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排序方式: 共有967条查询结果,搜索用时 15 毫秒
1.
Franois Ancien Fabrizio Pucci Marianne Rooman 《International journal of molecular sciences》2021,22(9)
Sphingomyelin phosphodiesterase (SMPD1) is a key enzyme in the sphingolipid metabolism. Genetic SMPD1 variants have been related to the Niemann-Pick lysosomal storage disorder, which has different degrees of phenotypic severity ranging from severe symptomatology involving the central nervous system (type A) to milder ones (type B). They have also been linked to neurodegenerative disorders such as Parkinson and Alzheimer. In this paper, we leveraged structural, evolutionary and stability information on SMPD1 to predict and analyze the impact of variants at the molecular level. We developed the SMPD1-ZooM algorithm, which is able to predict with good accuracy whether variants cause Niemann-Pick disease and its phenotypic severity; the predictor is freely available for download. We performed a large-scale analysis of all possible SMPD1 variants, which led us to identify protein regions that are either robust or fragile with respect to amino acid variations, and show the importance of aromatic-involving interactions in SMPD1 function and stability. Our study also revealed a good correlation between SMPD1-ZooM scores and in vitro loss of SMPD1 activity. The understanding of the molecular effects of SMPD1 variants is of crucial importance to improve genetic screening of SMPD1-related disorders and to develop personalized treatments that restore SMPD1 functionality. 相似文献
2.
分析了设备对PCB电镀过程中孔中镀液更新之影响,为有效地利用设备条件改善孔中镀液的更新提供了一些方法及理论数据。 相似文献
3.
This study investigated the relationship between self-appraisals of performance, symptom severity and post-event rumination in social phobia, and evaluated the effect of treatment on these variables. A socially phobic group and a nonanxious control group performed an impromptu speech and were told that their performance would be evaluated. Participants appraised their performance immediately after the speech and 1 week later, and the frequency of post-event rumination during the week following the speech was assessed. The socially phobic group maintained the negative appraisals of their speech over the week, whereas the nonclinical group showed increased positivity about their performance The socially phobic group also engaged in more negative rumination than controls. Treatment improved perceptions of performance and reduced negative rumination. These results are discussed in the light of cognitive models of social phobia. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
4.
Docherty Nancy M.; Cohen Alex S.; Nienow Tasha M.; Dinzeo Thomas J.; Dangelmaier Ruth E. 《Canadian Metallurgical Quarterly》2003,112(3):469
This study examined the degree to which different types of communication disturbances in the speech of 48 schizophrenia patients and 28 controls were variable and state related versus stable and traitlike. Clinically rated formal thought disorder and 5 types of referential disturbance showed substantial stability within participants over time. The sixth type of referential disturbance, the vague reference, was not stable over time. Formal thought disorder was associated with the severity of core psychotic symptoms in patients, whereas referential disturbances showed little or no association with positive or negative symptom severity. Furthermore, changes in psychotic symptoms over time were accompanied by corresponding changes in formal thought disorder but not referential disturbances. These results support the idea that some types of referential disturbances are traitlike and may be reflective of vulnerability as well as manifest illness. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
5.
6.
Alpass Fiona; Flett Ross; Humphries Steve; Massey Claire; Morriss Stuart; Long Nigel 《Canadian Metallurgical Quarterly》2004,11(3):270
Previous studies have identified a number of different farm stressors and have reported gender and age differences in levels of stress. This study aimed to determine stress experienced by New Zealand dairy farmers, particularly in relation to adoption of new technology and its relationship to age and gender. Measures of farm stress and adoption of technology were completed by 985 dairy farmers. The highest levels of stress were reported for time pressures, machinery breakdown, weather, and government policies. Stress related to new technologies occurred rarely. Women reported more stress and higher levels of stress for understanding new technologies. There was also an increase in severity of stress with age related to new technologies. Overall, stress levels were moderate and may reflect favorable economic conditions. The findings suggest a need to tailor stress interventions to meet specific needs. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
7.
Servin Anna; Nordenstr?m Anna; Larsson Agne; Bohlin Gunilla 《Canadian Metallurgical Quarterly》2003,39(3):440
Gender-typed behaviors and interests were investigated in 26 girls, aged 2-10 years, affected with congenital adrenal hyperplasia (CAH) and in 26 unaffected girls matched for age. Girls with CAH were more interested in masculine toys and less interested in feminine toys and were more likely to report having male playmates and to wish for masculine careers. Parents of girls with CAH rated their daughters' behaviors as more boylike than did parents of unaffected girls. A relation was found between disease severity and behavior indicating that more severely affected CAH girls were more interested in masculine toys and careers. No parental influence could be demonstrated on play behavior, nor did the comparison of parents' ratings of wished for behavior versus perceived behavior in their daughters indicate an effect of parental expectations. The results are interpreted as supporting a biological contribution to differences in play behavior between girls with and without CAH. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
8.
为了确定非牛顿流体气流搅拌流动传热特征,对气体有效分散区域(载点)提出了无因次准数关联式,并就两种不同叶轮搅拌的通气管外传热系数作了比较。 相似文献
9.
将聚苯乙烯(PS)材料在吉达和吐鲁番2种典型干热自然环境中进行自然暴晒,对PS材料在自然老化过程中的黄色指数、光泽度、雾度等光学性能和表面形貌进行了测试与表征,研究了PS在吉达和吐鲁番的老化行为差异。通过对吐鲁番和吉达两地的太阳辐照和温度2种关键环境条件的量化比较,计算出了2种干热环境的相对严酷度。结果表明,PS材料在干热环境自然老化的过程中出现了光学性能下降,表面颜色变黄,样品发生明显的老化失效的现象,此外,样品在吉达的光学性能下降幅度和颜色变黄程度均高于吐鲁番。通过比较PS材料在2个试验地点的光学性能差异,验证了吐鲁番相对吉达的环境严酷度为0.66。 相似文献
10.
本文介绍了一种特殊的高转速、无稳心搅拌系统,具备简洁、高效、稳定、安全的特点,经使用证明,效果良好,性能可靠,为高速搅拌及无稳心反应釜的应用提供了一条新的设计及运用的途径。 相似文献