Filetype
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands
In this contribution we study the balloon angioplasty in a residually stressed artery by means of a non-local gradient-enhanced fibre damage model. The balloon angioplasty is a common surgical intervention used to extend or reopen narrowed blood vessels in order to restore the continuous blood flow in, for instance, atherosclerotic arteries. Inelastic, i.e. predominantly damage-related and elastop
Candida albicans binds and utilizes human complement inhibitors, such as C4b-binding protein (C4BP), Factor H, and FHL-1 for immune evasion. Here, we identify Candida pH-regulated antigen 1 (Pra1) as the first fungal C4BP-binding protein. Recombinant Pra1 binds C4BP, as shown by ELISA and isothermal titration calorimetry, and the Pra1-C4BP interaction is ionic in nature. The Pra1 binding domains w
Street-level visualization is an important application of 3D city models. Challenges to street-level visualization include the cluttering of buildings due to fine detail and visualization performance. In this paper, a novel method is proposed for street-level visualization based on visual saliency evaluation. The basic idea of the method is to preserve these salient buildings in a scene while remo
This paper simulates the impact across household types of fully funded tax reforms designed to increase consumers’ fiber intake from grain consumption. Our results suggest that household types with the highest initial consumption share of fiber-rich products—i.e., households without children (seniors, couples without children, and single women without children)—experience the highest increase in f
In this work the pre- to main chamber ignition process is studied in a Wärtsilä 34SG spark-ignited lean burn four-stroke large bore optical engine (bore 340 mm) operating on natural gas. Unburnt and burnt gas regions in planar cross-sections of the combustion chamber are identified by means of planar laser induced fluorescence (PLIF) from acetone seeded to the fuel. The emerging jets from the pre-
Complementary experimental techniques and ab initio calculations were used to determine the origin and nature of negative thermal expansion (NTE) in the archetype metal-organic framework MOF-5 (Zn4O(1,4-benzenedicarboxylate) (3)). The organic linker was probed by inelastic neutron scattering under vacuum and at a gas pressure of 175 bar to distinguish between the pressure and temperature responses
Predators exert strong regulating forces on lower trophic levels through predation. As most fish are visual foragers, visual conditions in the water may alter the strength of this regulation. We evaluated effects of turbidity and humic water on foraging efficiency and prey-size selectivity in Northern pike (Esox lucius) feeding on roach (Rutilus rutilus). Encounter rates decreased in both turbid a
The post-impact Dalby Limestone (Kulcruse; Upper Ordovician) of the Tvaren crater, southeastern Sweden, has been analysed with regards to polychaetes, as represented by scolecodonts. A palaeoecological succession is observed in the Tvaren-2 drill core sequence, as the vacant ecospace was successively filled by a range of benthonic, nektonic and planktonic organisms. Scolecodonts belong to the firs
Tidigare forskning som berör våldet under kriget i Bosnien och Hercegovina presenterar en ensidig bild av fenomenet ”krigsvåld.” Forskare har uppmärksammat betydelsen av efterkrigsberättelser, men de har inte uppmärksammat berättelser om krigsvåld, eller analyserat berättelserna om krigsvåld som en produkt av mellanmänsklig interaktion. Denna artikel försöker fylla denna kunskapslucka genom att anPrevious research on violence during the war in Bosnia and Herzegovina presents a one-sided picture of the phenomenon ”war violence.” Researchers have emphasized the importance of narratives but they have not focused on stories about war violence, nor have they analyzed the stories of war violence being a product of interpersonal interaction. This article tries to fill this knowledge gap by analyz
Older adults prefer to age in place, necessitating a match between person and environment, or person-environment (P-E) fit. In occupational therapy practice, home modifications can support independence, but more knowledge is needed to optimize interventions targeting the housing situation of older adults. In response, this study aimed to explore the accessibility and usability of the home environm
Gas turbines are widely used for aircraft propulsion, land-base power generation, and other industrial applications like trains, marines, automobiles, etc. To satisfy the fast development of advanced gas turbines, the operating temperature must be increased to improve the thermal efficiency and output work of the gas turbine engine. However, the heat transferred to the turbine blade is substantial
BACKGROUND AND AIMS: Vanin-1 (gene name VNN1) is an enzyme with pantetheinase activity generating the amino-thiol cysteamine which is implicated in the regulation of red-ox status through its effect on glutathione. We tested the hypothesis that the rs2294757 VNN1 T26I polymorphism could affect blood pressure (BP) levels, hypertension prevalence, and risk of incident cardiovascular events. METHODS
There are inconsistent and limited data available to assess the relationship between fat intake and risk of epithelial ovarian cancer (EOC). We examined the consumption of total fat, fat sources and fat subtypes in relation to risk of EOC and its major histologic subtypes in the European Prospective Investigation into Cancer and Nutrition which includes incident invasive (n=1095) and borderline (n
We demonstrate a single DNA molecule optical mapping assay able to resolve a specific Escherichia coli strain from other strains. The assay is based on competitive binding of the fluorescent dye YOYO-1 and the AT-specific antibiotic netropsin. The optical map is visualized by stretching the DNA molecules in nanofluidic channels. We optimize the experimental conditions to obtain reproducible barcod
The European common fisheries policy (CFP) advocates measures to sustain small-scale fisheries; hence, in the European Commission's proposal for a reformed CFP, these are exempted from a mandatory system with tradable fishing concessions. This opens up for management actions designed for small-scale fisheries, but also implies new management issues. This article provides insights into the topic ba
