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排序方式: 共有141条查询结果,搜索用时 31 毫秒
81.
82.
R Hersmus H Stoop GJ van de Geijn R Eini K Biermann JW Oosterhuis C Dhooge DT Schneider IC Meijssen WN Dinjens HJ Dubbink SL Drop LH Looijenga 《PloS one》2012,7(8):e43952
Activating c-KIT mutations (exons 11 and 17) are found in 10-40% of testicular seminomas, the majority being missense point mutations (codon 816). Malignant ovarian dysgerminomas represent ~3% of all ovarian cancers in Western countries, resembling testicular seminomas, regarding chromosomal aberrations and c-KIT mutations. DSD patients with specific Y-sequences have an increased risk for Type II Germ Cell Tumor/Cancer, with gonadoblastoma as precursor progressing to dysgerminoma. Here we present analysis of c-KIT exon 8, 9, 11, 13 and 17, and PDGFRA exon 12, 14 and 18 by conventional sequencing together with mutational analysis of c-KIT codon 816 by a sensitive and specific LightCycler melting curve analysis, confirmed by sequencing. The results are combined with data on TSPY and OCT3/4 expression in a series of 16 DSD patients presenting with gonadoblastoma and dysgerminoma and 15 patients presenting pure ovarian dysgerminomas without DSD. c-KIT codon 816 mutations were detected in five out of the total of 31 cases (all found in pure ovarian dysgerminomas). A synonymous SNP (rs 5578615) was detected in two patients, one DSD patient (with bilateral disease) and one patient with dysgerminoma. Next to these, three codon N822K mutations were detected in the group of 15 pure ovarian dysgerminomas. In total activating c-KIT mutations were found in 53% of ovarian dysgerminomas without DSD. In the group of 16 DSD cases a N505I and D820E mutation was found in a single tumor of a patient with gonadoblastoma and dysgerminoma. No PDGFRA mutations were found. Positive OCT3/4 staining was present in all gonadoblastomas and dysgerminomas investigated, TSPY expression was only seen in the gonadoblastoma/dysgerminoma lesions of the 16 DSD patients. This data supports the existence of two distinct but parallel pathways in the development of dysgerminoma, in which mutational status of c-KIT might parallel the presence of TSPY. 相似文献
83.
MT Butcher JW Hermanson NG Ducharme LM Mitchell LV Soderholm JE Bertram 《Comparative biochemistry and physiology. Part A, Molecular & integrative physiology》2009,152(1):100-114
The forelimb digital flexors of the horse display remarkable diversity in muscle architecture despite each muscle-tendon unit having a similar mechanical advantage across the fetlock joint. We focus on two distinct muscles of the digital flexor system: short compartment deep digital flexor (DDF(sc)) and the superficial digital flexor (SDF). The objectives were to investigate force-length behavior and work performance of these two muscles in vivo during locomotion, and to determine how muscle architecture contributes to in vivo function in this system. We directly recorded muscle force (via tendon strain gauges) and muscle fascicle length (via sonomicrometry crystals) as horses walked (1.7 m s(-1)), trotted (4.1 m s(-1)) and cantered (7.0 m s(-1)) on a motorized treadmill. Over the range of gaits and speeds, DDF(sc) fascicles shortened while producing relatively low force, generating modest positive net work. In contrast, SDF fascicles initially shortened, then lengthened while producing high force, resulting in substantial negative net work. These findings suggest the long fibered, unipennate DDF(sc) supplements mechanical work during running, whereas the short fibered, multipennate SDF is specialized for economical high force and enhanced elastic energy storage. Apparent in vivo functions match well with the distinct architectural features of each muscle. 相似文献
84.
Osmotic Adjustment in Cotton (Gossypium hirsutum L.) Leaves and Roots in Response to Water Stress 下载免费PDF全文
The relative magnitude of adjustment in osmotic potential (ψs) of water-stressed cotton (Gossypium hirsutum L.) leaves and roots was studied using plants raised in pots of sand and grown in a growth chamber. One and three water-stress preconditioning cycles were imposed by withholding water, and the subsequent adjustment in solute potential upon relief of the stress and complete rehydration was monitored with thermocouple psychrometers. Both leaves and roots exhibited a substantial adjustment in ψs in response to water stress with the former exhibiting the larger absolute adjustment. The osmotic adjustment of leaves was 0.41 megapascal compared to 0.19 megapascal in the roots. The roots, however, exhibited much larger percentage osmotic adjustments of 46 and 63% in the one and three stress cycles, respectively, compared to 22 and 40% in the leaves in similar stress cycles. The osmotically adjusted condition of leaves and roots decreased after relief of the single cycle stress to about half the initial value within 3 days, and to the well-watered control level within 6 days. In contrast, increasing the number of water-stress preconditioning cycles resulted in significant percentage osmotic adjustment still being present after 6 days in roots but not in the leaves. The decrease in ψs of leaves persisted longer in field-grown cotton plants compared to plants of the same age grown in the growth chamber. The advantage of decreased ψs in leaves and roots of water-stressed cotton plants was associated with the maintenance of turgor during periods of decreasing water potentials. 相似文献
85.
The effect ofAcremonium coenophialum on the growth and nematode infestation of tall fescue 总被引:1,自引:0,他引:1
The presence of the endophytic fungusAcremonium coenophialum Morgan-Jones et Gams in tall fescue (Festuca arundinacea Schreb.) induces toxicity when this grass is grazed by cattle; however, there is evidence that removing the endophyte reduces the stand vigor and longevity of fescue. A field trial was conducted to determine the effects of water supply and the presence of the endophytic fungus on plant growth, drought tolerance, and soil nematode populations in Kentucky 31 tall fescue. The design included two factors, level of endophyte infection (0 and 75%) and irrigation regime (none, low, and high). Where water deficits occurred, herbage yield and leaf area were lower, and percentage dead tissue and canopy minus air temperature were greater in endophyte-free compared with endophyte-infected fescue. Soil populations ofPratylenchus scribneri andTylenchorhynchus acutus were substantially higher in the noninfected than in the endophyte-infected plots. The endophyte apparently confers drought tolerance to Kentucky 31 tall fescue, and this effect may be at least partially mediated through enhanced resistance to soil-borne nematodes.Published with the approval of the Director of the Ark. Agric. Exp. Stn. 相似文献
86.
This report describes a lysozyme expressed at high levels in the stomach of
the hoatzin, the only known foregut-fermenting bird. Evolutionary
comparison places it among the calcium-binding lysozymes rather than among
the conventional types. Conventional lysozymes were recruited as digestive
enzymes twice in the evolution of mammalian foregut fermenters, and these
independently recruited lysozymes share convergent structural changes
attributed to selective pressures in the stomach. Biochemical convergence
and parallel amino acid replacements are observed in the hoatzin stomach
lysozyme even though it has a different genetic origin from the mammalian
examples and has undergone more than 300 million years of independent
evolution.
相似文献
87.
Localization and polymorphism of a chromosome 12-specific alpha satellite DNA sequence 总被引:7,自引:0,他引:7
L H Looijenga V T Smit J W Wessels P Mollevanger J W Oosterhuis C J Cornelisse P Devilee 《Cytogenetics and cell genetics》1990,53(4):216-218
The isolation and localization of a chromosome 12-specific alpha satellite DNA sequence, p alpha 12H8, is described. This clone contains a complete copy of the 1.4-kb HindIII higher-order repeat present within the alpha satellite array on chromosome 12. The specificity of p alpha 12H8 was demonstrated by in situ hybridization and Southern blot analysis of a somatic cell hybrid mapping panel, both performed under high-stringency conditions. Polymorphic restriction patterns within the alpha satellite array, revealed by the use of the restriction enzymes BglII and EcoRV, were demonstrated to display Mendelian inheritance. These properties make p alpha 12H8 a valuable genetic marker for the centromeric region of chromosome 12. 相似文献
88.
L. H. J. Looijenga J. W. Oosterhuis V. T. H. B. M. Smit J. W. Wessels P. Mollevanger P. Devilee 《Genomics》1992,13(4):1125-1132
We have investigated the organization and complexity of alpha satellite DNA on chromosomes 10 and 12 by restriction endonuclease mapping, in situ hybridization (ISH), and DNA-sequencing methods. Alpha satellite DNA on both chromosomes displays a basic dimeric organization, revealed as a 6- and an 8-mer higher-order repeat (HOR) unit on chromosome 10 and as an 8-mer HOR on chromosome 12. While these HORs show complete chromosome specificity under high-stringency ISH conditions, they recognize an identical set of chromosomes under lower stringencies. At the nucleotide sequence level, both chromosome 10 HORs are 50% identical to the HOR on chromosome 12 and to all other alpha satellite DNA sequences from the in situ cross-hybridizing chromosomes, with the exception of chromosome 6. An 80% identity between chromosome 6- and chromosome 10-derived alphoid sequences was observed. These data suggest that the alphoid DNA on chromosomes 6 and 10 may represent a distinct subclass of the dimeric subfamily. These sequences are proposed to be present, along with the more typical dimeric alpha satellite sequences, on a number of different human chromosomes. 相似文献
89.
W J Pieters J Koudstaal J J Ploem-Zaayer J Janssens J W Oosterhuis 《Analytical and quantitative cytology and histology / the International Academy of Cytology [and] American Society of Cytology》1992,14(3):227-232
There is a need for additional morphologic criteria to improve the value of histologic classification for the prediction of the biologic behavior of cervical intraepithelial neoplasia (CIN). Representative slides from 72 cone specimens containing CIN were examined to study the correlation between the presence of three group metaphases (TGMs), a morphologically well defined and light microscopically readily recognizable atypical mitotic figure, and the incidence of aneuploid cells with a nuclear DNA content greater than 5C. The numbers of cells greater than 5C (minus the polyploid cells 8C +/- 1C) were counted, using LEYTAS image cytometry on Cytospin preparations from the 72 blocks corresponding to the slides searched for TGMs and used for histologic classification of the lesions in classes CIN 1-3. It appeared that large numbers of aneuploid cells greater than 5C were more closely related to the presence of TGM than to a higher CIN class per se, particularly in women older than 35. Since aneuploid CIN has a higher progression rate than euploid CIN, the presence of TGMs will indicate a biologically unfavorable lesion. Thus, TGM deserves further investigation as an additional morphologic parameter for predicting the biologic behavior of CIN. 相似文献
90.
Exposure of the outside of the isolated frog skin to a Ringer's solution, made hypertonic by the addition of mannitol, causes a rapid and sustained increase in transepithelial permeability through a structural distortion-a focal blistering-of the "tight" junctions of the outermost living cell layer. [(3)H]ouabain, used as an autoradiographic marker for the Na+-pump (Na+-K+-adenosine triphosphatase), is usually unable to penetrate the frog skin from the outside solution, but when added to a hypertonic mannitol- Ringer's solution in the outside bath it readily penetrates the epithelium, presumably through the opened shunt pathway. Radioautographic analysis of [(3)H]ouabain binding sites revealed that most of ouabain enters from the outside solution binds to the sites on the cell membranes of the stratum spinosum, as was the case when it was applied from the inside bath in an earlier study. The outer living cell layer, the first to be exposed to ouabain, does not appear to be the major site for the Na+-pump, and therefore, is not likely to be responsible for most of the active pumping of Na+. This result demonstrates that previous failure to show a high density of Na+-pump sites on the cells of the outermost layer, when [(3)H]ouabain was applied from the inside solution, was not due to the inability of the marker to reach these cells at a sufficient concentration to reveal all pump sites. These results provide further support for a model of Na+-transport across the frog skin which distributes the active pump step on the inward facing membranes of all living cells. 相似文献