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Methionine adenosyltransferase (MAT) I/III deficiency can be inherited as autosomal dominant (AD) or as recessive (AR) traits in which mono- or bi-allelic MAT1A mutations have been identified, respectively. Although most patients have benign clinical outcomes, some with the AR form have neurological deficits. Here we describe 16 Korean patients with MAT I/III deficiency from 15 unrelated families

Current therapy for haemophilia A is guided by severity of the disease, which in turn is best reflected in patients' endogenous factor VIII activity levels. For patients with severe haemophilia (particularly children), prophylaxis with continuous routine factor replacement has become standard of care in developed countries and is gradually becoming the standard of care in developing countries. The

Leukotriene D(4) (LTD(4)) belongs to the bioactive lipid group known as eicosanoids and has implications in pathological processes such as inflammation and cancer. Leukotriene D(4) exerts its effects mainly through two different G-protein-coupled receptors, CysLT(1) and CysLT(2). The high affinity LTD(4) receptor CysLT(1)R exhibits tumor-promoting properties by triggering cell proliferation, survi

Abstract – A major question in organizations is how to synchronize business processes with ICT in order to get the support they need from the adopted technology. Adoption of standardized software packages such as enterprise resource planning (ERP) systems aims at being the solution, demanding that either the system is adjusted to existing business processes or that the business processes are adjus

We analyse late summer phenology, abundance, and diversity of waders and waterfowl on a small gravel island, Kosa, on the western shore of Lake Baikal, eastern Siberia. We expected that the assemblages of waterbirds at such a small-scale, low quality roosting site would be characterised by lower species-diversity and numbers compared with high-quality staging sites like coastal mudflats. In compar

Ligand-induced activation of the beta-receptor for platelet-derived growth factor (PDGF) induces tyrosine phosphorylation of a number of downstream signaling proteins. In the present study, we used two-dimensional gel electrophoresis to characterize the spectrum of proteins phosphorylated in response to PDGF stimulation in porcine aortic endothelial cells expressing PDGF beta-receptors. Several pr

The relationship between the receptors for the Epstein-Barr virus (EBV) and the C3d fragment of complement was investigated at the molecular level. In the presence of cell-bound C3, virus binding was enhanced in EBV genome-carrying lines. An identical effect could be elicited by C3d at one-quarter the weight amount; C3b and methylamine-treated C3 had no effect on virus binding. The minimum concent

Insufficient attention has been paid to both the relationship between mass customization capability and operational performance and the contingency factors affecting this relationship. We propose a model that conceptualizes the relationship between mass customization capability, flexibility performance, and cost performance. The hypotheses are empirically tested using data collected from 5th round