157 research outputs found

    ¿Cómo encontrar la intertextualidad?

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    Reseña del libro Cynthia Araceli Ramírez Peñaloza y Francisco Javier Beltrán Cabrera (coords.), Intertextualidad y lírica: muestra de autores mexicanos, Toluca, UAEM, 2012

    Poemas

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    Poema

    Poemas

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    Poema

    Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice

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    Spinal muscular atrophy (SMA) is an autosomal recessive degenerative motor neuron disease characterized by symmetrical muscle weakness and atrophy of limb and trunk muscles being the most severe genetic disease in children. In SMA mouse models, motor nerve terminals display neurotransmitter release reduction, endocytosis decrease and mitochondria alterations. The relationship between these changes is, however, not well understood. In the present study, we investigated whether the endocytosis impairment could be related to the functional alteration of the presynaptic mitochondria during action potential (AP) firing. To this aim, we generated a Synaptophysin-pHluorin (SypHy) transgenic mouse, crossed it with Taiwanese SMA mice, and recorded exo- and endocytosis and mitochondria Ca2+ signaling in real-time at ex vivo motor nerve terminals of Taiwanese-SypHy mice. The experiments were performed at the beginning of the motor symptoms to get an integrated view of the nerve terminal’s functional state before degeneration. Our electrophysiological and live imaging results demonstrated that the mitochondria’s capacity to increase matrix-free Ca2+ in SMA mice was significantly limited during nerve AP firing, except when the rate of Ca2+ entry to the cytosol was considerably reduced. These results indicate that both the mitochondrial Ca2+ signaling alterations and the secretion machinery defects are significant players in the dysfunction of the presynaptic terminal in SMA

    Draft Genome Sequence and Gene Annotation of <i>Stemphylium lycopersici</i> Strain CIDEFI-216

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    Stemphylium lycopersici is a plant-pathogenic fungus that is widely distributed throughout the world. In tomatoes, it is one of the etiological agents of gray leaf spot disease. Here, we report the first draft genome sequence of S. lycopersici, including its gene structure and functional annotation.Facultad de Ciencias Agrarias y Forestale

    Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

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    Co-occurrent mutations; Germline mutation; PheochromocytomaMutaciones concurrentes; Mutación de la línea germinal; FeocromocitomaMutacions concurrents; Mutació de la línia germinal; FeocromocitomaIntroduction: The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes. Methods: Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing. We studied the molecular characteristics of the tumours with co-occurrent mutations, using omic tools to gain insight into the role of these events in tumour development. Results: Amongst 23 patients carrying germline NF1 mutations, targeted sequencing revealed additional pathogenic germline variants in DLST (n=1) and MDH2 (n=2), and two somatic mutations in H3-3A and PRKAR1A. Three additional patients, with somatic mutations in NF1 were found carrying germline pathogenic mutations in SDHB or DLST, and a somatic truncating mutation in ATRX. Two of the cases with dual germline mutations showed multiple pheochromocytomas or extra-adrenal paragangliomas - an extremely rare clinical finding in NF1 patients. Transcriptional and methylation profiling and metabolite assessment showed an “intermediate signature” to suggest that both variants had a pathological role in tumour development. Discussion: In conclusion, mutations affecting genes involved in different pathways (pseudohypoxic and receptor tyrosine kinase signalling) co-occurring in the same patient could provide a selective advantage for the development of PPGL, and explain the variable expressivity and incomplete penetrance observed in some patients.This work was supported by the Instituto de Salud Carlos III (ISCIII), through the “Acción Estratégica en Salud” (AES) (projects PI18/00454 to AC and PI20/01169 to MR), cofounded by the European Regional Development Fund (ERDF). SM was supported by the Spanish Ministry of Science, Innovation and Universities “Formación del Profesorado Universitario— FPU” fellowship with ID number FPU19/04940

    Draft Genome Sequence of the Plant-Pathogenic Fungus <i>Stemphylium lycopersici</i> Strain CIDEFI-216

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    Stemphylium lycopersiciis a pathogenic fungus that provokes the leaf spot disease on over 30 host genera worldwide, among them Tomato. Here we report the draft genome sequence ofS. lycopersicistrain CIDEFI-216. Total genomic DNA was isolated from a monosporic culture using the DNeasy Plant Mini Kit (Qiagen) and was used to construct 100 bp paired-end libraries, which were then sequenced by Illumina HiSeq 2000 technology. Reads were assembled using SOAPdenovo2 software at Macrogen (Korea).Gene prediction was performed by Fgenesh software (Softberry), functional annotation was carried out with Blast2GO software (BioBam) and tRNAs and rRNAs were predicted usingtRNAscan-SE and HMM-rRNA tools from WebMGA server. The paired-end libraries produced 31117554 reads with a total of 3142872954 bp, representing an average coverage of 77.39 X. The genome was assembled into 419 scaffolds with a total length of 35.18 Mbp (1000 bp; N50=498048 bp) and an overall G+C content of 50.5 %. A total of 8998 protein-coding genes were predicted, whose functional annotation is discussed. Additionally, 94 tRNAs and 44 rRNAs were found. This draft genome sequence, the first available forS. lycopersici, represents a new resource for further research into the taxonomy, biology and phytopathology of this plant pathogen.Facultad de Ciencias Agrarias y Forestale

    Draft Genome Sequence of the Plant-Pathogenic Fungus <i>Stemphylium lycopersici</i> Strain CIDEFI-216

    Get PDF
    Stemphylium lycopersiciis a pathogenic fungus that provokes the leaf spot disease on over 30 host genera worldwide, among them Tomato. Here we report the draft genome sequence ofS. lycopersicistrain CIDEFI-216. Total genomic DNA was isolated from a monosporic culture using the DNeasy Plant Mini Kit (Qiagen) and was used to construct 100 bp paired-end libraries, which were then sequenced by Illumina HiSeq 2000 technology. Reads were assembled using SOAPdenovo2 software at Macrogen (Korea).Gene prediction was performed by Fgenesh software (Softberry), functional annotation was carried out with Blast2GO software (BioBam) and tRNAs and rRNAs were predicted usingtRNAscan-SE and HMM-rRNA tools from WebMGA server. The paired-end libraries produced 31117554 reads with a total of 3142872954 bp, representing an average coverage of 77.39 X. The genome was assembled into 419 scaffolds with a total length of 35.18 Mbp (1000 bp; N50=498048 bp) and an overall G+C content of 50.5 %. A total of 8998 protein-coding genes were predicted, whose functional annotation is discussed. Additionally, 94 tRNAs and 44 rRNAs were found. This draft genome sequence, the first available forS. lycopersici, represents a new resource for further research into the taxonomy, biology and phytopathology of this plant pathogen.Facultad de Ciencias Agrarias y Forestale

    Draft Genome Sequence and Gene Annotation of <i>Stemphylium lycopersici</i> Strain CIDEFI-216

    Get PDF
    Stemphylium lycopersici is a plant-pathogenic fungus that is widely distributed throughout the world. In tomatoes, it is one of the etiological agents of gray leaf spot disease. Here, we report the first draft genome sequence of S. lycopersici, including its gene structure and functional annotation.Facultad de Ciencias Agrarias y Forestale

    Draft Genome Sequence of the Plant-Pathogenic Fungus <i>Stemphylium lycopersici</i> Strain CIDEFI-216

    Get PDF
    Stemphylium lycopersiciis a pathogenic fungus that provokes the leaf spot disease on over 30 host genera worldwide, among them Tomato. Here we report the draft genome sequence ofS. lycopersicistrain CIDEFI-216. Total genomic DNA was isolated from a monosporic culture using the DNeasy Plant Mini Kit (Qiagen) and was used to construct 100 bp paired-end libraries, which were then sequenced by Illumina HiSeq 2000 technology. Reads were assembled using SOAPdenovo2 software at Macrogen (Korea).Gene prediction was performed by Fgenesh software (Softberry), functional annotation was carried out with Blast2GO software (BioBam) and tRNAs and rRNAs were predicted usingtRNAscan-SE and HMM-rRNA tools from WebMGA server. The paired-end libraries produced 31117554 reads with a total of 3142872954 bp, representing an average coverage of 77.39 X. The genome was assembled into 419 scaffolds with a total length of 35.18 Mbp (1000 bp; N50=498048 bp) and an overall G+C content of 50.5 %. A total of 8998 protein-coding genes were predicted, whose functional annotation is discussed. Additionally, 94 tRNAs and 44 rRNAs were found. This draft genome sequence, the first available forS. lycopersici, represents a new resource for further research into the taxonomy, biology and phytopathology of this plant pathogen.Facultad de Ciencias Agrarias y Forestale
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