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The pro-apoptotic Bax isoform Bax∆2 was originally discovered in cancer patients with a microsatellite guanine deletion (G8 to G7). This deletion leads to an early stop codon; however, when combined with the alternative splicing of exon 2, the reading frame is restored allowing production of a full-length protein (Bax∆2). Unlike the parental Baxα, Bax∆2 triggers apoptosis through a non-mitochondri
Diabetes is the leading cause of ESRD. Despite evidence for a substantial heritability of diabetic kidney disease, efforts to identify genetic susceptibility variants have had limited success. We extended previous efforts in three dimensions, examining a more comprehensive set of genetic variants in larger numbers of subjects with type 1 diabetes characterized for a wider range of cross-sectional
Writing as dusk fell on the mid-Republic, Ennius (238–169 BCE) purportedly remarked, ‘Kings throughout their kingship are in quest of statues and sepulchres; they build up a name and strain with all their might and main’. A poet whose verse mediated between the Greek and Roman worlds, he knew the weight of his words, and they usefully highlight the political presence of a tomb. Not that this is un
This Letter presents the first direct investigation of the p–Σ0 interaction, using the femtoscopy technique in high-multiplicity pp collisions at s=13 TeV measured by the ALICE detector. The Σ0 is reconstructed via the decay channel to Λγ, and the subsequent decay of Λ to pπ−. The photon is detected via the conversion in material to e+e− pairs exploiting the capability of the ALICE detector to mea
This thesis includes a compilation of four publications with a long-term perspective on the mechanisms of social reproduction and the general trends of socioeconomic inequality in the Barcelona area between the fifteenth and the nineteenth centuries. The familial mechanisms of social reproduction encompass economic, institutional, legal, political, and/or cultural mechanisms for maintaining, impro
The market of connected devices, IoT devices in particular, is hotter than ever. Today, lightweight IoT devices are used in several sectors, such as smart cities, smart homes, healthcare, and the manufacturing industry.IoT solutions help increase productivity by predictive maintenance and resource management in the industry. Devices with voice interfaces are spreading rapidly in the home automatio
Background & Aims: The I148M variant in PNPLA3 is the major genetic risk factor for non-alcoholic fatty liver disease (NAFLD). The liver is enriched with polyunsaturated triglycerides (PUFA-TGs) in PNPLA3-I148M carriers. Gene expression data indicate that PNPLA3 is liver-specific in humans, but whether it functions in adipose tissue (AT) is unknown. We investigated whether PNPLA3-I148M modifie
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural populations, whereas non-essential genes will tolerate their accumulation. However, predicted loss-of-function variants are enriched for annotation errors,
The Arctic is getting warmer and wetter. Here, we document two independent examples of how associated extreme precipitation patterns have severe implications for high Arctic ecosystems. The events stand out in a 23-year record of continuous observations of a wide range of ecosystem parameters and act as an early indication of conditions projected to increase in the future. In NE Greenland, August
In this paper I want to examine whether the everyday distribution of music induces a mode of listening that modifies people’s relations to the history of music or not. It is indisputable that the diverse landscape of digital music platforms and music streaming services have an effect on how we perceive music as cultural texts, as commodities and as aesthetic objects. We listen on the go while at t
Background: Late-stage parkinsonism and Parkinson's disease (PD) are insufficiently studied population. Although neuropsychiatric symptoms (eg, psychosis, depression, anxiety, behavioral problems) are frequently present, their prevalence and clinical predictors remain unknown. Objective: To determine the prevalence and predictors of neuropsychiatric symptoms in late-stage PD. Methods: We conducted
The downscaling of silicon-based structures and proto-devices has now reached the single-atom scale, representing an important milestone for the development of a silicon-based quantum computer. One especially notable platform for atomic-scale device fabrication is the so-called Si:P δ-layer, consisting of an ultra-dense and sharp layer of dopants within a semiconductor host. Whilst several alterna
The fusion-evaporation reaction 28Si + 40Ca at 122 MeV beam energy was used to populate high-spin states in the odd-odd N = Z nucleus 62Ga. With the combination of the Gammasphere spectrometer and the Microball CsI(Tl) charged-particle detector array the decay scheme of 62Ga was extended beyond 10 MeV excitation energy. The onset of band structures was observed. These high-spin rotational states a
Abstract: Progranulin is a glycoprotein marking chronic inflammation in obesity and type 2 diabetes. Previous studies suggested PSRC1 (proline and serine rich coiled-coil 1) to be a target of genetic variants associated with serum progranulin levels. We aimed to identify potentially functional variants and characterize their role in regulation of PSRC1. Phylogenetic module complexity analysis (PMC
Vascular alterations emerge as a common denominator for several neurodegenerative diseases. In Parkinson’s disease (PD), a number of observations have been made suggesting that the occurrence of vascular pathology is an important pathophysiological aspect of the disease. Specifically, pathological activation of pericytes, blood-brain barrier (BBB) disruption, pathological angiogenesis and vascular
Controllable doping in semiconductor nanowires is essential for development of optoelectronic devices. Despite great progress, a fundamental challenge remains in controlling the uniformity of doping, particularly in the presence of relatively high levels of geometrical inhomogeneity in bottom-up growth. A relatively high doping level of 1E18 cm-3 corresponds to just ~1000 activated dopants in a 2µ
