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Congenital MHC class II deficiency or bare lymphocyte syndrome (BLS; McKusick 209920) is caused by defects in trans-acting regulatory factors that control MHC class II expression and is therefore a disease of gene regulation. There are at least four complementation groups and the genetic and molecular dissection of this rare disease has contributed considerably to our current understanding of the molecular mechanisms governing MHC class II expression. Identification of the gene that is defective in BLS complementation group A, CIITA (MHC class II transactivator), has led to the discovery that CIITA acts as a master control factor of MHC class II expression. We have identified the CIITA mutations in a second patient from BLS group A. Two novel mutations abolish CIITA function, as shown by transfection experiments. Molecular analysis of these two novel mutations, together with the one described earlier in the first patient, is informative in terms of CIITA structure-function relationships. Received: 19 October 1996 / Revised: 25 November 1996  相似文献   
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A survey of 75 biomedical articles dealing with stress-dependent blood parameters in caged primates revealed that the conditions under which blood collection occurred were in most cases described either not at all or so haphazardly that it would be impossible to determine if humane handling procedures were used and basic principles of scientific methodology applied. These findings were unexpected because there is ample scientific evidence not only that stress-sensitive research data are influenced by traditional blood sampling procedures, but also that those data-biasing effects can be avoided. If dependent variables of the blood collection procedure are not controlled, data variability will increase, automatically increasing the number of animals needed for statistical analysis. For ethical and scientific reasons, it was recommended that editors of biomedical journals require authors to provide sufficient information of the blood collection--and, when applicable, the sedative injection--procedure to ensure that the experiment was done with the smallest number of animals possible to achieve statistical significance and that the investigation can be replicated reliably in another laboratory and the research data interpreted with reasonable accuracy.  相似文献   
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Background: Cardiotrophin-1 is newly discovered chemokin with a lot of functions. Aim of our work was to describe most important of them. Methods: systematically scan of available scientific resources. Results: Cardiotrophin-1 stimulates the proliferation of cardiomyocytes. Cardiotrophin-1 expression and plasma values are elevated in individuals with heart failure and have high diagnostic efficacy for the heart failure. Plasma values are also an independent prognostic factor. Preliminary findings suggest that the determination of plasma cardiotrophin-1 may be useful for the follow-up of hypertensive heart disease in routine clinical practice. Cardiotrophin-1 also plays an important cardioprotective effect on myocardial damage, is a potent regulator of signaling in adipocytes in vitro and in vivo and potentiates the elevation the acute-phase proteins. Cardiotrophin-1 may play also an important protective role in other organ systems (such as hematopoietic, neuronal, developmental). Conclusion: Cardiotrophin is a newly discovered chemokin with a lot of system effects and is stable in system circulation hence permitting its development in the routine clinical investigation.  相似文献   
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Summary Two new shuttle promoter-probe vectors forE.coli andStreptomycetes were constructed. Plasmid vectors allow the cloning of promoter-carrying DNA fragments based on the resistance to neomycin and chloramphenicol both, inE.coli andStreptomycetes. Using these vectors several promoter regions active either inE.coli orS.lividans were identified from the actinophage DNA.  相似文献   
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