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Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of conjugated bilirubin in the blood, resulting in jaundice. The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome, an autosomal(More)
In this paper I investigate the System of fuzzy relation equations with inf → composition. I compare this system with the system of fuzzy relation equations with sup − *-composition. The purpose of this contribution is to show that there are many things which are common for both systems with sup − * and inf →-composition operations. K e y w o r d s: System(More)
Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration and has an age of onset in the third decade of life or later. The genetic and molecular basis of the disease has remained unknown for many years. We carried out linkage mapping,(More)
We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our(More)
(project nr. 011S01106) and projects MSM6198898701 of the M ˇ SMTČR and IAA108270902 of the GAAVČR. Abstract—It is well known that a fuzzy rule base can be interpreted in different ways. From a logical point of view, the conjunctive interpretation is preferred, while from a practical point of view, the disjunctive interpretation has been dominantly present.(More)
Mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A: alpha -glucosaminide N-acetyltransferase (N-acetyltransferase), which leads to impaired degradation of heparan sulfate. We report the narrowing of the candidate region to a(More)
BACKGROUND To strengthen research and differential diagnostics of mitochondrial disorders, we constructed and validated an oligonucleotide microarray (h-MitoArray) allowing expression analysis of 1632 human genes involved in mitochondrial biology, cell cycle regulation, signal transduction and apoptosis. Using h-MitoArray we analyzed gene expression(More)
The success of DNA expression microarrays has been followed by applications of this technology to molecular diagnosis, mainly in the fields of biology and medicine. The experiments described below apply microarray diagnosis to agriculture. This report presents results of field tests for a DNA microarray designed to diagnose major viral potato pathogens. The(More)
A degradable copolymer of L-lactide and glycolide (PLG) was synthesized by ring opening polymerization using zirconium acetylacetonate [Zr(acac)(4)] as a biocompatible initiator. The structure of the copolymer was studied by nuclear magnetic resonance spectroscopy (NMR) and gel permeation chromatography (GPC). Porous scaffolds of defined microstructure were(More)