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The cytoskeleton in Chediak-Higashi syndrome fibroblasts 总被引:2,自引:0,他引:2
The Chediak-Higashi syndrome (CHS) trait is expressed in cultured human skin fibroblasts as an abnormal perinuclear concentration of moderately enlarged lysosomes. The cytoskeleton of CHS fibroblasts appears intact. Microtubules are normal in number and morphology, as assessed by colchicine binding studies, antitubulin immunofluorescence, and electron microscopy. Deformability by shear force is unaltered and microfilaments are abundant. However, CHS lysosomes appear to interact abnormally with the cytoskeleton, since the perinculear aggregation partially disperses after depolymerization of cell microtubules with colchicine. These results suggest that CHS is associated with a defect of either the lysosomal membrane itself or of lysosomal membrane- microtubule interaction. 相似文献
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Pani MA Seidl C Bieda K Seissler J Krause M Seifried E Usadel KH Badenhoop K 《Clinical endocrinology》2002,56(6):773-777
OBJECTIVE: Addison's disease is associated with particular haplotypes of the human leucocyte antigen (HLA) region [DQA1*0501-DQB1*0201 (DQ2) and DQA1*0301-DQB1*0302 (DQ8)]. This locus harbours several human endogenous retroviral (HERV) long-terminal repeats (LTR). LTRs within the HLA region have been shown to confer additional susceptibility to type 1 diabetes and rheumatoid arthritis. DESIGN: We investigated the role of LTR3 and LTR13, both of which are located adjacent to the DQB1 gene, in Addison's disease. PATIENTS: Eighty-seven patients and 160 controls were genotyped for HLA-DQA, -DQB, and the presence or absence of LTR3 and LTR13. RESULTS: Significantly more patients' HLA alleles than those of controls carried the LTR13 insertion (19.0% vs. 10.6%, P = 0.0143), whereas there was only a trend for LTR3 (allele-wise chi-squared test: P = 0.0941). Both, LTR3 and LTR13 are in strong linkage disequilibrium with DQ8, which itself was significantly more frequent in patients than in controls (29.9% vs. 15.0%, P = 0.0089). However, significantly more alleles of DQ8+ patients than of DQ8+ controls carried the LTR13 insertion (44.2% vs. 18.8%, P = 0.0119), whereas we did not observe any difference for LTR3 in the DQ8+ subset (30.5 vs. 23.1%, P = 0.9416). CONCLUSIONS: We have found preliminary evidence that the endogenous retroviral element DQ-LTR13, but not LTR3, is associated with Addison's disease. LTR13 appears to enhance HLA-DQ8 mediated disease risk. This retroviral insertion therefore might represent a novel susceptibility factor in Addison's disease, but these findings need to be confirmed in a larger data set. 相似文献
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Erhard W. Rothe 《RSC advances》2022,12(12):7584
Leontyev and colleagues presented the results of an experiment and of its theoretical consequences. The interpretations were based on model-fits to that experiment. Unfortunately, they used two demonstrably incorrect parameters in their models. When the correct parameters are used, the best fits, and the corresponding theoretical implications, are interchanged. Specifically, they deduced an inapplicability of the Laplace–Young equation to the compression of nanoparticles. After their faulty parameters are corrected, this is no longer proven. An equation based on Laplace–Young pressure was dismissed by Leontyev et al., but when recalculated with corrected parameters, it fits their experimental data points.Leontyev and colleagues presented the results of an experiment and of its theoretical consequences. 相似文献
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Jan Sörensen Andrea Jarisch Carmelo Smorta Ulrike Köhl Peter Bader Erhard Seifried Halvard Bönig 《Transfusion》2013,53(4):761-765
BACKGROUND: Cancer in children, and specifically cancer requiring autologous stem cell transplantation, is rare. As a consequence, though, experience with pediatric stem cell apheresis collections is limited. Challenges of apheresis in small children (<20 kg) include small total blood volume, issues with venous access, concerns about tolerable anticoagulant doses, and limitations in product volumes that can safely be collected. STUDY DESIGN AND METHODS: This article presents a small series of autologous “stem cell” apheresis procedures in infants and toddlers weighing between 5.5 and 20 kg, the first ones performed with a novel leukapheresis device (Spectra Optia MNC v.3.0, Terumo BCT) to be reported. Some features of the system are described that can be used to achieve favorable apheresis outcomes in small children. RESULTS: Apheresis procedures were uneventful and successful with similar extraction efficiencies (median preapheresis collection efficiency [CE2], 36%) as in adult patients. At 58%, platelet attrition was considerable. CONCLUSION: Our data indicate that stem cell apheresis with the Spectra Optia MNC v.3.0 in very small donors is feasible, safe, and associated with very small product volumes. 相似文献
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