关键词： barcode Cyclopsetta chittendeni population genetics Hypanus americanus Oncomegas Rhizoprionodon terraeno-vae 28S rDNA(D1-D2)

Reactivity of Indoles through the Eyes of a Charge-Transfer Partitioning Analysis

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物理化学学报 2018年第6期34卷 692-698页

作者： OROZCO-VALENCIA Ulises GáZQUEZ José L. VELA Alberto departamento de Quimica Centro de Investigacion y de Estudios Avanzados Av. Instituto Politecnico Nacional 2508 Colonia San Pedro Zacatenco Ciudad de Mexico 07360 Mexico. departamento de Quimica Universidad Autonoma Metropolitana-Iztapalapa

A global and local charge transfer partitioning model,based on the cornerstone theory developed by Robert *** and Robert ***,which introduces two charge transfer channels(one for accepting electrons(electrophilic) and another for donating(nucleophilic)),is applied to the reaction of a set of indoles with 4,*** global analysis indicates that the prevalent electron transfer mechanism in the reaction is a nucleophilic one on the indoles,i.e.,the indoles under consideration transfer electrons to 4,*** the reactivity descriptorswith exchange-correlation functionals including exact exchange(global hybrids) yields slightly better correlations than those obtained with generalized gradient-approximated functionals;however,the trends are *** the trend obtained with the number of electrons donated by the indoles,and predicted by the partitioning model,with that observed experimentally based on the measured rate constants,we propose that the number of electrons transferred through this channel can be used as a nucleophilicity scale to order the reactivity of indoles towards 4,*** approach to obtain reactivity scales has the advantage of depending on the intrinsic properties of the two reacting species;therefore,it opens the possibility that the same group of molecules may show different reactivity trends depending on the species with which they are *** local model allows systematic incorporation of the reactive atoms based on the their decreasing condensed Fukui functions,and the correlations obtained by increasing the number of reactive atoms participating in the local analysis of the transferred nucleophilic charge improve,reaching an optimal correlation,which in the present case indicates keeping three atoms from the indoles and two from 4,*** atoms selected by this procedure provide valuable information about the local reactivity of the indoles.W

关键词： Chemical reactivity Conceptual DFT Charge transfer Nucleophilicity Indoles Transition state prediction

The Genome of Cucurbita argyrosperma (Silver- Seed Gourd) Reveals Faster Rates of Protein- Coding Gene and Long Noncoding RNA Turnover and Neofunctionalization within Cucurbita

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Molecular Plant 2019年第4期12卷 506-520页

作者： Josue Barrera-Red on do Enrique Ibarra-Laclette Alejandra Vazquez-Lobo yocelyn T. Gutierrez-Guerrero Guillermo Sanchez de la Vega Daniel Pinero Salvador Montes-Hernandez Rafael Lira-Saade Luis E. Eguiarte departamento de Ecologia Evolutiva Instituto de Ecologia Universidad Nacional Aut6noma de Mexico Circuito Exterior s/n Anexo al Jardin Bot合nico 04510 Ciudad de Mexico Mexico departamento de estudios Moleculares avanzados Instituto de Ecologia A.C. Carretera Antigua a Coatepec No. 351 Col. El Haya. C.P. Xalapa Veracruz 91070 Mexico centro de investigaciones en Biodiversidad y Conservacion Universidad Autdnoma del Estado de Morelos Av. Universidad 1001 Col. Chamilpa Cuernavaca Morelos 62209 Mexico Campo Experimental Bajio Instituto Nacional de In vestigaciones Forestales Agricolas y Pecuarias (INIFAP) Km 6.5 Carretera Celaya-San Miguel de Allen de Celaya Guanajuato 38110 Mexico UBIPRO Facultad de Estudios Superiores Iztacala Universidad Nacional Autdnoma de Mexico Av. de los Barrios #1 Col. Los Reyes Iztacala Tlanepantla Edo. de Mex 54090 Mexico

Whole-genome duplications are an important source of evolutionary novelties that change the mode and tempo at which genetic elements evolve within a genome. The Cucurbita genus experienced a wholegenome duplication around 30 million years ago, although the evolutionary dynamics of the coding and noncoding genes in this genus have not yet been scrutinized. Here, we analyzed the genomes of four Cucurbita species, in eluding a newly assembled genome of Cucurbita argyrosperma, and compared the gene con tents of these species with those of five other members of the Cucurbitaceae family to assess the evolutionary dynamics of protein-coding and long intergenic noncoding RNA (lincRNA) genes after the genome duplication. We report that Cucurbita genomes have a higher protein-coding gene birth-death rate compared with the genomes of the other members of the Cucurbitaceae family. C. argyrosperma gene families associated with pollination and transmembrane transport had significantly faster evolutionary rates. lincRNA families showed high levels of gene turnover throughout the phylogeny, and 67.7% of the lincRNA families in Cucurbita showed evidence of birth from the neofunctionalization of previously existing protein-coding genes. Collectively, our results suggest that the whole-genome duplication in Cucurbita resulted in faster rates of gene family evolution through the neofunctionalization of duplicated genes.

关键词： Cucurbita argyrosperma, comparative genomics molecular evolution neofunctionalization long noncoding RNA whole-genome duplication

Trehalose and Sucrose Osmolytes Accumulated by Algae as Potential Raw Material for Bioethanol

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Natural Resources 2011年第3期2卷 173-179页

作者： Ma.del Pilar Bremauntz Luis G.Torres-Bustillos Rosa-Olivia Canizares-Villanueva Enrique Duran-Paramo Luis Fernández-Linares Laboratory of Bioprocesses Department of BioprocessesUnidad Profesional Interdisciplinaria de Biotecnologia UPIBI-Instituto Politecnico NacionalMexico CityMexico departamento de Biotecnologia y Bioingenieria Centro de Investigacion y de Estudios Avanzados-IPNMexico CityMexico

Currently, obtaining sustainable fuels, such as biodiesel and bioethanol, from cheap and renewable materials is a challenge. In recent years, a new approach being developed consists of producing, sugars from algae by photosynthesis. Sugar accumulation can be increased under osmotic stress (osmoregulation). The aim of this study is to show the pro-duction of sugars from algae, isolated from natural sources, and the effect of osmotic stress on fermentable sugars ac-cumulation. Strain isolation, production of sugars from each alga and the effect of osmotic stress on growth and sugar production are described. Twelve algal strains were isolated, showing growths between 0.6 and 1.8 g of biomass dry weight /L, all with production of intracellular and extracellular sugars. The strain identified as Chlorella sp. showed an increase in sugar production from 23.64 to 421 mg of sugars/g of biomass dry weight after 24 h of osmotic stress with 0.4 M NaCl. Sucrose and trehalose, both fermentable sugars, were the compatible osmolytes accumulated in response to the osmotic stress. The isolated strains are potential producers of fermentable sugars, using the photosynthetic pathway and osmotic stress.

关键词： Algae Biofuels Osmoregulators Carbohydrates Bioethanol

Differential Effects of Valproic Acid on Immobility Responses and Locomotor Activity in Female and Male Rats

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Pharmacology & Pharmacy 2017年第10期8卷 339-353页

作者： Oscar Morales-Dionisio Fidel de la Cruz Margarita Franco-Colin Oriana Hidalgo-Alegria Gonzalo Flores JoseLuna-Munoz Linda Garces-Ramirez departamento de Fisiologia Escuela Nacional de Ciencias BiologicasInstituto Politecnico NacionalCiudad de MexicoMexico Laboratorio de Neuropsiquiatria Instituto de FisiologiaBenemerita Universidad Autonoma de PueblaPueblaMexico departamento de Fisiologia Biofisica y NeurocienciasCentro de Investigacion de Estudios Avanzados del InstitutoPolitecnico NacionalCiudad de MéxicoMexico

Valproic acid (VPA) is used in the treatment of epilepsy and behavioral disorders. However, the exposure to VPA during pregnancy increases the risk of having offspring with autism spectrum disorder (ASD). Reports indicate that men are more likely to suffer ASD than women who were exposed to VPA prenatally. Few studies have related the sex differences and behavioral changes in the ASD rat model. Our aim was to determinate whether male and female Wistar rats whose mothers were exposed to either VPA (600 mg/kg;animal model for ASD) or saline (0.9%) i.p. at 12.5 day of gestation, have different effects on immobility induce by clamping (IC), dorsal immobility (DI), catalepsy, locomotor activity, stereotypes, and analgesia (tail flick). For this purpose, we made four groups (n = 8). Group: A) saline male rats, B) saline female rats, C) VPA male rats and D) VPA female rats. At 35 (prepubertal age), 56 (postpubertal age) and 180 days, we tested the behaviors previously mentioned. Finding that VPA has the same effect on IC, catalepsy, and analgesia in male and female rats, the time of these tests was increased. However, VPA only has an effect on DI in males but not in female rats. On the contrary, there is hyperactivity and an increase of stereotypes in female but not in male rats. Thereby, VPA has an effect on the three immobility responses tested (IC, DI and catalepsy), locomotor activity and analgesia but in a differential way on DI, stereotypes and locomotor activity between male and female rats.

关键词： Autism Immobility Responses Animal Model for ASD Locomotor Activity Valproic Acid

Properties of Chemical Bath deposited PbS Thin Films Doped with Cd2＋

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材料科学与工程（中英文A版） 2011年第6期1卷 759-767页

作者： Oscar Portillo Moreno Melissa Chavez Portillo Miriam Moreno Flores Javier Martinez Juarez Gustavo Abarca Avila Rosendo Lozada Morales Orlando Zelaya Angel Facultad de Ciencias Quimicas BUAP C. U. Puebla Mexico CIDS-ICUAP C. U. Puebla Mexico Facultad de Ciencias Fisicomatematicas BUAP C. U. Puebla Mexico departamento de fisiea Centro de Investigacion y de Estudios Avanzados Av. IPN 2508 Col San Pedro Zacatenco Mexico

Characterization of Chemical Bath deposited CdSe Thin Films Doped with S^2-

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材料科学与工程（中英文B版） 2011年第5期1卷 657-666页

作者： Jorge Indalecio Contreras Rascon Oscar Portillo Moreno Gustavo Abarca Avila Jorge R. Cerna Juan Hernandez Tecorralco Javler Martinez Juare Rosendo Lozada Morales Orlando Zelaya Angel CIDS-ICUAP Benemerita Universidad Autonoma de Puebla 14 Sur y Av. Sn. Claudio Col. Sn. Manuel Puebla Pue. Mexieo Facultad de Ciencias Quimicas Benemerita Universidad Autonoma de Puebla 14 Sur y Av. Sn. Claudio Col. Sn. Manuel Puebla Pue. Mexico Facultad de Ciencias Fisicomatematicas Postgrado en Optoelectroniea Benemerita Universidad Autonoma de Puebla 14 Sur y A v Sn. Claudio Col. Sn. Manuel Puebla Pue. Mexico departamento de fisiea del centro de investigacion y de estudios avanzados del ipn 07360 Mexico D. F. Mexico

Recombinant protein detection and its content in total protein, lipids and toxic antinutritional substances in Mexican maize

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Health 2013年第10期5卷 9-13页

作者： Pena Betancourt Silvia denise Posadas Manzano Eduardo Valladares Carranza Benjamin Laboratorio de Toxicologia Departamento de Produccion Agricola y AnimalUAM-XochimilcoMexicoD.F.Mexico departamento de Rumiantes Facultad de Medicina Veterinaria y Zootecnia UNAMMexicoD.F.Mexico 3Centro de Investigacion y Estudios avanzados en salud animalFMVZ-UAEMMexico

The engineering genetic technology has developed Bt maize events which contain recombinant protein that will be safe for the consumer. The aflatoxins are contaminants present in maize capable of producing cancer and decreasing the immune response in human, additionally contained polyphenols compounds considered non nutritive. The objective of this study was to identify the presence of recombinant protein in hybrid and local varieties of corn and evaluate the content of aflatoxins and tannins. 25 samples of white grain maize for human consumption were collected, 12 were for hybrid maize and 13 local varieties, from the states of Hidalgo, Mexico and Morelos. Samples were analyzed for Cry1Ab/Cry1Ac, using lateral flow strip method, crude protein and lipids by standard methods. Aflatoxins were assessed by comercial Elisa kit and tannins by spectroscopy method. The data were grouped in a completely random model and an analysis of variance was performed. The results indicated that 44.5% of hybrid corn was positive by Bt-Cry1Ab/1Ac proteins, containing 9.02% ± 2.5 lipids and 11.33% ± 2.2 crude protein, 189 ± 0.92 mg/g of tannins and 6.36 ± 3.3 μg·g-1 aflatoxins. The local maize samples (55.5%) were negative to Bt-Cry1Ab/ Cry1Ac, which protein content was of 8.68% ± 0.90, 6.14% lipids ± 2.3, 273 ± 0.40 mg/100g tannin and 7.15 ± 3.3 μg·g-1 of aflatoxins. In conclusion, we observed an improvement of nutrient composition in hybrid maize with Bt proteins, and decrease in tannins content comparing with some local varieties without Bt proteins. The effectiveness of Bt maize expressing the Cry1Ab/ Cry1Ac in reducing aflatoxin contamination was not observed, therefore, additive affects of aflatoxins contamination in maize Bt-Cry need to be further investigated in cancer disease development.

关键词： Transgenic Maize Mycotoxins Safety Toxicants Anti-Nutritional Protein