Search results for "NGS"
showing 10 items of 6306 documents
Medication for Acromegaly Reduces Expression of MUC16, MACC1 and GRHL2 in Pituitary Neuroendocrine Tumour Tissue
2021
Acromegaly is a disease mainly caused by pituitary neuroendocrine tumor (PitNET) overproducing growth hormone. First-line medication for this condition is the use of somatostatin analogs (SSAs), that decrease tumor mass and induce antiproliferative effects on PitNET cells. Dopamine agonists (DAs) can also be used if SSA treatment is not effective. This study aimed to determine differences in transcriptome signatures induced by SSA/DA therapy in PitNET tissue. We selected tumor tissue from twelve patients with somatotropinomas, with half of the patients receiving SSA/DA treatment before surgery and the other half treatment naive. Transcriptome sequencing was then carried out to identify diff…
The Porto European Cancer Research Summit 2021.
2021
Key stakeholders from the cancer research continuum met in May 2021 at the European Cancer Research Summit in Porto to discuss priorities and specific action points required for the successful implementation of the European Cancer Mission and Europe's Beating Cancer Plan (EBCP). Speakers presented a unified view about the need to establish high‐quality, networked infrastructures to decrease cancer incidence, increase the cure rate, improve patient's survival and quality of life, and deal with research and care inequalities across the European Union (EU). These infrastructures, featuring Comprehensive Cancer Centres (CCCs) as key components, will integrate care, prevention and research acros…
aPKCζ cortical loading is associated with Lgl cytoplasmic release and tumor growth in Drosophila and human epithelia
2007
Atypical protein kinase C (aPKC) and Lethal giant larvae (Lgl) regulate apical-basal polarity in Drosophila and mammalian epithelia. At the apical domain, aPKC phosphorylates and displaces Lgl that, in turn, maintains aPKC inactive at the basolateral region. The mutual exclusion of these two proteins seems to be crucial for the correct epithelial structure and function. Here we show that a cortical aPKC loading induces Lgl cytoplasmic release and massive overgrowth in Drosophila imaginal epithelia, whereas a cytoplasmic expression does not alter proliferation and epithelial overall structure. As two aPKC isoforms (iota and zeta) exist in humans and we previously showed that Drosophila Lgl i…
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.
2006
Contains fulltext : 35205.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, starting in early childhood and persisting into adulthood in the majority of cases. Family and twin studies have demonstrated the importance of genetic factors and candidate gene association studies have identified several loci that exert small but significant effects on ADHD. To provide further clarification of reported associations and identify novel associated genes, we examined 1,038 single-nucleotide polymorphisms (SNPs) spanning 51 candidate genes involved in the regulation of neurotransmitter pathways, particularly dopamine, nor…
Genomic portrait of a sporadic amyotrophic lateral sclerosis case in a large spinocerebellar ataxia type 1 family
2020
Background: Repeat expansions in the spinocerebellar ataxia type 1 (SCA1) gene ATXN1 increases the risk for amyotrophic lateral sclerosis (ALS), supporting a relationship between these disorders. We recently reported the co-existence, in a large SCA1 family, of a clinically definite ALS individual bearing an intermediate ATXN1 expansion and SCA1 patients with a full expansion, some of which manifested signs of lower motor neuron involvement. Methods: In this study, we employed a systems biology approach that integrated multiple genomic analyses of the ALS patient and some SCA1 family members. Results: Our analysis identified common and distinctive candidate genes/variants and related biolog…
High-resolution UAV imagery for field olive (Olea europaea L.) phenotyping
2021
Remote sensing techniques based on images acquired from unmanned aerial vehicles (UAVs) could represent an effective tool to speed up the data acquisition process in phenotyping trials and, consequently, to reduce the time and cost of the field work. In this study, we assessed the ability of a UAV equipped with RGB-NIR cameras in highlighting differences in geometrical and spectral canopy characteristics between eight olive cultivars planted at different planting distances in a hedgerow olive orchard. The relationships between measured and estimated canopy height, projected canopy area and canopy volume were linear regardless of the different cultivars and planting distances (RMSE of 0.12 m…
Detection of gas trace of hydrofluoric acid using microcantilever
2004
Abstract Microcantilevers have been used as a gas sensor in order to detect Hydrofluoric acid (HF) in the concentration range of 0.26–13 ppm. Silicon derived elements (Si 3 N 4 , SiO x ) were chosen to serve as chemical sensitive layer. Cantilever deflection and frequency shift were analyzed and compared as a function of the flow rate and the concentration of the HF molecules. The stoichiometry and roughness of the sensitive layer were found to be of major importance. Results show that the most appropriate signal at the lowest concentration ( x surface by HF. The frequency shift that is mainly governed by the loss in cantilever mass can be used at higher concentration.
Temperature and time dependent electron trapping in Al2O3 thin films onto AlGaN/GaN heterostructures
2022
In this article, the charge trapping phenomena in Al2O3 thin films grown by atomic layer deposition (ALD) on AlGaN/GaN heterostructures have been studied by time-dependent capacitance–voltage (C-V) measurements as a function of temperature. In particular, monitoring the transient of the capacitance enabled us to estimate the maximum depth of the insulating layer interested by the negative charge trapping effect under our bias stress conditions and to determine a charge traps density in the bulk Al2O3 in the order of 3 × 1019 cm−3. A temperature dependent C-V analysis up to 150 °C demonstrated the presence of two competitive mechanisms that rule the electron capture and emission in the Al2O3…
Real-time microfluorescence studies of Langmuir-Blodgett deposition: Monolayer adsorption and desorption
1990
Abstract Observations of the meniscus region in a typical Langmuir-Blodgett configuration are obtained using fluorescence microscopy. Studies of the meniscus position as a function of pH demonstrate that the meniscus height increases upon charging the monolayer owing to the repulsive interaction between monolayer and substrate surfaces. Through the correspondence between meniscus height and contact angle the adhesion forces between monolayer and substrate as a function of monolayer charge are assessed. The phenomenon of desorption upon resubmerging a deposited film is described and it is shown that the meniscus height at the onset of the desorption is greater for higher pH.
Pore Size Analysis of MCM-41 Type Adsorbents by Means of Nitrogen and Argon Adsorption
1998
Methods of nonlocal density functional theory (NLDFT), proposed recently for predictions of adsorption equilibrium and calculations of pore size distributions in micro- and mesoporous materials, were tested on reference MCM-41 materials. Five newly synthesized MCM-41 adsorbents with presumably uniform pore channels varying from 32 to 45 Å were characterized by X-ray diffraction (XRD), nitrogen adsorption at 77 K, and argon adsorption at 77 and 87 K. New sets of intermolecular interaction parameters of the NLDFT model for N2 and Ar adsorption on MCM-41 were determined. The parameters were specified to reproduce the bulk liquid-gas equilibrium densities and pressures, liquid-gas interfacial t…