Background-The upstream transcription factor 1 (USF1) gene is associated with familial combined hyperlipidemia, the most common genetic dyslipidemia in humans, as well as with various dyslipidemic changes in numerous other studies. Typical of complex disease-associated genes, neither the explicit mutations have been described nor the functional consequences for risk allele carriers been reported a

We present a novel method for investigating subsite-substrate interactions of glycoside hydrolases and the determination of the oligosaccharide cleavage point based on the analysis of the hydrolysis products produced in the presence of (18)O-labelled water. Conventional techniques for such determination of the hydrolysis pattern call for the chemical modification of the substrate, whereas the meth

BACKGROUND: Functional characteristics of the pharynx and upper esophagus, including aspiration episodes, were investigated in 14 awake volunteers during various levels of partial neuromuscular block. Pharyngeal function was evaluated using videoradiography and computerized pharyngeal manometry during contrast bolus swallowing. METHODS: Measurements of pharyngeal constrictor muscle function (contr

The influence of temperature on the growth of the mould Penicillium roqueforti growing on malt extract agar was studied by correlating the produced heat (measured by isothermal calorimetry), ergosterol content (quantified by GC-MS/MS) and biomass of the mould at 10, 15, 20, 25 and 30°C. The results were analysed with a simple metabolic model from which the metabolic efficiency was calculated. The

Iddm14 (formerly Iddm4) is a non-MHC-linked genetic locus associated with autoimmune diabetes. Its effects have been well-documented in BB-derived rats in which diabetes is either induced by immunologic perturbation or occurs spontaneously. The role of Iddm14 in non-BB rat strains is unknown. Our goal was to extend the analysis of Iddm14 in new diabetes-susceptible strains and to identify candidat

Twenty-six fully sequenced archaeal genomes were searched for genes coding for putative deoxyribonucleoside kinases (dNKs). We identified only 5 human-like thymidine kinase 1 genes (TK1s) and none for non-TK1 kinases. Four TK1s were identified in the Euryarchaea and one was found in the Crenarchaea, while none was found in Nanoarchaeum. The identified TK1s have high identity to Gram-positive bacte

A study of past lake-level changes in Lake Xinias covering the last 40 000 years was presented in an earlier paper. In that paper.. changes during the Holocene were only briefly dealt with. because of poor sedimentary representation. In this paper a Supplementary transect of cores is described, in which Holocene lake-level changes are better recorded. The correlation of the cores was based on poll

The viscoelastic properties of several multicomponent materials (including both particulate multipolymeric materials and multilayer polymer blends) were investigated in relation to their microstructures and phase-property dependencies. Theoretical considerations based on mechanical modeling were used to explore the origin of additional mechanical transitions in experimental viscoelastic spectra. T

Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to con

Three primary hypotheses currently prevail for correlations between heterozygosity at a set of molecular markers and fitness in natural populations. First, multilocus heterozygosity- fitness correlations might result from selection acting directly on the scored loci, such as at particular allozyme loci. Second, significant levels of linkage disequilibrium, as in recently bottlenecked-and-expanded

Mating pattern and gene flow were studied in the contact zone between two morphologically very similar Chiffchaff taxa (Phylloscopus collybita, P. brehmii) in SW France and northern Spain. Mating was assortative in brehmii, but not in collybita. Mixed matings were strongly asymmetric (excess of callybita male x brehmii female pairs), but did produce viable offspring in some cases. Sequence diverge

The reliable detection of a superoxide anion radical O-2(.-) - is complicated by its spontaneous dismutation reaction to H2O2 at acidic pHs. To simultaneously detect both O-2(.-) and H2O2 produced in the course of its spontaneous dismutation, an electrochemical two-electrode system based on cytochrome c (cyt c) and recombinant horseradish peroxidase (rHRP) was applied. Therewith, a limited applica

Polyproline type II stretches are somewhat rare on proteins. The backbone of this secondary structural element folds to a triangular form instead of the normal alpha -helix with 3.6 residues per turn. It is a very challenging task to try to detect them computationally from protein sequence. Here, we have studied the preprocessing phase in particular, which is important for any machine learning met

Assessment of impairment and function is essential in order to monitor joint status and evaluate therapeutic interventions in patients with haemophilia. The improvements in the treatment of haemophilia have required the development of more sensitive tools to detect the more minor dysfunctions that may now be apparent. This paper outlines some of the recent developments in this field. The Haemophil