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PURPOSE: Disruption of splicing motifs by genetic variants can affect the correct generation of mature mRNA molecules leading to aberrant transcripts. In some cases, variants may alter the physiological transcription profile composed of several transcripts, and an accurate in vitro evaluation is crucial to establish their pathogenicity. In this study, we have characterized a novel PALB2 variant c.
Polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (AMD) are prevalent age-related diseases characterized by exudative changes in the macula. Although they share anatomical and clinical similarities, they are also distinctly characterized by their own features, e.g. vascular abnormalities in PCV and drusen-mediated progression in neovascular AMD. PCV remains e
Niddmli, a 16-Mb locus within the major diabetes QTL in the diabetic GK rat, causes impaired glucose tolerance in the congenic NIDDM11 strain. Niddm1i is homologous to both human and mouse regions linked with type 2 diabetes susceptibility. We employed multiple QTL analyses of congenic F2 progeny selected for one recombination event within Niddm1i combined with characterization of subcongenic stra
We present a study on the stratospheric aerosol load during 2006-2015, discuss the influence from volcanism and other sources, and reconstruct an aerosol optical depth (AOD) data set in a resolution of 1° latitudinally and 8 days timewise. The purpose is to include the "entire" stratosphere, from the tropopause to the almost particle-free altitudes of the midstratosphere. A dynamic tropopause of 1
It is well recognized that organic soil management stimulates bacterial biomass and activity and that including cover crops in the rotation increases soil organic matter (SOM). Yet, to date the relative impact of different cover crop species and organic vs. non-organic soil management on soil bacteria and fungi and on SOM quantity and quality remains to be tested. We used a long-term (10 years) fu
Phylogenetic relationships within the helcionelloid molluscs have been difficult to establish. One of the reasons for this is that qualitative approaches to investigating morphological variation in this group have struggled to identify clear patterns. An alternative method of identifying these patterns is to study these organisms quantitatively. Here this approach is exemplified by employing morph
Popular Abstract in Swedish För analys av agroekosystems näringsämnescirkulation presenteras här en generell modell. I centrum står födoproduktionsintensitet, mänsklig bärförmåga, uthållighet och effektivitet. Modellen kan användas på system med flera markanvändningstyper och är därför lämpad för studier i olika skalor. Jämförelser av alla slags agroekosystem, oavsett tid och rum, är möjliga. OlikThis study presents a general model for analysing nutrient cycling in agroecosystems. The focus is on food production intensity, human carrying capacity, sustainability and efficiency. The model can be used on systems including different kinds of land uses, which makes it applicable for studies on different scales. Comparisons of all kinds of agroecosystems, independent of time and place, are made
Introduction. Along with the great expansion of research being published in Open Access (OA) journals over the last decade, the interest for analysing the OA literature using informetric methods has also increased. Most studies have focused on the citation impact of OA journals and whether OA publishing increases the chances of a research publication being cited. Fewer analyses, however, have inve
Popular Abstract in Swedish Alla levande organismer har DNA, och eftersom DNA är livsnödvändigt måste det repareras om det blir skadat. Ultraviolett (UV) strålning från solen är en av de vanligaste orsakerna till att DNA skadas. De flesta skador på DNA som orsakas av UV-strålning utgörs av cyklobutan-pyrimidindimerer (CPD) eller (6-4)-fotoprodukter. Dessa skador består av två intilliggande baser sAll living organisms have DNA and since DNA is essential to life it must be repaired when damaged. UV radiation is one of the major DNA damaging agents, which photosynthetic organisms cannot avoid. The major UV-induced DNA lesions are cyclobutane pyrimidine dimers (CPDs) and (6-4) photoproducts (6-4PPs) and the main repair pathways of theses lesions involve photolyases and various excision repair
Exposure to low temperatures requires an organism to overcome physiological challenges. New Zealand wētā belonging to the genera Hemideina and Deinacrida are found across a wide range of thermal environments and therefore subject to varying selective pressures. Here we assess the selection pressures across the wētā phylogeny, with a particular emphasis on identifying genes under positive or divers
We performed a candidate gene association study in 540 patients with primary Sjogren's Syndrome (SS) from Sweden (n = 344) and Norway (n = 196) and 532 controls (n = 319 Swedish, n = 213 Norwegian). A total of 1139 single-nucleotide polymorphisms (SNPs) in 84 genes were analyzed. In the meta-analysis of the Swedish and Norwegian cohorts, we found high signals for association between primary SS and
Apicidin is a potent histone deacetylase inhibitor (HDACI) that selectively binds to histone deacetylases (HDACs) class I and interferes with the deacetylation process, which results in modification of acetylation level of cellular proteins. The aim of the study was to investigate the potential time and dose dependent cytotoxicity of the test compound, Apicidin, in pancreatic cancer cells Capan-1
The reaction mechanism of propane ammoxidation was studied on an Al-Sb-V-W-oxide catalyst using a TAP-2 reactor system. Analyses of the responses from both high-speed pulse transients with reactants and TPD experiments were performed. Since the ammoxidation process with three reactants proceeds from propane to acrylonitrile over propylene as an intermediate, the experiments comprised oxidation of
The isolated amyloid substance in hereditary cystatin C amyloid angiopathy (HCCAA) is mainly composed of a cystatin C variant devoid of the 10 amino terminal amino acid residues of extracellular cystatin C from healthy individuals. We have developed a procedure for protein sequencing directly from agarose gel electropherograms and used this in conjunction with isoelectric focusing to investigate t
The inception of the sheet flow regime as well as the effects of the phase lag when the sheet flow regime is established were investigated for oscillatory flows and combined steady and oscillatory flows. A new criterion for the inception of sheet flow is proposed based on around 300 oscillatory flow cases from experiments. This criterion was introduced in the Camenen and Larson [Camenen, B., Larso
Purpose: There is mounting evidence that the agrammatism that defines Broca’s aphasia can be explained in processing terms. However, the extant approach simply describes agrammatism as disparate deficits in a static, mature system. This tutorial aims to motivate and outline a developmental alternative. This alternative is processability theory (PT), a root-to-apex theory of language development, w
A comprehensive understanding of local HIV epidemiology is essential for monitoring transmission, designing, implementing, and evaluating HIV intervention strategies. In paper I, we used a total of 1276 HIV-1 subtype C pol sequences and employed state-of-art phylogenetic and phylodynamic tools to describe the molecular epidemiology of HIV in Ethiopia. Our results showed that the HIV epidemic in E
The Covid-19 pandemic has revealed the importance of social protection systems, including income security, when health problems arise. The aims of this study are to compare the follow-up regimes for sick-listed employees across nine European countries, and to conduct a qualitative assessment of the differences with respect to burden and responsibility sharing between the social protection system,
BACKGROUND: Caveolin-1 (CAV1) is associated with cholesterol-rich membrane raft domains and is a master regulator of cell signaling and membrane transport. Here, we investigated CAV1's role in cellular compartments of breast cancer in relation to signaling pathways, clinicopathological features, and clinical outcomes.METHODS: CAV1 levels were evaluated with immunohistochemistry in cytoplasm of inv
