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1.
S. Kleinle U. Wiesmann A. Superti-Furga S. Krähenbühl E. Boltshauser J. Reichen S. Liechti-Gallati 《Human genetics》1997,100(5-6):643-650
We used a strategy based on long PCR (polymerase chain reaction) for detection and characterization of mitochondrial DNA (mtDNA)
rearrangements in two patients with clinical signs suggesting Pearson syndrome and Kearns-Sayre syndrome (KSS), respectively,
and one patient with myopathic symptoms of unidentified origin. Mitochondrial DNA rearrangements were detected by amplification
of the complete mitochondrial genome (16.6 kb) using long PCR with primers located in essential regions of the mitochondrial
genome and quantified by three-primer PCR. Long PCR with deletion-specific primers was used for identification and quantitative
estimation of the different forms of rearranged molecules, such as deletions and duplications. We detected significant amounts
of a common 7.4-kb deletion flanked by a 12-bp direct repeat in all tissues tested from the patient with Pearson syndrome.
In skeletal muscle from the patient with clinical signs of KSS we found significant amounts of a novel 3.7-kb rearrangement
flanked by a 4-bp inverted repeat that was present in the form of deletions as well as duplications. In the patient suffering
from myopathic symptoms of unidentified origin we did not detect rearranged mtDNA in blood but found low levels of two rearranged
mtDNA populations in skeletal muscle, a previously described 7-kb deletion flanked by a 7-bp direct repeat and a novel 6.6-kb
deletion with no repeat. These two populations, however, were unlikely to be the cause of the myopathic symptoms as they were
present at low levels (10–40 ppm). Using a strategy based on screening with long PCR we were able to detect and characterize
high as well as low levels of mtDNA rearrangements in three patients.
Received: 10 March 1997 / Accepted: 20 May 1997 相似文献
2.
Continental‐scale macrofungal assemblage patterns correlate with climate,soil carbon and nitrogen deposition 下载免费PDF全文
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AimThe aim of our paper was to explore expressions of life choices and life chances (aspects of agency within structures) related to power and experiences of health among early unemployed adolescent young men during the transition period to adulthood. These expressions of agency within structure were interpreted in the light of Cockerham’s Health Lifestyles Theory. Furthermore, social constructions of masculinities were addressed in our analysis.MethodsRepeated interviews with ten young men in a cohort of school leavers were analyzed with qualitative content analysis.ConclusionsQualitative research could contribute to develop the understanding of the agency within structure relationships. Future studies need to pay attention to experiences of health among young people at the margin of the labor market in various milieus – and to analyze these in relation to gender constructions and within the frame-work of agency within structure. 相似文献
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Daniela Vullo Leo Syrjänen Marianne Kuuslahti Seppo Parkkila Claudiu T. Supuran 《Journal of enzyme inhibition and medicinal chemistry》2018,33(1):359-363
An anion inhibition study of the β-class carbonic anhydrase, AgaCA, from the malaria mosquito Anopheles gambiae is reported. A series of simple as well as complex inorganic anions, and small molecules known to interact with CAs were included in the study. Bromide, iodide, bisulphite, perchlorate, perrhenate, perruthenate, and peroxydisulphate were ineffective AgaCA inhibitors, with KIs?>?200?mM. Fluoride, chloride, cyanate, thiocyanate, cyanide, bicarbonate, carbonate, nitrite, nitrate, sulphate, stannate, selenate, tellurate, diphosphate, divanadate, tetraborate, selenocyanide, and trithiocarbonate showed KIs in the range of 1.80–9.46?mM, whereas N,N-diethyldithiocarbamate was a submillimolar AgaCA inhibitor (KI of 0.65?mM). The most effective AgaCA inhibitors were sulphamide, sulphamic acid, phenylboronic acid and phenylarsonic acid, with inhibition constants in the range of 21–84?µM. The control of insect vectors responsible of the transmission of many protozoan diseases is rather difficult nowadays, and finding agents which can interfere with these processes, as the enzyme inhibitors investigated here, may arrest the spread of these diseases worldwide. 相似文献
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The Hoechst dye staining method has been successfully applied to the central nervous system in mammals and its use has been demonstrated in intracerebral transplantation. The technique is rapid, simple and based on intrinsic nuclear properties. It was found to be permanent and valid whatever the animal strains or ages, allowing the distinction of rat cells from those of mouse, studied either separately or in a cross-transplantation model. It permitted the detection of grafted cells in the area of transplantation and the observation of early dispersion around the implantation site. Moreover, it can be combined with immunohistochemistry as demonstrated by a myelin marker in a relevant model. Immunodetection can thus help to directly observe grafted cells, at distance from the locus of transplantation, confirming their presence in the graft-type myelin patches.
Because of its rapid performance, this technique can be used systematically after transplantation to check for the presence of grafted cells in the host. 相似文献
Because of its rapid performance, this technique can be used systematically after transplantation to check for the presence of grafted cells in the host. 相似文献
10.
Molecular modelling of protein-carbohydrate interactions. Understanding the specificities of two legume lectins towards oligosaccharides 总被引:2,自引:1,他引:1
By means of a series of new molecular modelling tools, the conformationalbehaviour of mannose-containing di- and trisaccharides boundto either concanavalin A or Lathyrus ochrus isolectin I (LOLI)has been assessed. Tools for estimating and analysing eitherthe rigid or the relaxed potentialenergy surfaces, representing the conformational space availablefor carbohydrates once interacting with lectins, are reportedfor the first time. Restrictions of conformational space arepredicted to occur with different magnitudes, depending on thenature of the glycosidic linkages, as well as the size of thecarbohydrates. Results from these molecular modelling studiesare compared to existing structural data. Not only could theobserved conformations and orientations of carbohydrates incrystalline lectinoligosaccharides complexes be reproduced,but several other likely situations were also predicted to occur.Entropy calculations have been performed for comparison withexperimental thermodynamics data. The results of the simulationcan also help giving an explanation of some observed affinityconstants at the molecular level. concanavalin A Lathyrus ochrus lectin-oligosaccharide molecular modelling 相似文献