Institution
University of Ljubljana
Education•Ljubljana, Slovenia•
About: University of Ljubljana is a education organization based out in Ljubljana, Slovenia. It is known for research contribution in the topics: Population & Liquid crystal. The organization has 17210 authors who have published 47013 publications receiving 1082684 citations. The organization is also known as: Univerza v Ljubljani.
Papers published on a yearly basis
Papers
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TL;DR: Interestingly, exposure to reactive oxygen species (ROS) scavengers dramatically increased the viability of the WB-12 transformant, suggesting that increased redox stress is involved in the pathogenesis of the disease and that anti-ROS therapy may be beneficial to patients.
Abstract: Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were found in the gene encoding the heart and skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progressive external opthalmoplegia and in a sporadic patient. We herein report on a sporadic patient who presented with hypertrophic cardiomyopathy, mild myopathy with exercise intolerance and lactic acidosis but no ophthalmoplegia. A muscle biopsy showed the presence of numerous ragged-red fibers, and Southern blot analysis disclosed multiple deletions of muscle mitochondrial DNA. Molecular analysis revealed a C to A homozygous mutation at nucleotide 368 of the ANT1 gene. The mutation converted a highly conserved alanine into an aspartic acid at codon 123 and was absent in 500 control individuals. This is the first report of a recessive mutation in the ANT1 gene. The clinical and biochemical features are different from those found in dominant ANT1 mutations, resembling those described in ANT1 knockout mice. No ATP uptake was measured in proteoliposomes reconstituted with protein extracts from the patient's muscle. The equivalent mutation in AAC2, the yeast ortholog of human ANT1, resulted in a complete loss of transport activity and in the inability to rescue the severe Oxidative Phosphorylation phenotype displayed by WB-12, an AAC1/AAC2 defective strain. Interestingly, exposure to reactive oxygen species (ROS) scavengers dramatically increased the viability of the WB-12 transformant, suggesting that increased redox stress is involved in the pathogenesis of the disease and that anti-ROS therapy may be beneficial to patients.
174 citations
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TL;DR: In this article, high density samples (97% TD) were prepared by conventional sintering technique and Mg-doped sintered samples exhibit increase in k p, some lowering in e and large increase in resistivity after prolonged sinter.
174 citations
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TL;DR: In this paper, the correlation between the contact angle, the spreading, the surface tension and the surface energy of fourteen frequently used engineering materials belonging to four different classes of materials (steel, DLC coatings, ceramics, and polymers) wetted with four different liquids: three oils (a non-polar synthetic oil of two different viscosities and a polar natural-based oil) and water.
174 citations
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TL;DR: Spectral analysis based on wavelet transformation of the periodic oscillations of the cutaneous laser Doppler flowmetry (LDF) signal is a valuable tool for use in the evaluation of exercise-induced changes in the dynamics of cutaneous microvascular blood flow, but further studies are necessary to clarify the physiological origin of these oscillations.
173 citations
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TL;DR: The results of this study partly support the assumption that long-term occupational exposure to Hg0 enhances the formation of free radicals even several years after termination of occupational exposure, and could be one of the risk factors for increased lipid peroxidation.
173 citations
Authors
Showing all 17388 results
Name | H-index | Papers | Citations |
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David Miller | 203 | 2573 | 204840 |
Hyun-Chul Kim | 176 | 4076 | 183227 |
James M. Tour | 143 | 859 | 91364 |
Carmen García | 139 | 1503 | 96925 |
Bernt Schiele | 130 | 568 | 70032 |
Vladimir Cindro | 129 | 1157 | 82000 |
Teresa Barillari | 129 | 984 | 78782 |
Sven Menke | 129 | 1121 | 82034 |
Horst Oberlack | 129 | 985 | 80069 |
Hubert Kroha | 129 | 1126 | 80746 |
Peter Schacht | 129 | 1030 | 80092 |
Siegfried Bethke | 129 | 1266 | 103520 |
Igor Mandić | 128 | 1065 | 79498 |
Stefan Kluth | 128 | 1261 | 84534 |
Andrej Gorišek | 128 | 951 | 67830 |