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  1. 12 Journal of Applied Genetics

  2. 8 Acta Neurobiologiae Experimentalis

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  1. 1 2010

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  5. 4 2005

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  1. 3 Jura J.

  2. 3 Kalak R.

  3. 3 Lipinski D.

  4. 3 Slomski R.

  5. 3 Smorag Z.

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1

Molecular diagnostics of promyelocytic leukaemia

100%
Kocki J., Constantinou M., Cioch M., Lancut M., Kaluzewski B., Dmoszynska A., Wojcierowski J.
Journal of Applied Genetics
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2003
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vol. 44
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issue 4
553-556
EN
Acute promyelocytic leukaemia (APL) is characterised by proliferation of abnormal promyelocytes. The reciprocal translocation between the long arms of chromosomes 15 and 17, and the fusion between the retinoic acid receptor (RARa) gene, and PML gene, is unique to APL. Because of unsuccessful cytogenetic analysis of conventional G-banding technique (mitoses were not observed), we diagnosed three non-treatment patients with APL by following molecular methods: reverse transcription ? polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH). At the time of diagnosis our patients showed reciprocal translocation t(15;17)(q22;q12) in all cases studied (66-85% of positive bone marrow cells). With the use of CGH we observed the unbalanced chromosomal aberrations: losses of 5q13.1, 5q31.3, 9p21 regions, gain of 5q32 region and trisomy of 18 chromosome.
2

Human aldehyde dehydrogenase (ALDH)

100%
Jelski W., Chrostek L., Szmitkowski M.
Postępy Higieny i Medycyny Doświadczalnej
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2001
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vol. 55
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issue 2
339-348
EN
The paper presents the molecular and kinetics aspects of aldehyde dehydrogenase polymorphism. The role in acetaldehyde metabolism and differences in substrate specificity of isoenzymes are discussed.
3
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Oscillatory cortical activities in the gamma band in the human EEG induced by visual stimuli - representation of the stimulus?

80%
Muller M. M.
Acta Neurobiologiae Experimentalis
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2000
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vol. 60
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issue 1
49-65
EN
The present work presents three experiments investigating cortical activities in the gamma band in humans. On the basis of theoretical models and animal experiments, synchronized oscillatory neuronal activity is discussed as the key mechanism by which the brain binds information processesed in different cortical areas to form a percept. Using an identical stimulation design - the same as used in animal studies - it was shown that induced gamma band responses in the EEG resemble the same features as those found in the intracortical recordings of animals. In addition, the present work demonstrates that these cortical activities are not higher harmonics of the alpha band and that they are senstive to the features of the stimulus. These results support the notion that gamma band activity is not just a by-product of neuronal activity and that alpha- and gamma band activies most certainly represent different cortical funtional states.
4
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Asymmetry of the discrimination function for temporal durations in human subjects

80%
Wackermann J., Spati J.
Acta Neurobiologiae Experimentalis
|
2006
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vol. 66
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issue 3
245-254
EN
Ten human subjects were comparing durations of pairs of visual stimuli in a two-way forced-choice task. Mean durations of presented time intervals were ~3 s ('short') or ~6 s ('long'); the duration ratio was varied at nine levels. The Weber fractions for the short and long durations were approximately equal, ~0.22. The ratio of subjective equality was almost exactly unity for the short durations, but it was significantly reduced (~0.76) for the long durations. This asymmetry of the discrimination function indicates time-dependent change of internal representations of past durations, and is well compatible with the 'dual klepsydra model'. Model-based estimates of the internal time representation loss rate, derived from the present data, are in a good agreement with values obtained from earlier studies on duration reproduction.
5

Characterization of human hepatocytes isolated from non-transplantable livers

80%
Laba A., Ostrowska A., Patrzalek D., Paradowski L., Lange A.
Archivum Immunologiae et Therapiae Experimentalis
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2005
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vol. 53
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issue 5
442-453
EN
The successful use of hepatocytes depends on a reliable demonstration of the functional and morphological integrity of isolated cells. Herein we investigated whether the isolation and cryopreservation of primary human hepatocytes can compromise cell viability and liver-specific characteristics. Hepatocytes were isolated from encapsulated human liver segments by a modified 2-step perfusion technique. Isolated cells were Percoll-purified, cryopreserved, and stored in liquid nitrogen for 1?12 months. For rapid assessment of fresh and cryopreserve/thawed hepatocyte yield and viability, the cells were stained with trypan blue or labeled with fluorochromes. For immunocytochemical analysis, the cells were labeled with monoclonal antibodies for the presence of the following antigens and chemokines: CD3, CD45Ro, CD45Ra, CD34, CD68, CD90, CD95, CD20, HLA-DR, Ki67, PCNA, Bcl-2, p53, CXCR3, CXCR4, and SDF-1. The cells were tested for several specific functions, such as ureagenesis, energy status, MTT activity, lactate dehydrogenase leakage, and total CYP450 content. Assessment of both freshly isolated (Percoll-purified) and cryopreserved/thawed hepatocytes revealed a low constitutive level of contamination by non-parenchymal cells compared with crude (unpurified) preparations and tissue sections. All viable hepatocytes showed intact morphology and retained CYP450 protein, energy status, and urea synthesis. Modifications in hepatocyte preparations, such as depletion of dead, damaged, and non-parenchymal cells, improves cell purity, which can be adapted to further evaluation of hepatocyte immunogenicity. These data illustrate the importance and feasibility of human hepatocyte banking.
6

Analysis of polymorphism of three human Y-chromosome STR loci: DYS390, DYS392 and DYS393 in the population of northern Poland

80%
Rebala K., Kapinska E., Szczerkowska Z.
Journal of Applied Genetics
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2003
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vol. 44
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issue 2
219-223
EN
The study aimed at development of a multiplex PCR system for amplification of three Y-chromosome STR loci: DYS390, DYS392 and DYS393, and its application in haplotype polymorphism analysis in the population of northern Poland. Due to interactions between originally published primers, a new DYS392 primer pair was proposed. In a population of 158 unrelated males, 28 different haplotypes could be observed, 12 of which were seen only once. The haplotype diversity is 0.805. Distribution of haplotypes of the studied loci is specific to the population of northern Poland and distinguishes it from compared West-European populations. To our knowledge, this is the first report on a Y-STR multiplex system that can be analysed on native polyacrylamide gels.
7

Molecular studies in osteogenesis imperfecta (OI). III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

80%
Sucharski P., Sanak M., Kostyk E., Pietrzyk J. J., Kruczek A.
Journal of Applied Genetics
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1998
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vol. 39
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issue 4
367-373
EN
A BESS-T-Scan analysis of cDNA COL1A1 and COL1A2 obtained by RT-PCR derived from five patients with sporadic forms of ostegenesis imperfecta was performed. The study was done in four patients with type I and one patient with type III OI. The analysis revealed the presence of structural changes in two regions of cDNA COL1A1 in two patients. No quantitative changes referring to COL1A2 gene were noted in any patient. The above analysis was the first application of the BESS-T-Scan technique in a molecular diagnosis of OI. The applied method seems to be useful and fulfil the basic criteria of the screening method to detect and locate mutations.
8
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Novel environment as astress- -inducing factor. An event-related potentials study

80%
Michalski A.
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vol. 58
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issue 3
199-205
EN
The effect of stress induced by the novelty of a situation was evaluated by means of event-related potentials (ERPs). Potentials, recorded with Fz, Cz and Pz electrodes, were evoked by flashing red and yellow LED diodes. A standard 'odd ball' procedure was used, in which flashes of one color were mentally counted (target stimuli). ERPs evoked by target and non-target stimuli recorded in the first session of the experiment were compared with those recorded at least 40 min later. The early waves and P200 components indicated the increased responsiveness during the initial sessions. Amplitudes of both components were significantly larger. Latencies of the early waves were also significantly shorter. The effects were present in responses to both target and non-target stimuli. In contrast, the latency of P300 wave was significantly elongated during the first recording. Grand-averaged curves indicated also a reduction of P300 amplitude, but when individual waves were analyzed, the effect did not reach the level of statistical significance. It was suggested that the novel situation could be employed as a model of relatively pure stress, useful in the interpretation of other results such as the effects of pain.
9
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Reduction of EEG power during expectancy periods in humans

80%
Gomez C. M., Vaquero E., Lopez-Mendoza D., Gonzalez-Rosa J., Vazquez-Marrufo M.
Acta Neurobiologiae Experimentalis
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2004
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vol. 64
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issue 2
143-151
EN
The contingent negative variation (CNV), and the associated event-related desynchronization (ERD) on motor areas and sensory areas, and increase of alpha in the ipsilateral to the cued stimulus side, are different brain signals that reflect motor, sensory, and cognitive activations related to the expectancy of the next stimulus. However, the possibility of an overall change in EEG oscillatory activity during expectancy periods has not been directly addressed. The present report tests whether the background oscillatory activity is modulated by a warning signal. During the expectancy period, the power spectral density (PSD) between 0 and 42.9 Hz ? including delta, theta, alpha, beta, and gamma ? decreased with respect to the baseline. These results suggest that during expectancy periods there is a generalised decrease in the oscillatory activity, and that reduction of the EEG power would facilitate the phasic and oscillatory neural activities triggered by the next target stimulus.
10
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Individual differences in temporal information processing in humans

80%
Szelag E., Kanabus M., Kolodziejczyk I., Kowalska J., Szuchnik J.
Acta Neurobiologiae Experimentalis
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2004
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vol. 64
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issue 3
349-366
EN
This article reviews some of our investigations concerning individual differences in temporal information processing. Two different levels of temporal information processing are discussed, namely the low-frequency (i.e., a few seconds time range) and the high-frequency processing level (i.e., some tens of milliseconds range) of temporal information with respect to various experimental paradigms. Evidence has been obtained indicating that the processing of temporal information on these two levels can be influenced by various subject-related factors, out of which age, gender, developmental disorders, auditory experience and localisation of damage in the brain seem to be the most significant.
11

The application of human band specific probe (HSA11p15) to identify a corresponding region in the porcine genome

80%
Rejduch B., Slota E., Kozubska-Sobocinska A.
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issue 3
341-342
EN
The aim of this study was to analyse homology in the telomeric region of chromosome 11 in humans and a corresponding fragment in the porcine genome using the FISH technique. The human band specific probe (HSA 11p15) was used for hybridization with pig chromosomes. The obtained results showed strong signals on human chromosome 11p15, as well as pig chromosome 2p17. Some aspects of the similarity between the human and pig chromosome segments have been discussed.
12

Variability of the human mitochondrial DNA control region sequences in the Lithuanian population

80%
Kasperaviciute D., Kucinskas V.
Journal of Applied Genetics
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2002
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vol. 43
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issue 2
255-260
EN
The Lithuanians and Latvians are the only two Baltic cultures that survived until today. Since the Neolithic period the native inhabitants of the present-day Lithuanian territory have not been replaced by any other ethnic group. Therefore the genetic characterization of the present-day Lithuanians may shed some light on the early history of the Balts. We have analysed 120 DNA samples from two Lithuanian ethnolinguistic groups (Aukstaiciai and Zemaiciai) by direct sequencing of the first hypervariable segment (HVI) of the control region of mitochondrial DNA (mtDNA) and restriction enzyme digestion for polymorphic site 00073. On the basis of specific nucleotide substitutions the obtained sequences were classified to mtDNA haplogroups. This revealed the presence of almost all European haplogroups (except X) in the Lithuanian sample, including those that expanded through Europe in the Palaeolithic and those whose expansion occurred during the Neolithic. Molecular diversity indices (gene diversity 0.97, nucleotide diversity 0.012 and mean number of pairwise differences 4.5) were within the range usually reported in European populations. No significant differences between Aukstaiciai and Zemaiciai subgroups were found, but some slight differences need further investigation.
13

Cytokine-producing T cell subsets in human leishmaniasis

80%
Kemp K.
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vol. 48
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issue 3
173-176
EN
Leishmania specific Th1/Th2 cells have been identified in humans as well as in mice. There is a correlation between the clinical outcome of the infection and the cytokine response profile. Generally, the production of Th2 cytokines leads to severe infection, whereas the production of Th1 cytokines leads to subclinical or mild infections. In mice, an infection leads to a polarisation of either Th1 or Th2 Leishmania antigen specific cells. In contrast, both Th1 and Th2 Leishmania antigen specific cells can be identified in humans cured from L. donovani infections. Theoretically, Th1 cells and Th2 cells mutually down-regulate each other. However, the presence of antigen specific regulatory T cell subsets may provide an environment that allows the presence of both Th1 and Th2 cells.
14

Genetic background of cutaneous forms of lupus erythematosus: update on current evidence

71%
Osmola A., Namysl J., Jagodzinski P. P., Prokop J.
Journal of Applied Genetics
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2004
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vol. 45
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issue 1
77-86
EN
This article reviews and updates current information on the possible genetic basis for cutaneous lupus erythematosus. The aetiology of this condition remains unknown and is believed to be multifactorial, involving genetic, environmental and retroviral factors. A genetic predisposition is probably the greatest risk factor for this condition. Individual susceptibility to lupus erythematosus may be determined by a combination of specific polymorphisms of genes encoding multiple cytokines, adhesion molecules, and cellular proteins. This condition may lead to an abnormal expression of immunoregulatory molecules and finally results in the development or exacerbation of the disease. Recently also the role of endogenous retroviral sequences in the pathogenesis of autoimmunity has been discussed.
15

Expression profile analysis of human peripheral blood mononuclear cells in response to aspirin

71%
Choi S., Park H.-S., Cheon M. S., Lee K.
Archivum Immunologiae et Therapiae Experimentalis
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2005
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vol. 53
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issue 2
151-158
EN
Aspirin is a popular nonsteroidal anti-inflammatory drug, but some patients suffer from hypersensitivity to it. This prompted us to identify the factors or molecules related to these responses. A commercially available DNA microarray was used to study changes in gene expression in human peripheral blood mononuclear cells (PBMCs) after aspirin treatment. The PBMCs were collected from a patient with aspirin-intolerant asthma and one normal healthy control. We identified 61 and 107 genes respectively induced and repressed by aspirin treatment in the PBMCs derived from the normal control. In the patient showing aspirin-induced asthma responses, 31 genes were up-regulated and 6 were down-regulated after aspirin treatment. Among these, 1 gene was expressed with the same pattern in the control and the patient. In contrast, 19 genes showed different expression patterns, and it turned out that most of them were involved in immune responses, cell growth/proliferation, transcription/ translation, and signaling pathways. These results show the molecules involved in hypersensitivity to aspirin and may lead to a better understanding of adverse responses to aspirin. Furthermore, they can provide clues for identifying novel therapeutic and/or preventive molecular targets of the adverse effects of aspirin.
16
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Locomotor recovery after thoracic spinal cord lesions in cats, rats

71%
Majczynski H., Slawinska U.
Acta Neurobiologiae Experimentalis
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2007
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vol. 67
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issue 3
235-257
EN
More than a hundred years of extensive studies have led to the development of clinically valid animal models of spinal cord injury (SCI) used to investigate neurophysiological mechanisms, pathology and potential therapies. The cat and rat models of SCI were found particularly useful due to several behavioral responses that correspond to clinical symptoms seen in patients. This review concentrates on recovery of motor behavior in the rat and cat models of thoracic spinal cord injury. At the beginning an outline of the general concept of neural control of locomotion: the existence of a spinal network producing the locomotor activity and the supraspinal and sensory inputs that influence this network is presented. Next, the severity of functional impairment in relation to the extent and precise location of lesions at the thoracic level in cats and rats is described. Finally, the impact of animal studies on the treatment of SCI patients and the possibility that a spinal network producing the locomotor activity also exists in humans is discussed.
17

Expressive gene structures of proper and modified genes

71%
Lipinski D., Szalata M., Kalak R., Plawski A., Nuc K., Kala M., Juzwa W., Slomska K., Gronek P., Jura J., Smorag Z., Pienkowski M., Slomski R.
Biotechnologia
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2003
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issue 1
48-73
EN
The genetic construct WAP 6xHisHGH containing the gene encoding human growth hormone (hGH) and WAP promoter expressed in mammary gland of animals was prepared. The 5? end of the gene was modified by the addition of sequence encoding six histidine residues and the sequence recognized by thrombin. In this way, the growth hormone can be easily purified by affinity chromatography and cleaved with thrombin to an active form. In the next step, the genetic construct was introduced by microinjection into male pronuclei of fertilized oocytes. Transgene was detected in male rabbit of F0 generation (number 61). Twelve offspring of founder rabbit of generation F1 indicated transgene sequences. The presence of growth hormone was revealed in the samples of milk accumulated during the lactation of females of F1 generation. The genetic constructs containing chain 1 and chain 2 of Feld1, and the major allergen produced by cat (Fedlis domesticus) were prepared. Both genes were inactivated by introduction into the sequences a positive selectable marker aminoglycoside phosphotransferase (resistant to neomycin). Outside the region of homology to Feld1 chain 1 and chain 2 genes, the negative selectable marker ? thymidine kinase gene was introduced. The genetic constructs pNTKFd1 and pNTKFd2 can be used in further experiments involving the inactivation of Feld1 genes in cat cells. Both genes were modified by site-directed mutagenesis using megastarter with Stop codon for premature termination of translation. The presence of mutation was confirmed by sequencing. The genetic constructs with human hGH gene and cat Feld1 gene were introduced into the bovine and cat fetal fibroblasts respectively in co-transfection with plasmid pGT-N29 containing positive selectable marker by lipofection, precipitation and electroinjection methods. After the selection, surviving cells were subjected to further molecular analysis. The stabile incorporation of the genetic constructs WAP 6xHisHGH and WAPHGH into the genome were observed.
18

Genotoxicity of the volatile anaesthetic desflurane in human lymphocytes in vitro, established by comet assay

71%
Karpinski T. M., Kostrzewska-Poczekaj M., Stachecki I., Mikstacki A., Szyfter K.
Journal of Applied Genetics
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2005
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vol. 46
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issue 3
319-324
EN
The aim of the present study was to estimate the genotoxicity of desflurane, applied as a volatile anaesthetic. The potential genotoxicity was determined by the comet assay as the extent of DNA fragmentation in human peripheral blood lymphocytes in vitro. The comet assay detects DNA strand breaks induced directly by genotoxic agents as well as DNA fragmentation due to cell death. Another anaesthetic, halothane, already proved to be a genotoxic agent, was used as a positive control. Both analysed drugs were capable of increasing DNA migration in a dose-dependent manner under experimental conditions applied. The results of the study demonstrated that the genotoxicity of desflurane was comparable with that of halothane. However, considering the pharmacodynamics of both drugs, the genotoxic activity of desflurane may be connected with a less harmful effect on the exposed patients or medical staff.
19

Myosin heavy chain protein and gene expression in the masseter muscle of adult patients with distal or mesial malocclusion

71%
Gedrange T., Buttner C., Schneider M., Oppitz R., Harzer W.
Journal of Applied Genetics
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2005
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vol. 46
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issue 2
227-236
EN
The aim of this study was to determine the amount of myosin heavy chain (MyHC) proteins and MyHC mRNA in muscles of patients with different positions of the mandible. Ten adult patients for orthognathic surgery were divided into two groups: distal and mesial malocclusion. The mRNA expression of two MyHC isoforms of the anterior and posterior part of the right and left side of the human masseter muscle was analysed with a competitive RT-PCR assay. An exogenous template that includes oligonucleotide sequences specific for sarcomeric MyHC isoforms (1 and 2x) was constructed and utilized as competitor. Different isoforms of the MyHC protein were identified by Western blot analysis. In the total mRNA pool of the masseter muscle, the MyHC 1 mRNA level was 25.5 ? 7.6% and the MyHC 2x mRNA was 2.5 ? 1.2%. The anterior part of the masseter muscle from patients with distal occlusion contained more type 1 and 2x MyHC mRNA, as compared to patients with mesial occlusion (P < 0.05). No difference in the protein distribution was observed. The differences in mRNA expression may be caused by the enforced stress of the masticatory muscle in distal occlusion because of the disadvantageous pivot.
20

Production of the human hemoglobin from animals modified by genetic engineering

71%
Grzybowski G.
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|
issue 1
83-94
EN
Medical and economic arguments for the investigation of methods of producing blood substitutes are presented. The paper presents the current state of investigations aimed at the production of human hemoglobin from animals modified by genetic engineering methods. Certain problems related to medicine and public perception are presented in connection with the use of 'transgenic' hemoglobin as blood substitute. Swine is at present the only species among farm animals which is used in research on the production of human hemoglobin. Animals were obtained in which 'transgenic' hemoglobin accounted for 54% of the total hemoglobin in the organism. When human hemoglobin accounted for 24% of the total, and 30% was hybrid (human/swine), the animals were in perfect health, fit for reproduction and their progeny demonstrated the same transgene expression. It is assumed that human hemoglobin, extracted from the blood of transgenic swine, will be the first commercial product used in medicine and obtained through transgenesis of domestic animals.
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