Search results for "Informatics"

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

2009

Contains fulltext : 80984.pdf (Publisher’s version ) (Closed access) Usher syndrome (USH) and Leber congenital amaurosis (LCA) are autosomal recessive disorders resulting in syndromic and non-syndromic forms of blindness. In order to gain insight into the pathogenic mechanisms underlying retinal degeneration, we searched for interacting proteins of USH2A isoform B (USH2A(isoB)) and the LCA5-encoded protein lebercilin. We identified a novel isoform of the centrosomal ninein-like protein, hereby named Nlp isoform B (Nlp(isoB)), as a common interactor. Although we identified the capacity of this protein to bind calcium with one of its three EF-hand domains, the interacton with USH2A(isoB) did …

Targeting the JAK/STAT Pathway: A Combined Ligand- and Target-Based Approach

2021

Janus kinases (JAKs) are a family of proinflammatory enzymes able to mediate the immune responses and the inflammatory cascade by modulating multiple cytokine expressions as well as various growth factors. In the present study, the inhibition of the JAK-signal transducer and activator of transcription (STAT) signaling pathway is explored as a potential strategy for treating autoimmune and inflammatory disorders. A computationally driven approach aimed at identifying novel JAK inhibitors based on molecular topology, docking, and molecular dynamics simulations was carried out. For the best candidates selected, the inhibitory activity against JAK2 was evaluated in vitro. Two hit compounds with…

PRACTICAL ASPECTS OF THE ANALYSIS OF THE PROGRESSION CURVES OF FIRST AND PSEUDO-FIRST ORDER REACTIONS

2020

The paper presents a simple method of determining iteratively the progression curve asymptote for first and pseudo-first order reactions. For selected student exercises, thus obtained results were compared (see Supplementary Material) with those found by means of the method of determining asymptotes experimentally. A nonlinear fitting method was additionally employed to assess the accuracy.

Prediction of the Fundamental Period of Infilled RC Frame Structures Using Artificial Neural Networks

2015

The fundamental period is one of the most critical parameters for the seismic design of structures. There are several literature approaches for its estimation which often conflict with each other, making their use questionable. Furthermore, the majority of these approaches do not take into account the presence of infill walls into the structure despite the fact that infill walls increase the stiffness and mass of structure leading to significant changes in the fundamental period. In the present paper, artificial neural networks (ANNs) are used to predict the fundamental period of infilled reinforced concrete (RC) structures. For the training and the validation of the ANN, a large data set i…

Relative risk estimation of dengue disease at small spatial scale

2017

Abstract Background Dengue is a high incidence arboviral disease in tropical countries around the world. Colombia is an endemic country due to the favourable environmental conditions for vector survival and spread. Dengue surveillance in Colombia is based in passive notification of cases, supporting monitoring, prediction, risk factor identification and intervention measures. Even though the surveillance network works adequately, disease mapping techniques currently developed and employed for many health problems are not widely applied. We select the Colombian city of Bucaramanga to apply Bayesian areal disease mapping models, testing the challenges and difficulties of the approach. Methods…

Alcoholic and Nonalcoholic Liver Disease: Diagnostic Assessment and Therapeutic Perspectives

2019

Next-Generation Sequencing: Application in Liver Cancer—Past, Present and Future?

2012

Hepatocellular Carcinoma (HCC) is the third most deadly malignancy worldwide characterized by phenotypic and molecular heterogeneity. In the past two decades, advances in genomic analyses have formed a comprehensive understanding of different underlying pathobiological layers resulting in hepatocarcinogenesis. More recently, improvements of sophisticated next-generation sequencing (NGS) technologies have enabled complete and cost-efficient analyses of cancer genomes at a single nucleotide resolution and advanced into valuable tools in translational medicine. Although the use of NGS in human liver cancer is still in its infancy, great promise rests in the systematic integration of different …

Good-genes effects in sexual selection

1999

The magnitude of the effect of good genes as a viability benefit accruing to choosy females remains a controversial theoretical and empirical issue. We collected all available data from the literature to estimate the magnitude of good-genes viability effects, while adjusting for sample size. The average correlation coefficient between male traits and offspring survival in 22 studies was 0.122, which differed highly significantly from zero. This implies that male characters chosen by females reveal on average 1.5% of the variance in viability. The studies demonstrated considerable heterogeneity in effect size; some of this heterogeneity could be accounted for by differences among taxa (birds…

Novel circulating microRNA signature as a potential non-invasive multi-marker test in ER-positive early-stage breast cancer:A case control study

2014

Introduction There are currently no highly sensitive and specific minimally invasive biomarkers for detection of early‐stage breast cancer. MicroRNAs (miRNAs) are present in the circulation and may be unique biomarkers for early diagnosis of human cancers. The aim of this study was to investigate the differential expression of miRNAs in the serum of breast cancer patients and healthy controls. Methods Global miRNA analysis was performed on serum from 48 patients with ER‐positive early‐stage breast cancer obtained at diagnosis (24 lymph node‐positive and 24 lymph node‐negative) and 24 age‐matched healthy controls using LNA‐based quantitative real‐time PCR (qRT‐PCR). A signature of miRNAs was…

Clinical relevance of polymorphic markers of arterial thrombosis.

1997

Case-control and cross-sectional studies show that some common molecular variations (polymorphisms) of genes coding for proteins involved in atherosclerosis and thrombosis are often present in subjects who have experienced cerebrovascular or cardiovascular events. The clinical impact of the majority of polymorphic markers is disputed by prospective reports. In contrast, their pathophysiological implications and their role in monitoring parameters that are difficult to be checked by alternative means, are documented by the large majority of the reports. From the evidence available, there may be suggestion for further impact of polymorphic markers in vascular medicine. To substantiate this, n…