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Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mutations in this gene result in HSD10 deficiency, whereas a silent mutation results in mental retardation, X-linked, syndromic 10 (MRXS10). Here we report a novel missense mutation found in the HSD17B10 gene, namely c.194T>C(More)
Recent findings suggest that inflammation plays a role in atherosclerosis and its acute complications. Cellular response in infections with Gram-negative bacteria is mediated by bacterial lipopolysaccharide (LPS), which activates monocytes to expression of cytokines, growth factors, and procoagulatory factors via LPS receptor CD14. Endothelial cells and(More)
17β-Hydroxysteroid dehydrogenase type 10 (17β-HSD10) is encoded by the HSD17B10 gene mapping at Xp11.2. This homotetrameric mitochondrial multifunctional enzyme catalyzes the oxidation of neuroactive steroids and the degradation of isoleucine. This enzyme is capable of binding to other peptides, such as estrogen receptor α, amyloid-β, and tRNA(More)
An open pilot study on 30 in-patients with endogenous depression showed a clear-cut circadian fluctuation of the therapeutical effect of single doses of lofepramine administered at three different times of the day (8 a.m., and 12 p.m.). A single-dose drug schedule with 210 mg lofepramine at 12 p.m. also proved superior (p less than .05) to the conventional(More)
The tremendous social and economic impact of thrombotic disorders, together with the considerable risks associated to the currently available therapies, prompt for the development of more efficient and safer anticoagulants. Novel peptide-based thrombin inhibitors were identified using in silico structure-based design and further validated in vitro. The best(More)
BACKGROUND There are conflicting results on the relationship of N5,N10-methylenetetrahydrofolate reductase C677T gene variation in coronary artery disease and myocardial infarction. METHODS AND RESULTS We analysed this gene variation in 2453 male Caucasians whose coronary anatomy was defined by coronary angiography. In the total sample, the C677T gene(More)
In a pilot study of 15 depressive patients of the neurotic and endogenous type we could show that some neuroendocrinological parameters are apt to predict the thymoleptic efficacy of lofepramine. These parameters, which were measured with a simple global stimulation test (insulin hypoglycaemia combined with injection of TRH and LHRH), were as follows: high(More)
The improvement of depression after partial sleep deprivation in the second half of the night (sd) is tested for its predictory power for the therapeutical efficacy of pharmacotherapy with lofepramine. In a group of 15 patients with depression, we found that in contradiction to the findings of Wirz-Justice and collaborators (1976), the velocity of the(More)