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We serendipitously identified a single nucleotide polymorphism (SNP), 8636C > A (rs1804197) in the T-untranslated region of the adenomatous polyposis coli (APC) gene to be associated with autism spectrum disorder (ASD). In order to gain further evidence for the association between the APC locus and ASD, we genotyped four additional adjacent common SNPs (rs2229992, rs42427, rs459552, and rs465899)

The reaction mechanism of cellobiose dehydrogenase (CDH) from Phanerochaete chrysosporium, adsorbed on graphite electrodes, was investigated by following its catalytic reaction with cellobiose registered in both direct and mediated electron transfer modes between the enzyme and the electrode. A wall-jet flow through amperometric cell housing the CDH-modified graphite electrode was connected to a s

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

The members of the laminin family of heterotrimers are major constituents of all basement membranes, sheet-like extracellular structures, present in almost all organs. The laminins bind to cell surface receptors and thereby tightly connect the basement membrane to the adjacent cell layer. This provides for the specific basement membrane functions to stabilize cellular structures, to serve as effec

Perspective-Based Reading (PBR) is a scenario based inspection technique where several reviewers read a document from different perspectives (e.g. user, designer, tester). The reading is made according to a special scenario, specific for each perspective. The basic assumption behind PBR is that the perspectives find different defects and a combination of several perspectives detects more defects c

BACKGROUND: We have performed a prospective qualitative investigation of the ICU syndrome/delirium; the main parts of which have recently been published. The aim of the present study was to explore the relationship between the ICU syndrome/delirium and age, gender, length of ventilator treatment, length of stay and severity of disease, as well as factors related to arterial oxygenation and the amo

The calcitonin gene-related peptide (CGRP) is a 37 residue neuropeptide which causes vasodilatation, increases heart rate and inhibits bone resorption. These effects make it an interesting lead for drug discovery. We have combined current structural and biological information to model the structure of hCGRP-beta to be used as a basis for the rational design of novel analogues. Distinct regions of

The expression of lymphocyte surface markers as well as the production of interleukin-2 (IL-2) and interferon-gamma (IFN) by mitogen-stimulated peripheral blood mononuclear cells (MNC) have been studied in five children with constitutional aplastic anemia. A significantly reduced T4/T8 ratio was found and two of five patients also had a reduced percentage of B cells. One patient had a high percent

Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease with no known single predisposing genetic factor shown in all cases. Recently, a single nucleotide polymorphism (SNP) T393C in the GNAS1 gene has been reported to have a clinical impact on CLL progression and overall survival. In order to further investigate the T393C SNP in CLL, we have genotyped 279 CLL cases and correlated

This conceptual paper investigates the way in which some Swiss watch firms respond to innovativeness, their capacity to innovate, and their engagement in the innovation process. A purposeful (judgmental) stratified sampling method was employed, where in-depth interviews with thirteen marketing managers and owners, was carried out over a three-month period. Meaning units (MUs) were abstracted, to c

TBX22 belongs to the T-box family of transcription factors and was originally found in an in silico approach designed to identify new genes on the human Xq12-q21 region. Mutations in TBX22 have been reported in families with X-linked cleft palate and ankyloglossia (CPX), but the underlying pathogenetic mechanism remained unknown. We have identified mouse Tbx22 and analyzed its expression during em

In a naturalistic newspaper reading study, two pairs of information graphics have been designed to study the effects of a) the spatial contiguity principle and b) the dual scripting principle by means of eye tracking measurements. Our data clearly show that different spatial layouts have a significant effect on readers’ eye movement behaviour. An integrated format with spatial contiguity between t

This paper discusses a general class of ladder resummation inspired hadronic approximations. It is found that this approach naturally reproduces many successes of single meson per channel saturation models (e.g. VMD) and NJL based models. In particular the existence of a constituent quark mass and a gap equation follows naturally. We construct an approximation that satisfies a large set of QCD sho

Results on the global existence of classical solutions for quasilinear parabolic equations in bounded domains with homogeneous Dirichlet or Neumann boundary conditions are presented. Besides quasilinear parabolic equations, the method is also applicable to some weakly-coupled reaction-diffusion systems and to elliptic equations with nonlinear dynamic boundary conditions.

In many cases it is desired to have both high capacity and small antennas in wireless communication systems. Unfortunately, the antenna performance deteriorate when the antennas get electrically small. In this paper fundamental limitations from antenna theory and broadband matching are used to analyze the spectral efficiency of an arbitrary antenna inserted inside a sphere.

Diabetes frequently develops in Huntington's disease (HD) patients and in transgenic mouse models of HD such as the R6/2 mouse. The underlying mechanisms have not been clarified. Elucidating the pathogenesis of diabetes in HD would improve our understanding of the molecular mechanisms involved in HD neuropathology. With this aim, we examined our colony of R6/2 mice with respect to glucose homeosta

We have previously demonstrated intracellular degradation of the heparan sulfate side-chains in recycling glypican-1 by heparanase and by deaminative cleavage at N-unsubstituted glucosamine with nitric oxide derived from intrinsic nitrosothiols [see Ding, K., Mani, K., Cheng, F., Belting, M. and Fransson, L.-. (2002) J. Biol. Chem., 277, xxx-xxx; prepub M203383200]. To determine where and in what

We have earlier shown that galectin-3, a lactose-binding mammalian lectin that is secreted from activated macrophages, basophils, and mast cells, induces activation of the NADPH oxidase in exudated but not in peripheral blood neutrophils (A. Karlsson, P. Follin, H. Leffler, and C. Dahlgren, Blood 91:3430-3438, 1998). The alteration in responsiveness occurring during extravasation correlated with m