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Purpose: Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that c

Variant specific zinc transporter 8 autoantibodies (ZnT8A) against either arginine (R) or tryptophan (W) at amino acid (aa) position 325 of the zinc transporter 8 (ZnT8) has been identified in T1D patients. Reciprocal cross-over tests revealed differences in half-maximal binding to indicate variable affinity of patient ZnT8 autoantibodies. Insufficient recombinant ZnT8 variant proteins have preclu

This article gives an overview of the studies on the environment surrounding the Abisko Scientific Research Station in Swedish Lapland. The long-term monitoring of the Station on processes related to the climate, and to the physical, biotic, and chemical environmental conditions is particularly addressed. Some variables are recorded since more than 100 years. The obtained data in combination with

Hypoxia-induced signaling is important for normal and malignant hematopoiesis. The transcription factor hypoxia-inducible factor-1α (HIF-1α) plays a crucial role in quiescence and self-renewal of hematopoietic stem cells (HSCs) as well as leukemia-initiating cells (LICs) of acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). We have investigated the effect of HIF-1α loss on the phenot

Ng (2008) shows how the cross-sectional variance of the observed panel data can be used to construct a simple test for the proportion of non-stationary units. However, in the case with incidental trends the test is distorted. The present note shows how the distortions can be substantially reduced by the use of bias-adjustment. It also investigates the local power of the bias-adjusted test, which i

We report growth by molecular beam epitaxy and structural characterization of gallium-nucleated GaAs nanowires on silicon. The influences of growth temperature and V/III ratio are investigated and compared in the case of oxide-covered and oxide-free substrates. We demonstrate a precise positioning process for Ga-nucleated GaAs nanowires using a hole array in a dielectric layer thermally grown on s

We examine a special case of inquiry games inspired by Hintikka's interrogative model of inquiry, and give an account of the informational import of asking questions. We focus on yes-no questions, which always carry information about the questioner's strategy, but never about the state of Nature, and show how strategic information reduces uncertainty through inferences about other players' goals a

A sensitivity and elasticity analysis is performed on historical life-tables, that of Swedish females from 1751-1755 and 1966-1970, i.e. during and after the Little Ice Age. Coupled with life-history theory, this approach supplies us with some ideas on how stature can be understood as a proxy for conditions during the intrauterine growth, important if we aspire to calibrate proposed climatic pertu

This short subject assessing the current state of the academic field of film studies as practiced at sites of higher learning in Sweden is based on experiences and knowledge the co-authors gained as members of a national committee to evaluate the ‘academic quality’ of programmes from a comparative point of view.

In this article we test current knowledge of policy implementation in multi-level governance systems and focus on the case of transport biofuels. The EU biofuel directive is a highly debated case with a disappointing implementation record. We probe a set of implementation hypotheses in a qualitative comparative analysis, offering a systematic comparison of ten member states between 2003 and 2006.

Although deep brain electrical stimulation can alleviate the motor symptoms of Parkinson disease (PD), just a small fraction of patients with PD can take advantage of this procedure due to its invasive nature. A significantly less invasive method-epidural spinal cord stimulation (SCS)-has been suggested as an alternative approach for symptomatic treatment of PD. However, the mechanisms underlying

Alcohol-related falls are recognized as a major contributor to the occurrence of traumatic brain injury. The control of upright standing balance is complex and composes of contributions from several partly independent mechanisms such as appropriate information from multiple sensory systems and correct feedback and feed forward movement control. Analysis of multisegmented body movement offers a rar

The survival rates of infants born preterm with extremely low birth weight (ELBW a parts per thousand currency sign 1000 g) have gradually improved over the last decades. However, these infants risk to sustain long-term disorders related to poor neurodevelopment. The objective was to determine whether adolescents born with ELBW have decreased postural control and stability adaptation. Twenty-nine

In the present study, natural and anthropogenic sources of particulate organic carbon (OCp) and elemental carbon (EC) have been quantified based on weekly filter samples of PM10 (particles with aerodynamic diameter < 10 mu m) collected at four Nordic rural background sites [Birkenes (Norway), Hyytiala (Finland), Vavihill (Sweden), Lille Valby, (Denmark)] during late summer (5 August-2 September 20

Objectives: To describe change in functional ability in the oldest-old population during 3 years and examine its relation to life satisfaction (LS). A total of 681 individuals aged 78 and older from the population-based study Good Aging in Skane took part. Methods: Functional ability was assessed using Sonn and Asberg's Activities of Daily Living (ADL) scale and related to LS assessed by Neugarten

Hypothermia has been reported to reduce infarct size (IS) in patients with ST segment elevation myocardial infarction (STEMI). We aimed to confirm the cardioprotective effects of hypothermia using a combination of cold saline and endovascular cooling.