• MeSH
• buňky NK MeSH
• geny MHC třídy I MeSH
• HLA antigeny MeSH
• hlavní histokompatibilní komplex účinky léků   MeSH
• syndrom MeSH
• Publikační typ
• přehledy MeSH

The major histocompatibility complex (MHC) plays a central role in the adaptive immune response and is the most polymorphic gene family in vertebrates. Although high-throughput sequencing has increasingly been used for genotyping families of co-amplifying MHC genes, its potential to facilitate early steps in the characterisation of MHC variation in nonmodel organism has not been fully explored. In this study we evaluated the usefulness of de novo transcriptome assembly in characterisation of MHC sequence diversity. We found that although de novo transcriptome assembly of MHC I genes does not reconstruct sequences of individual alleles, it does allow the identification of conserved regions for PCR primer design. Using the newly designed primers, we characterised MHC I sequences in the bank vole. Phylogenetic analysis of the partial MHC I coding sequence (2-4 exons) of the bank vole revealed a lack of orthology to MHC I of other Cricetidae, consistent with the high gene turnover of this region. The diversity of expressed alleles was characterised using ultra-deep sequencing of the third exon that codes for the peptide-binding region of the MHC molecule. High allelic diversity was demonstrated, with 72 alleles found in 29 individuals. Interindividual variation in the number of expressed loci was found, with the number of alleles per individual ranging from 5 to 14. Strong signatures of positive selection were found for 8 amino acid sites, most of which are inferred to bind antigens in human MHC, indicating conservation of structure despite rapid sequence evolution.

• MeSH
• alely MeSH
• Arvicolinae genetika   MeSH
• DNA primery MeSH
• exony MeSH
• fylogeneze MeSH
• genetická variace MeSH
• genotyp MeSH
• geny MHC třídy I * MeSH
• hlavní histokompatibilní komplex genetika   MeSH
• multigenová rodina MeSH
• myši MeSH
• transkriptom * MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Schizorhodopsins (SzRs), a rhodopsin family first identified in Asgard archaea, the archaeal group closest to eukaryotes, are present at a phylogenetically intermediate position between typical microbial rhodopsins and heliorhodopsins. However, the biological function and molecular properties of SzRs have not been reported. Here, SzRs from Asgardarchaeota and from a yet unknown microorganism are expressed in Escherichia coli and mammalian cells, and ion transport assays and patch clamp analyses are used to demonstrate SzR as a novel type of light-driven inward H+ pump. The mutation of a cytoplasmic glutamate inhibited inward H+ transport, suggesting that it functions as a cytoplasmic H+ acceptor. The function, trimeric structure, and H+ transport mechanism of SzR are similar to that of xenorhodopsin (XeR), a light-driven inward H+ pumping microbial rhodopsins, implying that they evolved convergently. The inward H+ pump function of SzR provides new insight into the photobiological life cycle of the Asgardarchaeota.

• MeSH
• Archaea genetika   metabolismus   MeSH
• buněčná membrána metabolismus   MeSH
• fluorescenční protilátková technika MeSH
• gating iontového kanálu účinky záření   MeSH
• konformace proteinů MeSH
• molekulární modely MeSH
• multigenová rodina MeSH
• mutace MeSH
• protonové pumpy chemie   genetika   metabolismus   MeSH
• rodopsin chemie   genetika   metabolismus   MeSH
• spektroskopie infračervená s Fourierovou transformací MeSH
• světlo MeSH
• vztahy mezi strukturou a aktivitou MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Talasémie tvoří heterogenní skupinu vrozených poruch červené krevní řady. Příčinou je nerovnováha globinových řetězců v molekule hemoglobinu, která vede k neefektivní erytropoéze v kostní dřeni a ke zkrácení životního cyklu erytrocytů. Klinická a laboratorní manifestace je značně rozdílná a závisí na počtu postižených globinových genů. Jedinci s nosičstvím talasemické alely jsou asymptomatičtí a nacházíme u nich jen mikrocytózu erytrocytů a u některých snížení hladiny hemoglobinu. Těžší formy talasémií jsou provázeny závažnou mikrocytární anémií s vystupňovanou hemolýzou a s tím souvisejícími komplikacemi. Diagnostika talasémií spočívá v analýze hemoglobinového spektra a v detekci kauzální mutace molekulárně genetickými metodami. Léčba nositelů talasemické alely většinou není nutná, u těžších forem talasémie spočívá v pravidelné substituci erytrocytárními koncentráty a léčbě přidružených komplikací. Kauzální terapií je transplantace kmenových buněk krvetvorby a genová terapie. U vybraných párů je dostupná prenatální diagnostika.

Thalassemias represent heterogenic group of inhereted red blood cells disorders. It is caused by imbalance of globin chains in hemoglobin molecule, which leads to ineffective erythropoiesis in a bone marrow and shortening of erythrocyte´s life span. Clinical and laboratory presentation is heterogenic and depends on number of affected genes. Thalassemia carriers are asymptomatic with microcytic erythrocytes and hemoglobin level can be decreased in some cases. Severe forms of thalassemia are associated with severe microcytic hypochromic anemia, an increased hemolysis and with a related complications. Diagnosis of thalassemia consists of analysis of hemoglobin spectrum and detection of the causal mutations by molecular genetic methods.. Carriers of thlassemia allele require no therapy, patients with severe form need a regular transfusion regime. As a curative procedures, hematopoetic stem cell transplantation and gene therapy can be used. Prenatal testing is also available.

• MeSH
• alfa-talasemie * diagnóza   epidemiologie   genetika   MeSH
• beta-talasemie * diagnóza   epidemiologie   genetika   MeSH
• diagnostické techniky molekulární MeSH
• krevní nemoci MeSH
• lidé MeSH
• syndrom MeSH
• Check Tag
• lidé MeSH

Endoglin (CD 105, TGF-β receptor III) is a homodimeric transmembrane glycoprotein that plays a regulatory role in TGF-β signaling. Its functional role in the context of atherosclerosis has yet to be defined and should be stated here. Therefore, we focused on the role of endoglin in atherosclerosis in both humans and experimental animals. Endoglin expression was demonstrated in atherosclerotic vessels predominantly in endothelial cells and smooth muscle cells in various types of blood vessels in mice and humans, suggesting its participation in atherogenesis. Endoglin expression was also related to the expression of eNOS in endothelium, repair of the vessel wall, plaque neoangiogenesis, production of collagen and stabilization of atherosclerotic lesions. In addition, increased levels of soluble endoglin were associated with hypercholesterolemia, atherosclerosis, acute myocardial infarction and were related to inhibition of TGF-β signaling in the vessel wall. Moreover, soluble endoglin levels were significantly lowered after a series of extracorporeal eliminations in patients with familial hypercholesterolemia. Additionally, statin treatment decreased levels of soluble endoglin and increased its expression in aorta, which was related to reduced atherosclerosis in mice. In conclusion, we propose that measurement of soluble endoglin might give information about progression of the atherosclerotic process or the efficacy of therapeutic interventions, which is the task that must be answered in clinical trials.

• MeSH
• aterosklerotický plát etiologie   MeSH
• ateroskleróza patofyziologie   MeSH
• CD antigeny biosyntéza   krev   fyziologie   MeSH
• cévní endotel MeSH
• hypercholesterolemie patofyziologie   MeSH
• kyseliny heptylové terapeutické užití   MeSH
• lidé MeSH
• myši MeSH
• prasata MeSH
• proteoglykany fyziologie   MeSH
• pyrroly terapeutické užití   MeSH
• receptory buněčného povrchu biosyntéza   krev   fyziologie   MeSH
• receptory transformujícího růstového faktoru beta fyziologie   MeSH
• synthasa oxidu dusnatého, typ III biosyntéza   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

Hematopoietic stem cells (HSCs), still represent a certain mystery in biology, have a unique property of dividing into equal cells and repopulating the hematopoietic tissue. This potential enables their use in transplantation treatments. The quality of the HSC grafts for transplantation is evaluated by flow cytometric determination of the CD34(+) cells, which enables optimal timing of the first apheresis and the acquisition of maximal yield of the peripheral blood stem cells (PBSCs). To identify a more efficient method for evaluating CD34(+) cells, we compared the following alternative methods with the reference method: hematopoietic progenitor cells (HPC) enumeration (using the Sysmex XE-2100 analyser), detection of CD133(+) cells, and quantification of aldehyde dehydrogenase activity in the PBSCs. 266 aphereses (84 patients) were evaluated. In the preapheretic blood, the new methods produced data that were in agreement with the reference method. The ROC curves have shown that for the first-day apheresis target, the optimal predictive cut-off value was 0.032 cells/mL for the HPC method (sensitivity 73.4%, specificity 69.3%). HPC method exhibited a definite practical superiority as compared to other methods tested. HPC enumeration could serve as a supplementary method for the optimal timing of the first apheresis; it is simple, rapid, and cheap.

• MeSH
• aldehyddehydrogenasa metabolismus   MeSH
• antigeny CD34 metabolismus   MeSH
• časové faktory MeSH
• CD antigeny metabolismus   MeSH
• dospělí MeSH
• glykoproteiny metabolismus   MeSH
• hematopoetické kmenové buňky cytologie   metabolismus   MeSH
• leukaferéza MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• neparametrická statistika MeSH
• peptidy metabolismus   MeSH
• průtoková cytometrie metody   MeSH
• reprodukovatelnost výsledků MeSH
• ROC křivka MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH

We believe this study is the first attempt to address molecular prospecting for species diversity of Diplostomum (Digenea: Diplostomidae) in Europe. A database linking sequences from the barcode region of the cytochrome c oxidase subunit 1 (cox1) mitochondrial gene and from the internal transcribed spacer cluster (ITS1-5.8S-ITS2) of the rRNA gene was generated for larval and adult parasites of snails, fish and gulls from central Europe. Analyses of the novel cox1 dataset revealed the presence of six genetically distinct Diplostomum lineages in the snail and fish populations studied in the River Ruhr drainage (Germany). ITS1-5.8S-ITS2 sequences from a representative subset of isolates supported the delineation detected by cox1. Molecular elucidation of the life-cycles of Diplostomum spathaceum and Diplostomum pseudospathaceum in central Europe was achieved by matching multiple sequences for isolates from natural infections in snails, fish and birds identified on the basis of the morphology of all life-cycle stages. Comparative analyses restricted to the ITS1 rDNA region and incorporating sequences for six European and seven North American Diplostomum spp. retrieved from GenBank, corroborated the results of the molecular prospecting based on the cox1 dataset. Taken together, these analyses depicted 20 molecularly characterised species and lineages of Diplostomum including three complexes of genetically distinct lineages i.e. 'Diplostomum mergi', 'Diplostomum baeri' and 'Diplostomum huronense', that require further appraisal with the application of molecular, morphological and experimental approaches. Two of the species and 10 of the lineages (arguably species) delineated in the datasets studied originate from central and northern Europe thus indicating a substantial unrecognized genetic diversity inferred from molecular evidence on Diplostomum spp. in Europe.

• MeSH
• cyklooxygenasa 1 genetika   MeSH
• fylogeneze MeSH
• genetická variace * MeSH
• mezerníky ribozomální DNA genetika   MeSH
• molekulární sekvence - údaje MeSH
• sekvenční analýza DNA MeSH
• shluková analýza MeSH
• stadia vývoje MeSH
• Trematoda klasifikace   genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH
• Severní Amerika MeSH

• MeSH
• Cytomegalovirus patogenita   MeSH
• dítě MeSH
• imunoglobulin G krev   MeSH
• imunoglobulin M krev   MeSH
• infekční mononukleóza diagnóza   etiologie   farmakoterapie   MeSH
• lidé MeSH
• protilátky heterofilní krev   MeSH
• syndrom diagnóza   etiologie   MeSH
• virus Epsteinův-Barrové patogenita   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH

OBJECTIVE: To study the influence of chronic malnutrition in patients with anorexia nervosa on endocrine function of adipose tissue on both circulating and subcutaneous fat mRNA expression level. PATIENTS AND DESIGN: A total of 12 patients with anorexia nervosa and 18 normal weight age-matched women underwent anthropometric examination, single blood drawing and subcutaneous adipose tissue biopsy. MEASUREMENTS: Serum concentrations of high-sensitive CRP (hsCRP), leptin, soluble leptin receptor, adiponectin, resistin, interleukin-6 and insulin were measured by Luminex, enzyme-linked immunosorbent assay (ELISA) and radioimmunoassay (RIA) kits. Subcutaneous adipose tissue mRNA expression of the same adipokines, adiponectin receptors 1 and 2 and immunocompetent cells marker CD68 was measured by real-time polymerase chain reaction (PCR). RESULTS: Decreased body fat content of patients with anorexia nervosa was accompanied by reduced hsCRP, leptin and increased adiponectin and soluble leptin receptor. Resistin, interleukin-6 and insulin levels did not differ from those of the control group. Fat mRNA adiponectin, leptin, interleukin-6 and CD68 expression was reduced, resistin mRNA expression was increased and adiponectin receptor 1 and 2 expression were unchanged as compared to the control group. CONCLUSIONS: Local perturbations in resistin, adiponectin and interleukin-6 mRNA expression in subcutaneous adipose tissue are not reflected by its circulating levels. These changes could be involved in some local metabolic disturbances in subcutaneous adipose tissue of anorexia nervosa patients.

• MeSH
• adiponektin genetika   krev   MeSH
• antigeny diferenciační myelomonocytární genetika   MeSH
• C-reaktivní protein analýza   MeSH
• CD antigeny genetika   MeSH
• dospělí MeSH
• exprese genu MeSH
• financování organizované MeSH
• fyziologická adaptace MeSH
• interleukin-6 genetika   MeSH
• inzulin krev   MeSH
• krevní glukóza analýza   MeSH
• leptinové receptory krev   MeSH
• lidé MeSH
• mentální anorexie imunologie   metabolismus   MeSH
• messenger RNA analýza   MeSH
• neparametrická statistika MeSH
• parakrinní signalizace MeSH
• podkožní tuk chemie   imunologie   metabolismus   MeSH
• podvýživa imunologie   metabolismus   MeSH
• resistin genetika   krev   MeSH
• studie případů a kontrol MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• srovnávací studie MeSH

INTRODUCTION: and Objectives: The clinical presentation of Obstructive Sleep Apnoea (OSA) differs between genders. This study aimed to identify the specific OSA phenotypes of women in the European Sleep Apnoea Database (ESADA) cohort. MATERIALS AND METHODS: Latent class cluster analysis was applied to data from 9710 female OSA patients. Variables used included age, Body Mass Index (BMI), Epworth Sleepiness Scale (ESS), comorbidities (cardiovascular, pulmonary, psychiatric, metabolic, other) and the Apnoea Hypopnea Index (AHI). RESULTS: Four different clusters were found: Cluster 1"Women with ischemic heart disease" (38.3 %):middle aged (59 years [53-65]),overweight to obese (BMI 30.1 kg/m2 [26.9-33.5]), AHI 22.9 events/h[17.4-30], ESS 9 [5,12] with the highest prevalence of ischemic heart disease (56 %). Cluster 2"Elderly women with comorbidities" (23 %): oldest (66 years[60-71]), obese (BMI 36 kg/m2 [31.6-40.4]),AHI 46 events/h [30-60.1]),ESS 9 [6-13] with the highest prevalence of comorbidities. Cluster 3"Sleepy obese women" (16.2 %): the youngest (49 years [42-55]), sleepiest (ESS 12 [8-16]), most obese(BMI 43 kg/m2[37.6-48.9]) females with severe OSA (AHI 53.3 events/h [32-80.5]). Cluster 4 "Women with mild OSA and low comorbidities" (22.5 %): middle aged (53.5 years [46-60]) with BMI 29 kg/m2[25-34.1],ESS9 [5,13]),AHI 8.6events/h[6.9-10.4])and low prevalence of comorbidities. The distribution of the clusters differed across Europe. PAP administration was higher in Clusters 2 and 3 but low in Cluster 4. CONCLUSION: Four distinct female phenotypes were identified with different clinical presentation and comorbidities. Sex-based phenotyping may provide improved risk stratification and personalized treatment.

• MeSH
• fenotyp * MeSH
• index tělesné hmotnosti * MeSH
• kohortové studie MeSH
• komorbidita * MeSH
• lidé středního věku MeSH
• lidé MeSH
• obezita epidemiologie   MeSH
• obstrukční spánková apnoe * epidemiologie   MeSH
• prevalence MeSH
• senioři MeSH
• shluková analýza MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH