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Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious varian

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The preferences of some woodland understorey species for ammonium and nitrate were investigated by measuring the potential nitrification (conversion of ammonium to nitrate) in the rhizosphere compared with the bulk soil. Less acid-tolerant species, which usually prefer nitrate or a mixture of ammonium and nitrate in hydroponic culture, should have a higher potential nitrification in the rhizospher

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The binding of factor IX to cultured bovine endothelial cells was characterized using isolated domains of bovine factor IX. An NH2-terminal fragment that consists of the gamma-carboxyglutamic acid (Gla) region linked to the two epidermal growth factor (EGF)-like domains bound to the endothelial cells with the same affinity as intact factor IX, indicating that the serine protease part of factor IX

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Objective: To develop an enzyme linked immunosorbent assay (ELISA) to quantify the levels of specific aggrecan fragments generated by aggrecanase-mediated cleavage at the (373)Glu-(374)Ala bond within the aggrecan interglobular domain. Methods: The ELISA employs a commercially available monoclonal antibody to capture aggrecan fragments containing keratan sulfate (KS). Aggrecan fragments generated

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We present a new method for quantification of the coupling efficiency between amphiphilic oligonucleotides and suspended small unilamellar lipid vesicles (SUVs). The method employs a supported (phospho) lipid bilayer (SLB)-modified sensor template, which upon exposure to a mixture of SUVs and amphiphilic DNA reacts neither with free SUVs nor with DNA-modified SUVs, but with free DNA only. Using ca

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Previous cytogenetic and comparative genomic hybridization (CGH) analyses have shown that the gain of chromosome arm 12p is frequent in pancreatic carcinomas. We investigated 15 pancreatic carcinoma cell lines using CGH, fluorescence in situ hybridization (FISH), and semiquantitative polymerase chain reaction (PCR) to characterize 12p amplifications in detail. The CGH analysis revealed gains of 12

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The DNA ploidy level of 673 accessions belonging to 238 species of Hieracium have been analyzed by flow cytometry. 222 of the species were of Scandinavian origin as members of the exclusively apomictic H. sectt. Bifida, Hieracium, Oreadea, Tridentata and Vulgata. For the overwhelming majority of the species, the ploidy level (or chromosme number) has never been investigated before. Approximately 5

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Western style diets and lifestyles are associated with increasing rates of obesity, diabetes and insulin resistance. Higher circulating insulin levels may modulate cell proliferation and apoptosis either directly or indirectly by increasing the bioactivity of IGF-I and decreasing the bioactivity of some of its binding proteins. The objective of this study was to determine the association of increa

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The structural basis for the biological specificity of human cystatin C has been investigated. Cystatin C and other inhibitors belonging to family 2 of the cystatin superfamily interact reversibly with target peptidases, seemingly by independent affinity contributions from a wedge-shaped binding region built from two loop-forming inhibitor segments and a binding region corresponding to the N-termi

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The adsorption of Ga(III) at the water-alpha-FeOOH (goethite) interface has been investigated by means of quantitative adsorption experiments, extended X-ray absorption fine structure (EXAFS) spectroscopy, and surface complexation modeling. Under the conditions studied, pH range 3-11 and surface coverages of 0.9-3.2 mu mol/m(2), Ga(III) was found to adsorb strongly to alpha-FeOOH, and the surface

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[1] Mires are key landscape elements at high latitudes and have certainly accumulated carbon during the Holocene, but their current carbon balance at the present time is very unclear. The major carbon flux is the land-atmosphere CO2 exchange and full-year data are still limited. Here we present data from 3 a (2001-2003) of continuous Eddy Covariance measurements at Degero Stormyr (64 degrees 11'N,

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1. Using data from a 9-year study of the great reed warbler Acrocephalus arundinaceus L. carried out in Sweden, I tested the main assumption of the polygyny threshold model (that there is a cost of polygyny) and the main prediction (that this cost is compensated for). The main question was whether a female that chose a mated male (secondary females) experienced the same fitness as a female that at

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BACKGROUND. Patients with the familial syndrome hereditary nonpolyposis colorectal carcinoma (HNPCC) exhibit air increased risk for several tumor types, of which the greatest lifetime risk is for colorectal and endometrial carcinoma. HNPCC is caused by a germline mutation in one of several identified mismatch repair (MMR) genes and typically presents with microsatellite instability (MSI) and frequ

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Phenotypic plasticity may enable organisms to optimize their phenotypes in environments that are heterogeneous over time or space. For example, inducible defenses are favored for prey populations faced with variable predation risk. We studied the impact of brook trout (Salvelinus fontinalis) on the development of defensive morphological characters in larvae of the mayfly, Drunella coloradensis, bo

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Collagen XVI is a minor component of at least two different extracellular fibrillar networks of specialized regions of skin and cartilage. In skin, collagen XVI is integrated into particular fibrillin-rich microfibrils lacking an amorphous elastin core. In cartilage, collagen XVI is a component of small heterotypic D-banded fibrils, mainly occurring in the territorial matrix of chondrocytes. Here,