Empowering non-covalent hydrogen, halogen, and [S-N] bonds in synergistic molecular assemblies on Au(111).

Non-covalent bonds are fundamental for designing self-assembled organic structures with potentially high responsiveness to mechanical, light, and thermal stimuli. The weak intermolecular interaction allows triggering charge-transport, energy-conversion, enzymatic, and catalytic activity, to name a few. Here, we discuss the synergistic action that multiple highly-directional and purely electrostatic bonds have in assembling one molecular specie, namely 4,7-dibromobenzo[]-1,2,5-thiadiazole (2Br-BTD), in two different patterns on the Au(111) surface.

Identification of Germinal Neurofibromin Hotspots.

Neurofibromin is engaged in many cellular processes and when the proper protein functioning is impaired, it causes neurofibromatosis type 1 (), one of the most common inherited neurological disorders. Recent advances in sequencing and screening of the gene have increased the number of detected variants. However, the correlation of these variants with the clinic remains poorly understood.

Comparative Study of Bioactive Lipid Extraction from Squid () by-Products by Green Solvents.

A novel approach of bioactive lipid extraction by different green solvents was carried out on squid (Doryteuthis gahi) by-products. By-products (viscera, heads, skin, tails, etc.), considered as a single product, were subjected to the following solvent systems: ethanol, acetone, ethyl acetate, 1/1 ethanol/acetone, 1/1 ethanol/ethyl acetate, and 1/1 acetone/ethyl acetate.

Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations.

Conventional cytogenetics are the gold standard for the identification of chromosomal alterations recurrent in myeloid neoplasms. Some next-generation sequencing (NGS) panels are designed for the detection of copy number variations (CNV) or translocations; however, their use is far from being widespread. Here we report on the results of a commercial panel including frequent mutations, CNVs and translocations in myeloid neoplasms.

Fish Oil Improves Pathway-Oriented Profiling of Lipid Mediators for Maintaining Metabolic Homeostasis in Adipose Tissue of Prediabetic Rats.

Adipose tissue is now recognized as an active organ with an important homeostatic function in glucose and lipid metabolism and the development of insulin resistance. The present research investigates the role of lipid mediators and lipid profiling for controlling inflammation and the metabolic normal function of white adipose tissue from rats suffering from diet-induced prediabetes. Additionally, the contribution to the adipose lipidome induced by the consumption of marine ω-3 PUFAs as potential regulators of inflammation is addressed.

Poly[3-ethyl-1-vinyl-imidazolium] diethyl phosphate/Pebax 1657 Composite Membranes and Their Gas Separation Performance.

Poly(ionic liquid)s are an innovative class of materials with promising properties in gas separation processes that can be used to boost the neat polymer performances. Nevertheless, some of their properties such as stability and mechanical strength have to be improved to render them suitable as materials for industrial applications. This work explored, on the one hand, the possibility to improve gas transport and separation properties of the block copolymer Pebax 1657 by blending it with poly[3-ethyl-1-vinyl-imidazolium] diethyl phosphate (PEVI-DEP).

Sustainability management of short-lived freshwater fish in human-altered ecosystems should focus on adult survival.

Fish populations globally are susceptible to endangerment through exploitation and habitat loss. We present theoretical simulations to explore how reduced adult survival (age truncation) might affect short-lived freshwater fish species in human-altered contemporary environments. Our simulations evaluate two hypothetical "average fish" and five example fish species of age 1 or age 2 maturity.

Colloidal dispersions of oxide nanoparticles in ionic liquids: elucidating the key parameters.

The combination of ionic liquid and nanoparticle properties is highly appealing for a number of applications. However, thus far there has been limited systematic exploration of colloidal stabilisation in these solvents, which provides an initial direction towards their employment. Here, we present a new and comprehensive study of the key parameters affecting the colloidal stability in dispersions of oxide nanoparticles in ionic liquids.

RNA-Seq Perspectives to Improve Clinical Diagnosis.

In recent years, high-throughput next-generation sequencing technology has allowed a rapid increase in diagnostic capacity and precision through different bioinformatics processing algorithms, tools, and pipelines. The identification, annotation, and classification of sequence variants within different target regions are now considered a gold standard in clinical genetic diagnosis. However, this procedure lacks the ability to link regulatory events such as differential splicing to diseases.

Non-Targeted LC-MS/MS Assay for Screening Over 100 Lipid Mediators from ARA, EPA, and DHA in Biological Samples Based on Mass Spectral Fragmentations.

A non-targeted strategy to simultaneously screen for over 100 lipid mediators from ω-6 ARA and ω-3 EPA and DHA fatty acids is presented. The method based on an extensive study of fragmentation patterns obtained by SPE-LC-MS/MS analysis-provided fingerprints to comprehensively elucidate and identify lipid mediators in biological samples. Many of these metabolites are associated to metabolic disorders, inflammatory, immune and oxidative stress.

Lineage specific transcription factors and epigenetic regulators mediate TGFβ-dependent enhancer activation.

During neurogenesis, dynamic developmental cues, transcription factors and histone modifying enzymes regulate the gene expression programs by modulating the activity of neural-specific enhancers. How transient developmental signals coordinate transcription factor recruitment to enhancers and to which extent chromatin modifiers contribute to enhancer activity is starting to be uncovered. Here, we take advantage of neural stem cells as a model to unravel the mechanisms underlying neural enhancer activation in response to the TGFβ signaling.

The histone demethylase PHF8 is a molecular safeguard of the IFNγ response.

A precise immune response is essential for cellular homeostasis and animal survival. The paramount importance of its control is reflected by the fact that its non-specific activation leads to inflammatory events that ultimately contribute to the appearance of many chronic diseases. However, the molecular mechanisms preventing non-specific activation and allowing a quick response upon signal activation are not yet fully understood.

The epigenetic landscape of Alu repeats delineates the structural and functional genomic architecture of colon cancer cells.

Cancer cells exhibit multiple epigenetic changes with prominent local DNA hypermethylation and widespread hypomethylation affecting large chromosomal domains. Epigenome studies often disregard the study of repeat elements owing to technical complexity and their undefined role in genome regulation. We have developed NSUMA (Next-generation Sequencing of UnMethylated Alu), a cost-effective approach allowing the unambiguous interrogation of DNA methylation in more than 130,000 individual Alu elements, the most abundant retrotransposon in the human genome.

Conservation status of freshwater mussels in Europe: state of the art and future challenges.

Freshwater mussels of the Order Unionida provide important ecosystem functions and services, yet many of their populations are in decline. We comprehensively review the status of the 16 currently recognized species in Europe, collating for the first time their life-history traits, distribution, conservation status, habitat preferences, and main threats in order to suggest future management actions. In northern, central, and eastern Europe, a relatively homogeneous species composition is found in most basins.

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

Cell-free circulating tumour DNA (ctDNA) in plasma has been shown to be informative of the genomic alterations present in tumours and has been used to monitor tumour progression and response to treatments. However, patients with brain tumours do not present with or present with low amounts of ctDNA in plasma precluding the genomic characterization of brain cancer through plasma ctDNA. Here we show that ctDNA derived from central nervous system tumours is more abundantly present in the cerebrospinal fluid (CSF) than in plasma.

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused by mutations in the transferrin receptor 2 (TFR2) gene. Here, we describe three new HH type 3 Spanish families with four TFR2 mutations (p.Gly792Arg, c.

Overlapping DNA methylation dynamics in mouse intestinal cell differentiation and early stages of malignant progression.

Mouse models of intestinal crypt cell differentiation and tumorigenesis have been used to characterize the molecular mechanisms underlying both processes. DNA methylation is a key epigenetic mark and plays an important role in cell identity and differentiation programs and cancer. To get insights into the dynamics of cell differentiation and malignant transformation we have compared the DNA methylation profiles along the mouse small intestine crypt and early stages of tumorigenesis.

Deconstruction of DNA methylation patterns during myogenesis reveals specific epigenetic events in the establishment of the skeletal muscle lineage.

The progressive restriction of differentiation potential from pluripotent embryonic stem cells (ESCs) to tissue-specific stem cells involves widespread epigenetic reprogramming, including modulation of DNA methylation patterns. Skeletal muscle stem cells are required for the growth, maintenance, and regeneration of skeletal muscle. To investigate the contribution of DNA methylation to the establishment of the myogenic program, we analyzed ESCs, skeletal muscle stem cells in proliferating (myoblasts) and differentiating conditions (myotubes), and mature myofibers.

Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

Loss-of-function mutations of the enzyme alpha-galactosidase A (GLA) causes Fabry disease (FD), that is a rare and potentially fatal disease. Identification of these pathological mutations by sequencing is important because it allows an early treatment of the disease. However, before taking any treatment decision, if the mutation identified is unknown, we first need to establish if it is pathological or not.

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.

Familial Hemophagocytic Lymphohistiocytosis type 3 (FHL3) is a genetic disorder caused by mutations in UNC13D gene, coding the granule priming factor Munc13-4 that intervenes in NK and T cell cytotoxic function. Here we report the case of a 17-month-old girl with prolonged symptomatic EBV infectious mononucleosis and clinical symptoms of hemophagocytic syndrome. In vitro functional analysis pointed to a degranulation defect.

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare autosomal-dominant disease caused by mutations in SERPING1 gene. The main clinical feature of C1INH deficiency is the spontaneous edema of the subcutaneous and submucosal layers. More than 280 different mutations scattering the entire SERPING1 gene have been reported.

Remarks on nodal volume statistics for regular and chaotic wave functions in various dimensions.

We discuss the statistical properties of the volume of the nodal set of wave functions for two paradigmatic model systems which we consider in arbitrary dimension s≥2: the cuboid as a paradigm for a regular shape with separable wave functions and planar random waves as an established model for chaotic wave functions in irregular shapes. We give explicit results for the mean and variance of the nodal volume in the arbitrary dimension, and for their limiting distribution. For the mean nodal volume, we calculate the effect of the boundary of the cuboid where Dirichlet boundary conditions reduce the nodal volume compared with the bulk.

The relationship between gene isoform multiplicity, number of exons and protein divergence.

At present we know that phenotypic differences between organisms arise from a variety of sources, like protein sequence divergence, regulatory sequence divergence, alternative splicing, etc. However, we do not have yet a complete view of how these sources are related. Here we address this problem, studying the relationship between protein divergence and the ability of genes to express multiple isoforms.

Characterization of the impact of alternative splicing on protein dynamics: the cases of glutathione S-transferase and ectodysplasin-A isoforms.

Recent studies have shown how alternative splicing (AS), the process by which eukaryotic genes express more than one product, affects protein sequence and structure. However, little information is available on the impact of AS on protein dynamics, a property fundamental for protein function. In this work, we have addressed this issue using molecular dynamics simulations of the isoforms of two model proteins: glutathione S-transferase and ectodysplasin-A.