Search results for "informatics"

The Impact of Estrogen Decline on Other Noncommunicable Diseases

2017

Estrogens have specific receptors spread out in various systems of the organism. The drastic hormonal fall after menopause may be followed by a series of effects, which may be more or less relevant in the different areas of the organism. The bone constitutes a field that clearly reflects that impact, and postmenopausal osteoporosis has received attention in one ad hoc chapter. The present chapter reviews the impact on functions of the central nervous system, particularly cognition and mood, the skeletal system, specifically osteoarthritis, and the cardiovascular system. The obvious interest of the chapter derives from the importance of the selected systems, which may house highly prevalent …

Ubiquitous Structural Signaling in Bacterial Phytochromes

2015

The phytochrome family of light-switchable proteins has long been studied by biochemical, spectroscopic and crystallographic means, while a direct probe for global conformational signal propagation has been lacking. Using solution X-ray scattering, we find that the photosensory cores of several bacterial phytochromes undergo similar large-scale structural changes upon red-light excitation. The data establish that phytochromes with ordinary and inverted photocycles share a structural signaling mechanism and that a particular conserved histidine, previously proposed to be involved in signal propagation, in fact tunes photoresponse.

2015

Protein-protein interaction (PPI) networks are associated with multiple types of biases partly rooted in technical limitations of the experimental techniques. Another source of bias are the different frequencies with which proteins have been studied for interaction partners. It is generally believed that proteins with a large number of interaction partners tend to be essential, evolutionarily conserved and involved in disease. It has been repeatedly reported that proteins driving tumor formation have a higher number of PPI partners. However, it has been noticed before that the degree distribution of PPI networks is biased towards disease proteins, which tend to have been studied more often …

Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes

2012

A nested case-control association study was designed to investigate the influence of maternal and fetal copy number variants (CNVs) on reproductive outcomes. Genotypes of ten CNVs encompassing GST and CYP genes were assessed. Significant associations were only found for child CNV genotypes. In particular, the child GSTM1 insertion allele was associated with prematurity protection (odds ratio, 95% CI: 0.67, 0.51-0.89; P < 0.01), whereas the child GSTT2B insertion allele was associated with an increased risk of being small for gestational age (odds ratio, 95% CI: 1.33, 1.07-1.67; P = 0.01). The study highlights the role of the fetal genome in prenatal development and also the need to analyse …

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

2018

Diabetic kidney disease (DKD) is a heritable but poorly understood complication of diabetes. To identify genetic variants predisposing to DKD, we performed genome-wide association analyses in 19,406 individuals with type 1 diabetes (T1D) using a spectrum of DKD definitions basedon albuminuria and renal function. We identified 16 genome-wide significant loci. The variant with the strongest association (rs55703767) is a common missense mutation in the collagen type IV alpha 3 chain(COL4A3)gene, which encodes a major structural component of the glomerular basement membrane (GBM) implicated in heritable nephropathies. The rs55703767 minor allele (Asp326Tyr) is protective against several definit…

Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

2021

Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disord…

Paving the way for synthetic biology-based bioremediation in Europe

2009

Synthetic biology (SB) has a dual definition. It is both the design and construction of new biological parts, devices and systems, and also the re‐design of existing, natural systems for useful purposes. The latter field is maybe one of the major challenges within this discipline, since the promising prospect that biological systems may be used as biomachines will certainly be exploited in the near future. Synthetic biology has challenging conceptual possibilities (Moya et al., 2009a) and impressive progress has already been made in biotechnology following SB approaches (de Lorenzo and Danchin, 2008). Much more is expected in the near future from current efforts aiming to make synthetic gen…

Boosting Signal-to-Noise in Complex Biology: Prior Knowledge Is Power

2011

A major difficulty in the analysis of complex biological systems is dealing with the low signal-to-noise inherent to nearly all large biological datasets. We discuss powerful bioinformatic concepts for boosting signal-to-noise through external knowledge incorporated in processing units we call filters and integrators. These concepts are illustrated in four landmark studies that have provided model implementations of filters, integrators, or both.

Data on in vivo PGC-1alpha overexpression model via local transfection in aged mouse muscle

2018

The data presented in this article are related to the research paper entitled “Intensified mitophagy in skeletal muscle with aging is downregulated by PGC-1alpha overexpression in vivo” (Yeo et al., 2019). The data explained the surgical procedure of in vivo local transfection by electroporation method in aged mouse tibialis anterior muscle, and plasmid DNA preparation and verification protocol. The data also showed the transfection efficiency levels of GFP or GFP-tagged PGC-1alpha through immunohistochemistry method for frozen muscle cross-sections.

When age means safety: Data to assess trends and differences on rule knowledge, risk perception, aberrant and positive road behaviors, and traffic cr…

2019

This data article examines the association between age, knowledge of traffic rules, risk perception, risky and positive behaviors on the road and traffic safety outcomes of cyclists. The data was collected using a structured self-administrable and online-based questionnaire, applied to a full sample of 1064 cyclists. The data contains 4 parts: descriptive statistics; graphical trends for each study variable according to age; Post-Hoc (Tukey-HSD) comparisons between cyclists classified in the different age groups; and, finally, the dataset for further explorations in this regard. For further information, it is convenient to read the full article entitled "Explaining Self-Reported Traffic Cra…