排序方式: 共有23条查询结果,搜索用时 0 毫秒
1.
Hana Sebestova Miluse Vozdova Svatava Kubickova Halina Cernohorska Radim Kotrba Jiri Rubes 《Chromosoma》2016,125(1):137-149
2.
Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Rubes J Vozdova M Robbins WA Rezacova O Perreault SD Wyrobek AJ 《American journal of human genetics》2002,70(6):1507-1519
Repeated semen specimens from healthy men were analyzed by sperm fluorescence in situ hybridization (FISH), to identify men who consistently produced elevated frequencies of aneuploid sperm and to determine whether men who were identified as stable variants of sperm aneuploidy also exhibited higher frequencies of aneuploidy in their peripheral blood lymphocytes. Seven semen specimens were provided by each of 15 men over a 2-year period and were evaluated by the X-Y-8 multicolor sperm FISH method (i.e., approximately 1,050,000 sperm were analyzed from 105 specimens). Three men were identified as stable aneuploidy variants producing significantly higher frequencies of XY, disomy X, disomy Y, disomy 8, and/or diploid sperm over time. In addition, one man and three men were identified as sperm-morphology and sperm-motility variants, respectively. Strong correlations were found between the frequencies of sperm with autosomal and sex-chromosome aneuploidies and between the two types of meiosis II diploidy; but not between sperm aneuploidy and semen quality. A significant association was found between the frequencies of sex-chromosome aneuploidies in sperm and lymphocytes in a subset of 10 men (r2=0.67, P=.004), especially between XY sperm and sex-chromosome aneuploidy in lymphocytes (r2=0.70, P=.003). These findings suggest that certain apparently healthy men can produce significantly higher frequencies of both aneuploid sperm and lymphocytes. Serious long-term somatic and reproductive health consequences may include increased risks of aneuploidy-related somatic diseases and of having children with paternally transmitted aneuploidies, such as Klinefelter, Turner, triple-X, and XYY syndromes. 相似文献
3.
Korabecny J Musilek K Zemek F Horova A Holas O Nepovimova E Opletalova V Hroudova J Fisar Z Jung YS Kuca K 《Bioorganic & medicinal chemistry letters》2011,21(21):6563-6566
Cholinesterase inhibitors are, so far, the only successful strategy for the symptomatic treatment of Alzheimer's disease. Tacrine (THA) is a potent acetylcholinesterase inhibitor that was used in the treatment of Alzheimer's disease for a long time. However, the clinical use of THA was hampered by its low therapeutic index, short half-life and liver toxicity. 7-Methoxytacrine (7-MEOTA) is equally pharmacological active compound with lower toxicity compared to THA. In this Letter, the synthesis, biological activity and molecular modelling of elimination by-product isolated during synthesis of 7-MEOTA based bis-alkylene linked compound is described. 相似文献
4.
Kanková K Kalousová M Hertlová M Krusová D Olsovský J Zima T 《Archives of physiology and biochemistry》2008,114(2):111-119
Diabetes mellitus, especially when complicated with decline of renal function due to diabetic nephropathy (DN), is associated with accumulation of advanced glycation end products (AGEs) exerting their adverse effects via receptor of AGE (RAGE). Soluble RAGE (sRAGE) is a truncated form of RAGE functioning as an inhibitor of AGE-mediated signalling. We studied relationships between sRAGE, renal function and genetic variability in the AGER gene in diabetic subjects. Study comprised a total of 265 diabetics (type 1 or 2 or LADA) with normoalbuminuria (n = 94) or DN (n = 171). sRAGE (assessed by ELISA) was significantly higher in DN than normoalbuminuria subjects (P = 0.007) and positively correlated with age, S-urea, S-creatinine and albuminuria and AGEs (determined spectrofluorimetrically), negatively with GFR (all P < 0.05); however, multivariate regression revealed that GFR was the only independent variable associated with sRAGE (P = 0.047). sRAGE did not correspond with carrier state of risk-haplotype copies (RAGE2) (P > 0.05). In conclusion, GFR is a principal determinant of sRAGE concentration and gradual sRAGE increase in subjects with advancing impairment of renal function is paralleled by AGEs. 相似文献
5.
Ingrida Smeringaiova Peter Trosan Miluse Berka Mrstinova Jan Matecha Jan Burkert Jan Bednar Katerina Jirsova 《Cell and tissue banking》2017,18(3):413-423
Human amniotic membrane (HAM) is used as an allograft in regenerative medicine or as a source of pluripotent cells for stem cell research. Various decontamination protocols and solutions are used to sterilize HAM before its application, but little is known about the toxicity of disinfectants on HAM cells. In this study, we tested two decontamination solutions, commercial (BASE·128) and laboratory decontamination solution (LDS), with an analogous content of antimycotic/antibiotics for their cytotoxic effect on HAM epithelial (EC) and mesenchymal stromal cells (MSC). HAM was processed in a standard way, placed on nitrocellulose scaffold, and decontaminated, following three protocols: (1) 6 h, 37 °C; (2) 24 h, room temperature; (3) 24 h, 4 °C. The viability of EC was assessed via trypan blue staining. The apoptotic cells were detected using terminal deoxynucleotidyl transferase dUTP nick end labelling (TUNEL). The mean % (±SD) of dead EC (%DEC) from six fresh placentas was 12.9 ± 18.1. Decontamination increased %DEC compared to culture medium. Decontamination with BASE·128 for 6 h, 37 °C led to the highest EC viability (81.7%). Treatment with LDS at 24 h, 4 °C resulted in the lowest EC viability (55.9%) in the set. MSC were more affected by apoptosis than EC. Although the BASE·128 expresses lower toxicity compared to LDS, we present LDS as an alternative decontamination solution with a satisfactory preservation of cell viability. The basic formula of LDS will be optimised by enrichment with nutrient components, such as glucose or vitamins, to improve cell viability. 相似文献
6.
Aurora?Ruiz-HerreraEmail authorView authors OrcID profile Miluse?Vozdova Jonathan?Fernández Hana?Sebestova Laia?Capilla Jan?Frohlich Covadonga?Vara Adrià?Hernández-Marsal Jaroslav?Sipek Terence?J.?Robinson Jiri?Rubes 《Chromosoma》2017,126(5):615-631
Homologous chromosomes exchange genetic information through recombination during meiosis, a process that increases genetic diversity, and is fundamental to sexual reproduction. In an attempt to shed light on the dynamics of mammalian recombination and its implications for genome organization, we have studied the recombination characteristics of 112 individuals belonging to 28 different species in the family Bovidae. In particular, we analyzed the distribution of RAD51 and MLH1 foci during the meiotic prophase I that serve, respectively, as proxies for double-strand breaks (DSBs) which form in early stages of meiosis and for crossovers. In addition, synaptonemal complex length and meiotic DNA loop size were estimated to explore how genome organization determines DSBs and crossover patterns. We show that although the number of meiotic DSBs per cell and recombination rates observed vary between individuals of the same species, these are correlated with diploid number as well as with synaptonemal complex and DNA loop sizes. Our results illustrate that genome packaging, DSB frequencies, and crossover rates tend to be correlated, while meiotic chromosomal axis length and DNA loop size are inversely correlated in mammals. Moreover, axis length, DSB frequency, and crossover frequencies all covary, suggesting that these correlations are established in the early stages of meiosis. 相似文献
7.
The altitudinal distribution of plants is restricted by various environmental factors, with climatic conditions being one of the primary constraints. Here, we investigate what limits the altitudinal range of the introduced species Erigeron annuus in the Swiss Alps. We planted offspring of E. annuus plants originating from different altitudes into two common gardens, one located at an altitude representing the main area of distribution (400 m) and the other close to the current altitudinal limit of E. annuus in Switzerland (1000 m). In both common gardens all established plants survived and grew vigorously during the growing season. However, there was high winter mortality of seedlings at 1000 m. Furthermore, plant phenology was delayed and reproductive output was reduced at 1000 m, although the seeds produced were larger. The general lack of adaptation to altitude and only moderate levels of plasticity suggest that there is little potential for E. annuus to persist beyond its current altitudinal limit in the Swiss Alps. However, climate warming might promote the upward range expansion of E. annuus by reducing winter mortality and by increasing the chance of producing seeds within the growing season. 相似文献
8.
Zumrová A Krepelová A Kyncl M Maríková T Prosková M Cíbochová R Sebronová V Komárek V 《Neuro endocrinology letters》2005,26(3):213-218
Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome, crystallized the pantothenate kinase-associated neurodegeneration (PKAN) as a clearly defined entity on the level of DNA. In this paper, we present our first results and experience in the diagnosis of PKAN in the Czech Republic and discuss questions related to differential diagnosis. 相似文献
9.
Miluse Trtikova Sabine Güsewell Matthias Baltisberger Peter J. Edwards 《Biological invasions》2011,13(2):413-422
We investigated whether local adaptation has been important in enabling the invasive apomictic species Erigeron annuus to extend its altitudinal range in the Swiss Alps. We first conducted a field survey along several major roads crossing the
Swiss Alps to study the distribution and growth performance of E. annuus along an altitudinal gradient. We then used amplified fragment length polymorphism to assess genetic variation within and
among populations originating from different altitudes. To complement the molecular analyses, we compared the performance
of genotypes with different distributions (i.e. local, occasional, widespread genotypes) in two common gardens at 400 m and
1,000 m a.s.l. Although E. annuus was seldom found above 1,000 m, plant performance in field populations did not decrease with increasing altitude. However,
there was a significant decline in genotypic diversity within populations, and highland (711–1,100 m) populations were more
differentiated (Gst = 0.55) than lowland (200–530 m) populations (Gst = 0.33). In the common garden experiment, local genotypes
(i.e. those restricted to a single population) grew less vigorously than widespread genotypes, and were less likely to reproduce.
We found no evidence for on-going adaptive changes and conclude that any selection acting on particular genotypes at the altitudinal
limit is weak. This leads us to propose that the patterns in the distribution of genotypic diversity in E. annuus are governed by processes of occasional sexual reproduction, dispersal and extinction that are to a large extent independent
of altitude. 相似文献
10.
Identification of bacteria utilizing biphenyl, benzoate, and naphthalene in long-term contaminated soil 总被引:1,自引:0,他引:1
O Uhlik J Wald M Strejcek L Musilova J Ridl M Hroudova C Vlcek E Cardenas M Mackova T Macek 《PloS one》2012,7(7):e40653
Bacteria were identified associated with biodegradation of aromatic pollutants biphenyl, benzoate, and naphthalene in a long-term polychlorinated biphenyl- and polyaromatic hydrocarbon-contaminated soil. In order to avoid biases of culture-based approaches, stable isotope probing was applied in combination with sequence analysis of 16 S rRNA gene pyrotags amplified from (13)C-enriched DNA fractions. Special attention was paid to pyrosequencing data analysis in order to eliminate the errors caused by either generation of amplicons (random errors caused by DNA polymerase, formation of chimeric sequences) or sequencing itself. Therefore, sample DNA was amplified, sequenced, and analyzed along with the DNA of a mock community constructed out of 8 bacterial strains. This warranted that appropriate tools and parameters were chosen for sequence data processing. (13)C-labeled metagenomes isolated after the incubation of soil samples with all three studied aromatics were largely dominated by Proteobacteria, namely sequences clustering with the genera Rhodanobacter Burkholderia, Pandoraea, Dyella as well as some Rudaea- and Skermanella-related ones. Pseudomonads were mostly labeled by (13)C from naphthalene and benzoate. The results of this study show that many biphenyl/benzoate-assimilating bacteria derive carbon also from naphthalene, pointing out broader biodegradation abilities of some soil microbiota. The results also demonstrate that, in addition to traditionally isolated genera of degradative bacteria, yet-to-be cultured bacteria are important players in bioremediation. Overall, the study contributes to our understanding of biodegradation processes in contaminated soil. At the same time our results show the importance of sequencing and analyzing a mock community in order to more correctly process and analyze sequence data. 相似文献