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排序方式: 共有239条查询结果,搜索用时 0 毫秒
1.
Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19 总被引:5,自引:0,他引:5
Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic linkage data support a location of the CCD gene on proximal 19q13.1 and thus suggest that CCD and MHS may be allelic. 相似文献
2.
Attila Marton Csongor I. Vgsi Orsolya Vincze Veronika Bkony Pter L. Pap Laura Ptra Janka Pnzes Lrinc Brbos Attila Fülp Gergely Osvth Simon Ducatez Mathieu Giraudeau 《Ecology and evolution》2022,12(8)
The mechanistic link between avian oxidative physiology and plumage coloration has attracted considerable attention in past decades. Hence, multiple proximal hypotheses were proposed to explain how oxidative state might covary with the production of melanin and carotenoid pigments. Some hypotheses underscore that these pigments (or their precursors, e.g., glutathione) have antioxidant capacities or function as molecules storing the toxic excess of intracellular compounds, while others highlight that these pigments can act as pro‐oxidants under specific conditions. Most studies addressing these associations are at the intraspecific level, while phylogenetic comparative studies are still scarce, though needed to assess the generality of these associations. Here, we tested whether plumage and bare part coloration were related to oxidative physiology at an interspecific level by measuring five oxidative physiology markers (three nonenzymatic antioxidants and two markers of lipid peroxidative damage) in 1387 individuals of 104 European bird species sampled during the breeding season, and by scoring plumage eumelanin, pheomelanin, and carotenoid content for each sex and species. Only the plasma level of reactive oxygen metabolites was related to melanin coloration, being positively associated with eumelanin score and negatively with pheomelanin score. Thus, our results do not support the role of antioxidant glutathione in driving variation in melanin synthesis across species. Furthermore, the carotenoid scores of feathers and bare parts were unrelated to the measured oxidative physiology parameters, further suggesting that the marked differences in pigmentation across birds does not influence their oxidative state. 相似文献
3.
In vivo phage display is a high-throughput method for identifying target ligands specific for different vascular beds. Targeting is possible due to the heterogeneous expression of receptors and other antigens in a particular vascular bed. Such expression is additionally influenced by the physiological or pathological status of the vasculature. In vivo phage display represents a technique that is usable in both, vascular mapping and targeted drug development. In this review, several important methodological aspects of in vivo phage display experiments are discussed. These include choosing an appropriate phage library, an appropriate animal model and the route of phage library administration. In addition, peptides or antibodies identified by in vivo phage display homing to specific types of vascular beds, including the altered vasculature present in several types of diseases are summarized. Still, confirmation in independent experiments and reproduction of identified sequences are needed for enhancing the clinical applicability of in vivo phage display research. 相似文献
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Janka A Becker G Sonntag AK Bielaszewska M Dobrindt U Karch H 《Applied and environmental microbiology》2005,71(8):4875-4878
A mosaic genomic island comprising Shigella resistance locus (SRL) sequences flanked by segments of Escherichia coli O157:H7 strain EDL933 O islands 43, 81, and 82 was identified in sorbitol-fermenting (SF) enterohemorrhagic Escherichia coli (EHEC) O157:H(-) strain 493/89. This mosaic island is absent from strain EDL933. PCR targeting the SRL-related sequence is a useful tool to distinguish SF EHEC O157:H(-) from EHEC O157:H7. 相似文献
6.
Synapses in explant cultures of fetal rat neocortex at day 18 in vitro were stimulated by veratridine (10?4M) for 20 min. The cultures were subsequently processed for electron microscopy and the synapses were analyzed by quantitative techniques, incorporating set mathematical treatment. The mean values of area, perimeter, and form factor of the presynaptic elements significantly increased following veratridine stimulation, compared to the values of control synapses. The length of the postsynaptic thickening also increased, while synaptic curvature did not change significantly in the veratridine group. A fivefold reduction was observed in the mean number of synaptic vesicles per presynaptic element and in the vesicle-terminal area ratio, following veratridine stimulation. The cytoplasm-terminal area ratio and the occurrence of vacuoles/cisternae significantly increased after veratridine application. Planar measurement of membranes (boundary length) of different presynaptic organelles revealed that the total membrane did not change significantly in the veratridine group. The data indicated an increase in volume and swelling of the pre- and postsynaptic elements, considerable depletion of synaptic vesicles, and preservation of the total presynaptic membrane following veratridine stimulation in nerve tissue culture. 相似文献
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Heidrun Janka Maria von Balthazar William S. Alverson David A. Baum João Semir Clemens Bayer 《Plant Systematics and Evolution》2008,275(1-2):69-91
Androecium development and vasculature were studied in nine species of the Adansonieae clade (core Bombacoideae, Malvaceae s.l.). In early androecium development either distinct pentagonal androecial ring walls or five common petal/androecium primordia are present. Ring walls give rise to five antepetalous and five alternipetalous primary androecial primordia. Common primordia divide into peripheral petal primordia and antepetalous primary androecial primordia. Antepetalous primary androecial primordia split anticlinally into ten primordia-halves, on which secondary androecial primordia are initiated in a centrifugal succession. Androecial lobes are formed by fusion of an alternipetalous primary androecial primordium and its two neighbouring antepetalous primary primordia-halves, a pattern that also occurs in other Malvatheca. Later, tertiary androecial primordia are formed by the subdivision of secondary androecial primordia (except in Adansonia and Ceiba). Each tertiary primordium differentiates into a two-locular androecial unit. At anthesis these two-locular androecial units are often present in pairs, corresponding to the two halves of the same secondary androecial primordium. Androecium development and vasculature imply that the alternipetalous androecial sectors have been reduced in Bombacoideae, a tendency that is shared with other subfamilies of Malvaceae. 相似文献
9.
Dancsházy Z Dér A Groma GI Janka Z Járdánházy T Makai A Szentistványi I Vasadi A 《Chronobiology international》2004,21(2):309-314
The aim of the study was to determine any alteration of the 24 h motor activity pattern of a bipolar patient in different mood states. Actigraphic records were collected on an outpatient basis for a total of 387 days. The daily actograms were synchronized in phase to the time of morning awakening before averaging, which significantly enhanced the structure of the averaged traces. The actograms were divided into three groups based on total daily count. The daily motor activity patterns of the low- and high-activity days have a different circadian pattern. We propose it may have a relevance to the different mood states. The phase-synchronization of the 24 h actograms to the patient's sleep-wake cycle, specifically to the time of awaking from the nighttime sleep, may help reveal differences in the daily temporal patterns of motor activity. 相似文献
10.
Matthias Hammon Susan Grossmann Peter Linz Christoph Kopp Anke Dahlmann Christoph Garlichs Rolf Janka Alexander Cavallaro Friedrich C. Luft Michael Uder Jens Titze 《PloS one》2015,10(10)