Search results for "Transcript"
showing 10 items of 3476 documents
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible suscep…
2014
Item does not contain fulltext Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our disc…
Visually induced motion sickness and presence in videogames: The role of sound
2012
Visually induced motion sickness (VIMS) is a well-known phenomenon in virtual environments, simulators, and videogames. We conducted an experiment to analyze the role of sound on the severity of VIMS and the feeling of presence in videogames. Thirty-two subjects first watched a pre-recorded sequence of the game “Mirrors Edge” and then played the game actively. Game-play sound was activated for half of the participants. VIMS was measured via the Simulator Sickness Questionnaire and the Fast Motion Sickness Scale, presence was captured using the Presence Questionnaire. Results showed severe VIMS in all participants during the passive video session, whereas active-play revealed only moderate …
Gold nanoprobe-based detection of human telomerase reverse transcriptase (hTERT) Gene Expression
2015
Human Telomerase Reverse Transcriptase (hTERT) gene is expressed in all types of cancers, and it is considered as unique biomarker for early detection, monitoring and prognosis of different cancers. Routinely, the main techniques for detection of hTERT gene expression are based on enzymatic amplifications which need specified equipments, expert personnel and high cost and time. With regarding to the clinical importance of analysis of hTERT gene expression, we have developed a rapid, simple and low cost method which detects hTERT RNA target in 5 $\mu {\rm l}$ reaction scale using gold nanoprobes. The method is based on the inhibition of nanoparticle aggregation in the presence of ${\rm MgCl}…
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
1998
SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
The fnr Gene of Bacillus licheniformis and the Cysteine Ligands of the C-Terminal FeS Cluster
1998
Many of the O2-responsive gene regulators of bacteria are members of the fumarate nitrate reductase-cyclic AMP receptor protein family of transcriptional regulators (12, 13, 15, 17) with predicted structures similar to those of the cyclic AMP receptor protein (11). The Fnr (stands for fumarate nitrate reductase regulator) protein from Escherichia coli (FnrEc) controls the expression of a variety of genes, mainly of anaerobic respiration and metabolism (5, 13). It contains a N-terminal cluster of three essential cysteine residues which are supposed to bind together with Cys122 a [4Fe 4S]2+ cluster which is required for O2 sensing (4, 7, 8, 10, 16). A wide variety of gram-negative bacteria co…
Stromal Interaction Molecule 1 (STIM1) Is Involved in the Regulation of Mitochondrial Shape and Bioenergetics and Plays a Role in Oxidative Stress
2012
Calcium ions are involved in a plethora of cellular functions including cell death and mitochondrial energy metabolism. Store-operated Ca(2+) entry over the plasma membrane is activated by depletion of intracellular Ca(2+) stores and is mediated by the sensor STIM1 and the channel ORAI1. We compared cell death susceptibility to oxidative stress in STIM1 knock-out and ORAI1 knockdown mouse embryonic fibroblasts and in knock-out cells with reconstituted wild type and dominant active STIM1. We show that STIM1 and ORAI1 deficiency renders cells more susceptible to oxidative stress, which can be rescued by STIM1 and ORAI1 overexpression. STIM1 knock-out mitochondria are tubular, have a higher Ca…
La emergencia viral como consecuencia de la interacción entre las variabilidades genéticas del virus y huésped
2015
La variabilidad genética en las poblaciones de huéspedes para la susceptibilidad al patógeno es esencial para la propagación de un virus emergente. Los modelos matemáticos predicen que la tasa de difusión del patógeno se frena a medida que aumenta la frecuencia y la diversidad de alelos de resistencia en la población huésped148,230. Sin embargo, las pruebas experimentales de esta hipótesis son escasas. Por ese motivo, este trabajo aborda la cuestión de cuánta heterogeneidad genética del huésped es necesaria para el cambio del destino evolutivo del virus. El modelo de patosistema experimental utilizado en este trabajo está compuesto por el Virus del grabado del tabaco (TEV), aislado At17b (T…
Lisämateriaali artikkeliin "Exposure to environmental radionuclides is associated with altered metabolic and immunity pathways in a wild rodent".
2022
Electronic material for Kesäniemi J, Jernfors T, Lavrinienko A, Kivisaari K, Kiljunen M, Mappes T & Watts PC. 2019. Exposure to environmental radionuclides is associated with altered metabolic and immunity pathways in a wild rodent. Molecular Ecology 28: 4620–4635. Contains transcriptome annotation data and output of differential expression and gene ontology enrichment analyses. Parts of the dataset originally published in DRYAD (https://doi.org/10.5061/dryad.j3c6r69).
Variability of the human gut microbiota in space, time, and associated with the irritable bowel syndrome
2013
Esta tesis doctoral se centra en el estudio de una de las comunidades microbianas más complejas y de mayor interés biomédico: la microbiota asociada al intestino distal de humanos. El objetivo principal ha sido estudiar las alteraciones potenciales de la microbiota intestinal en relación con el síndrome del intestino irritable (SII), el desorden funcional del tracto gastrointestinal más común en sociedades occidentales. Nuestra aproximación forma parte de una visión actual sobre las relaciones entre microorganismos y hospedadores que trasciende la clásica y estrecha mirada sobre patógenos concretos y enfermedades infecciosas y la desplaza hacia una concepción más de conjunto, que valora los…
The transcriptome analysis of Strongyloides stercoralis L3i larvae reveals targets for intervention in a neglected disease.
2012
Background: Strongyloidiasis is one of the most neglected diseases distributed worldwide with endemic areas in developed countries, where chronic infections are life threatening. Despite its impact, very little is known about the molecular biology of the parasite involved and its interplay with its hosts. Next generation sequencing technologies now provide unique opportunities to rapidly address these questions. Principal Findings: Here we present the first transcriptome of the third larval stage of S. stercoralis using 454 sequencing coupled with semi-automated bioinformatic analyses. 253,266 raw sequence reads were assembled into 11,250 contiguous sequences, most of which were novel. 8037…