Search results for "script"
showing 10 items of 5143 documents
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome
2017
Abstract Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland. Postpartum he developed a brain-lung-thyroid syndrome with severe respiratory failure, symptomatic epilepsy and a considerable psychomotor retardation. The DNA-bi…
Comparison of RNA-seq and microarray-based models for clinical endpoint prediction
2015
Background Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool for transcriptome-based applications beyond the limitations of microarrays, we sought to systematically evaluate the performance of RNA-seq-based and microarray-based classifiers in this MAQC-III/SEQC study for clinical endpoint prediction using neuroblastoma as a model. Results We generate gene expression profiles from 498 primary neuroblastomas using both RNA-seq and 44 k microarrays. Characterization of the neuroblastoma transcriptome by RNA-seq reveals that more than 48,000 genes and 200,000 transcripts are being …
Factors Associated with Meat Consumption in Students of Spanish Universities: UniHcos Project
2019
The level of meat consumption is one of the main deviations from the Mediterranean diet pattern in Spanish university students. The objective of this cross-sectional descriptive study is to analyze the association between sociodemographic factors and the consumption of fresh and processed meat in Spanish university students. This study is part of a cohort of 11 Spanish universities with 9862 university students (UniHcos Project). A descriptive analysis and a chi2 test were carried out to assess differences between personal and sociodemographic variables and meat consumption, and binary logistic regression analysis to assess factors associated with consumption; 19.9% and 73.5% met the recomm…
The p53 Tumor Suppressor Network Is a Key Responder to Microenvironmental Components of Chronic Inflammatory Stress
2005
Abstract Activation of the p53 network plays a central role in the inflammatory stress response associated with ulcerative colitis and may modulate cancer risk in patients afflicted with this chronic disease. Here, we describe the gene expression profiles associated with four microenvironmental components of the inflammatory response (NO•, H2O2, DNA replication arrest, and hypoxia) that result in p53 stabilization and activation. Isogenic HCT116 and HCT116 TP53−/− colon cancer cells were exposed to the NO• donor Sper/NO, H2O2, hypoxia, or hydroxyurea, and their mRNA was analyzed using oligonucleotide microarrays. Overall, 1,396 genes changed in a p53-dependent manner (P < 0.001), wit…
Human Upcyte Hepatocytes: Characterization of the Hepatic Phenotype and Evaluation for Acute and Long-Term Hepatotoxicity Routine Testing
2016
The capacity of human hepatic cell-based models to predict hepatotoxicity depends on the functional performance of cells. The major limitations of human hepatocytes include the scarce availability and rapid loss of the hepatic phenotype. Hepatoma cells are readily available and easy to handle, but are metabolically poor compared with hepatocytes. Recently developed human upcyte hepatocytes offer the advantage of combining many features of primary hepatocytes with the unlimited availability of hepatoma cells. We analyzed the phenotype of upcyte hepatocytes comparatively with HepG2 cells and adult primary human hepatocytes to characterize their functional features as a differentiated hepatic …
Evidence of oxidative stress in very long chain fatty acid--treated oligodendrocytes and potentialization of ROS production using RNA interference-di…
2011
X-linked adrenoleukodystrophy (X-ALD) and pseudo neonatal adrenoleukodystrophy (P-NALD) are neurodegenerative demyelinating diseases resulting from the functional loss of the peroxisomal ATP-binding cassette transporter D (ABCD1) and from single peroxisomal enzyme deficiency (Acyl-CoA oxidase1: ACOX1), respectively. As these proteins are involved in the catabolism of very long chain fatty acids (VLCFA: C24:0, C26:0), X-ALD and P-NALD patients are characterized by the accumulation of VLCFA in plasma and tissues. Since peroxisomes are involved in the metabolism of reactive oxygen species (ROS) and nitrogen species (RNS), we examined the impact of VLCFA on the oxidative status of 158N murine o…
Nuclear Pore Complex Acetylation Regulates mRNA Export and Cell Cycle Commitment in Budding Yeast
2021
AbstractNuclear pore complexes (NPCs) mediate communication between the nucleus and the cytoplasm and regulate gene expression by interacting with transcription and mRNA export factors. Lysine acetyl-transferases (KATs) promote transcription through acetylation of chromatin-associated proteins. We find that Esa1, the KAT subunit of the yeast NuA4 complex, also acetylates the nuclear pore basket component Nup60 to promote mRNA export. Acetylation of Nup60 recruits to the nuclear basket the mRNA export factor Sac3, the scaffolding subunit of the Transcription and Export 2 (TREX-2) complex. Esa1-dependent nuclear export of mRNAs promotes entry into S phase, and is inhibited by the Hos3 deacety…
IANUS - Comparative analysis - Appendix A: UST analysis
2002
UST dimension concerns data different from already analyzed data of ABA, ENQ, and ECO for their own nature: UST data are individual/subjective data while ABA, ENQ, and ECO are aggregate/objective data. So, the analysis criterion used for UST data will be different from that used previously. Our aim, in this section, is an evaluation of the users’ opinions on facilities through a descriptive analysis of our sample results.
Effet du relief sur la variabilité de descripteurs des saisons des pluies en Afrique de l’Est.
2011
6 pages; International audience; Les variations spatiales des différents descripteurs des saisons des pluies tropicales (durée, fréquence et intensitédes pluies…) sont mal connues, notamment en régions accidentées. Elles ont pourtant une réelle incidence agroclimatique.Au Kenya, ces descripteurs sont fortement contraints par la géographie, y compris aux échelles fines. L’exemple du versantest du Mont Kenya montre une gamme de conditions agro-écologiques, sous l’influence du schéma général reliantl’augmentation des pluies avec l’altitude. L’altitude influence principalement la durée des deux saisons des pluies (Long etShort rains). La fréquence des jours de pluies est également modulée par l…
Aspectos geográficos en la obra de Antonio Bordazar De Artzau, Impresor erudito valenciano del siglo XVIII
1987
EN EL PERESENTE ARTICULO SE HACE UN RECORRIDO POR LA OBRA MANUSCRITA DEL IMPRESOR ANTONIO BORDAZAR DE ARTAZU, ULTIMO DE LOS MIEMBROS DEL MOVIMIENTO DE RENOVACION CIENTIFICA QUE TUVO LUGAR EN VALENCIA EN EL TRANSITO DEL SIGLO XVII AL XVIII. SE ATIENDE FUNDAMENTALMENTE A SU CONTENIDO GEOGRAFICO, INTENTANDO PONER DE RELIEVE LAS INFLUENCIAS RECIBIDAS DE LOS AUTORES MAS SIGNIFICATIVOS DE LA EPOCA Y DE LOS ASPECTOS MAS VALIOSOS DE LA MISMA, ESENCIALMENTE EN SU VERTIENTE CARTOGRAFICA. POR MEDIO DE TODO ELLO SE PRETENDE SU VALORACION ADECUADA Y UN ACERCAMIENTO A LOS PLANTEAMIENTOS DE LA GEOGRAFIA A COMIENZOS DEL SIGLO QUE MARCARIA SU INFLEXION DESDE POSICIONES MATEMATICAS Y CIENTIFICAS HACIA LA LIN…