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Background: Genetic variants in SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin. Methods: A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.73m2), hyperkalem
Denna uppsats behandlar bankers skyldighet att återställa en persons bank konto vid obehöriga transaktioner, med särskilt fokus på bedrägerier. Ana lysen koncentreras på ansvarsfördelningen mellan konsument och bank enligt betaltjänstlagen och hur denna påverkas av konsumentens eventuella oakt samhet. Första delen av uppsatsen ägnas åt definitionen av en "obehörig transaktion". För atThis essay examines the obligation of banks to restore a person's bank account following unauthorized transactions, with a specific focus on fraudulent ac tivities. The essay centers on the distribution of liability between the con sumer and the bank under the Swedish law of payment services, and how this is influenced by the consumer's potential negligence. The initial section of the e
Since the rise of radical geography in the early 1970s, political economy has been crucial in examining the spatial dynamics of capital in economic geography. Marxist and non-Marxist (particularly institutionalist) economic geographers use political economy to challenge non-political economy approaches that ignore the relationship between microeconomic processes and their spatial manifestations an
Non-germinal center (non-GC) phenotype, high level expression of the transcription factor forkhead box protein P1 (FOXP1) and anti-apoptotic protein Bcl-2 have been identified as unfavorable prognostic factors for diffuse large B-cell lymphoma (DLBCL) patients treated with chemotherapy. Our aim was to re-evaluate the prognostic impact of these biologic factors on the survival of the patients treat
Objective: Copy number variation is a common polymorphic phenomenon within the human genome. Although the majority of these events are non-deleterious they can also be highly pathogenic. Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the a-synuclein gene (SNCA). Methods: A methodological approach us
Oxidative stress has been implicated as an important factor in the progression of many diseases. An imbalance in the redox-system may cause oxidation of cells and molecules, which might subsequently lead to tissue damage. The research presented in this thesis has focused on elucidating a possible involvement of the human protein alpha-1-microglobulin in the defence against pathological oxidation.
The present thesis is aimed to examine the hypothesis that the degree of vascular inflammation correlates with the expression of vascular endothelin and angiotensin receptors. The receptor changes were studied in subcutaneous resistance arteries in patients with different degrees of ischemic heart disease (IHD). In addition, patients with giant cell arteritis (GCA) were also investigated because o
What conformations do protein molecules populate in solution? Crystallography provides a high-resolution description of protein structure in the crystal environment, while NMR describes structure in solution but using less data. NMR structures display more variability, but is this because crystal contacts are absent or because of fewer data constraints? Here we report unexpected insight into this
Tadpoles from two types of ponds, temporary and permanent, were raised in a common garden experiment. There was no clear effect of pond type on development rate (time for metamorphosis). From each sibship, one group was raised under a constant water regime (deep tanks) and one was subject to simulated pond drying (shallow tanks). The tadpoles exhibited a plastic response to pond drying: they metam
Enzymes are the quintessential green catalysts, but realizing their full potential for biotechnology typically requires improvement of their biomolecular properties. Catalysis enhancement, however, is often accompanied by impaired stability. Here, we show how the interplay between activity and stability in enzyme optimization can be efficiently addressed by coupling two recently proposed methodolo
Sustainable development “which meets the needs of the present without compromising the ability of future generations to meet their own needs,” (WCED 1987) is a global development objective of paramount importance. However, on the ground, ‘sustainable development’ is – in my experience – often little more than a buzzword for securing grants. From a strong sus-tainability standpoint, this thesis doc
A novel strategy is presented for designing peptides with specific metal-ion chelation sites, based on linking computationally predicted ion-specific combinations of amino acid side chains coordinated at the vertices of the desired coordination polyhedron into a single polypeptide chain. With this aim, a series of computer programs have been written that 1) creates a structural combinatorial libra
This thesis is based upon four original papers describing the characterisation of mantle cell lymphoma (MCL) tumours and cell lines in comparison with different populations of normal B cells. Gene expression profiling, which were used in the studies, has during recent years developed as an important tool in characterisation of different types of malignancies. In this thesis, the technique is used
Introduction and hypothesis Urinary incontinence (UI) is common among the elderly, but the literature is sparse on the surgical treatment of UI among the elderly. This systematic review aims to assess the effectiveness of surgical interventions as treatment for urinary incontinence in the elderly population >= 65 years of age. Methods Randomized controlled trials (RCT) and prospective nonrandomize
Animal venoms and toxins are a valuable source of bioactive peptides with pharmacologic relevance as potential drug leads. A large subset of biologically active peptides discovered up till now contain disulfide bridges that enhance stability and activity. To discover new members of this class of peptides, we developed a workflow screening specifically for those peptides that contain inter- and int
Purpose To ascertain the clinical implications of high hyperdiploid (HH; 49-65 chromosomes) and tri-/tetraploid (TT; >65 chromosomes) adult acute myeloid leukemia (AML), all such cases were retrieved from the Swedish AML Registry. Results Of the 3,654 cytogenetically informative cases diagnosed between January 1997 and May 2014, 68 (1.9%) were HH (n=50)/TT (n=18). Patients with HH/TT were older th
We investigated the immunosuppressive effects of the dihydroortate dehydrogenase (DHODH) inhibitor compounds ABR-222417 and ABR-224050 from Active Biotech (Sweden). We verified the inhibitory effects of these compounds on the proliferation of CD4(+) and CD8(+) T-cells in vivo by using superantigen staphylococcus enterotoxin A (SEA)-mediated proliferation test. To evaluate their efficacy, the compo
