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Mutations in TPM2, encoding beta-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of beta-tropomyosin-associated diseases and describe an additional case with a novel mutation. The manifestations of mutations in TPM2 include non-specific congenital myop
Stejskal and Tanner's ingenious pulsed field gradient design from 1965 has made diffusion NMR and MRI the mainstay of most studies seeking to resolve microstructural information in porous systems in general and biological systems in particular. Methods extending beyond Stejskal and Tanner's design, such as double diffusion encoding (DDE) NMR and MRI, may provide novel quantifiable metrics that are
The present work describes the development of a novel direct screening method, assayed in 96-well format, for evaluation of enzymatic alkyl glycoside production in a hexanol water two-phase system. Alkyl glycosides are surfactants with a range of applications and with good biodegradability and low toxicity. Enzymatic synthesis makes it possible to prepare beta-D-glucopyranosides with high purity.
The first two studies aiming for the high-throughput identification of the somatic mutation spectrum of colorectal cancer (CRC) tumors were published in 2006 and 2007. Using exome sequencing, they described 69 and 140 candidate cancer genes (CAN genes), respectively. We hypothesized that germline variants in these genes may influence CRC risk, similar to APC, which is causing CRC through germline
Response to targeted therapies varies significantly despite shared oncogenic mutations. Nowhere is this more apparent than in BRAF(V600E)-mutated melanomas where initial drug response can be striking and yet relapse is commonplace. Resistance to BRAF inhibitors have been attributed to the activation of various receptor tyrosine kinases (RTKs) though the underlying mechanisms have been largely unch
We identified the first set of microsatellites for use in the rock firefinch (Lagonosticta sanguinodorsalis). First, we tested existing passerine microsatellite loci for cross-species amplification success in a small sample of rock firefinches and identified 10 loci that were seemingly polymorphic and easy to score. Secondly, we developed and characterized three microsatellite loci de novo from th
The rapid rise of an innovative private manufacturing economy in China challenges standard economic explanations of growth, which typically assume the existence of well-defined formal institutions such as property rights and company laws safeguarding investor and creditor interests. We highlight the social structure of cooperation that enables innovative activity in private manufacturing firms whe
Abstract in Undetermined A classical solution for matching two image patches is to use the cross-correlation coefficient. This works well if there is a lot of structure within the patches, but not so well if the patches are close to uniform. This means that some patches are matched with more confidence than others. By estimating this uncertainty, more weight can be put on the confident matches thaA classical solution for matching two image patches is to use the cross-correlation coefficient. This works well if there is a lot of structure within the patches, but not so well if the patches are close to uniform. This means that some patches are matched with more confidence than others. By estimating this uncertainty, more weight can be put on the confident matches than those that are more unc
A reply to comments by Torben Dehn, Nikolaos D. Karydis and Tim Flohr Sørensen on my article "Four churches and a lighthouse – preservaton, 'creative dismantling' or destruction"
Objective: It has been suggested that elevated levels of C-reactive protein (CRP) might interfere with leptin signalling and contribute to leptin resistance. Our aim was to assess whether plasma levels of CRP influence leptin resistance in humans, and our hypothesis was that CRP levels would modify the cross-sectional relationships between leptin and measures of adiposity. Design and methods: We a
CONTEXT: The psychosocial health and working capacity in hypopituitary patients receiving long-term growth hormone (GH) therapy are unknown. OBJECTIVE: Psychosocial health and levels of employment were compared between GH deficient (GHD) patients on long-term replacement and the general population. DESIGN AND PARTICIPANTS: In a Swedish nationwide study, 851 GHD patients [101 childhood onset (CO) a
In much of preindustrial Europe the manorial estate was an important institution in the rural economy. Despite a widespread view that the estates insured its tenants against uncertainties, there is little evidence that measures taken were efficient. This study uses the impact of grain prices on demographic outcomes as a measure of the efficiency of the manorial system in protecting its inhabitants
In this study we investigated whether single nucleotide polymorphisms (SNP) in the genes coding for BDNF (Val66Met) and VEGF (C2578A) may be associated with maladaptive strategies among suicide attempt patients. We found that BDNF Val66Met gene polymorphism probably affect avoidant coping strategies.
During GH therapy for 2.3-9.6 years a male adult onset (AO) GH deficient (GHD) patient with a diagnosis of a non-functioning adenoma, have no increased all-cause mortality. However, women with AO GHD are still at a slightly higher risk. This general improvement in mortality is due to; more contemporary regiment of cardiovascular drugs, a refinement of surgical procedures, besides GH therapy improv
Mobile communication systems are becoming increasingly heterogeneous as new standards emerge. Currently, the wireless operators are upgrading their existing 3G networks such as UMTS and CDMA2000 to different kinds of 4G networks such as LTE and WiMAX. We can witness these days that mobile terminals are having the capability to access many of these wireless network types. The networks are very diff
Dobutamine is a cardiotonic agent, developed as a racemate more than 30 years ago. The compound soon got the label "the beta 1-selective adrenoceptor agonist''. However, a closer examination of the enantiomers showed that (+)-dobutamine is predominantly a beta(1)- and beta(2)-adrenoceptor agonist with modest selectivity whereas (-)-dobutamine is predominantly an alpha(1)-adrenoceptor agonist. Neve
Five adult volunteers participated in a biokinetic study of radioactive polonium. Portions of about 10Bq of (209)Po were orally administrated to four of the volunteers in a single ingestion. The fifth volunteer ingested a daily amount of 53mBq of 209Po for 243d to study the time to achieve equilibrium between intake and excretion for protracted intakes. For the subjects ingesting single intakes of
