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排序方式: 共有250条查询结果,搜索用时 15 毫秒
81.
Yasaman Pakdaman Siren Berland Helene J. Bustad Sigrid Erdal Bryony A. Thompson Paul A. James Kjersti N. Power Stle Ellingsen Martin Krooni Line I. Berge Adrienne Sexton Laurence A. Bindoff Per M. Knappskog Stefan Johansson Ingvild Aukrust 《International journal of molecular sciences》2021,22(11)
Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar cognitive affective syndrome and varying clinical overlap with SCAR16. However, little is known about the molecular properties of dominant STUB1 variants. Here, we describe three SCA48 families with novel, dominantly inherited STUB1 variants (p.Arg51_Ile53delinsProAla, p.Lys143_Trp147del, and p.Gly249Val). All the patients developed symptoms from 30 years of age or later, all had cerebellar atrophy, and 4 had cognitive/psychiatric phenotypes. Investigation of the structural and functional consequences of the recombinant C-terminus of HSC70-interacting protein (CHIP) variants was performed in vitro using ubiquitin ligase activity assay, circular dichroism assay and native polyacrylamide gel electrophoresis. These studies revealed that dominantly and recessively inherited STUB1 variants showed similar biochemical defects, including impaired ubiquitin ligase activity and altered oligomerization properties of the CHIP. Our findings expand the molecular understanding of SCA48 but also mean that assumptions concerning unaffected carriers of recessive STUB1 variants in SCAR16 families must be re-evaluated. More investigations are needed to verify the disease status of SCAR16 heterozygotes and elucidate the molecular relationship between SCA48 and SCAR16 diseases. 相似文献
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83.
In modern societies, people spend about 90 percent of their time inside buildings. The challenge of building physics is to
ensure that buildings are planned, constructed and built to provide a comfortable and healthy working and living environment.
As construction style has changed during recent years, the planning phase has to be much more precise and the need of simulation
programs that respond to every little change arises. An increasing problem in Austria is the indoor humidity. In the field
of renovated buildings with airtight new building envelopes, mould growth due to high indoor relative humidity (RH) is a persistent
problem. On the other hand, in recently realized Austrian passive houses with an air treatment system, the low humidity level
of the indoor air is a problem with which scientists have been struggling for some time. It has been observed in numerous
measurements and it is also easily computationally detectable that in winter period the indoor relative humidity level often
drops below 30% RH. Low and high relative humidity levels have negative effects on the comfort feeling and health of the occupants
of the dwelling and should therefore be avoided. However, it is expensive to increase or decrease the humidity in houses mechanically.
Therefore, the existing room moisture should be used sensibly in buildings with a ventilation system. In buildings with a
high indoor humidity it is necessary to adjust the ventilation depended on moisture production. This paper focuses on low
indoor humidity and presents some different methods by which the indoor relative humidity can be regulated. The effects of
adapting parameters such as ventilation rate and buffering material in the dwelling were clearly reflected in the measured
temperature and relative humidity. “BuildOpt_VIE” software developed at the Vienna University of Technology was used for the
dynamic building simulation in this study. 相似文献
84.
Irradiation into the visible adsorption band of four trans–4–dialkylamino–4′-nitroazobenzenes not subject to azo–hydra–zone tautomerism leads to conversion of triplet oxygen to singlet oxygen. Evidence for formation of singlet oxygen is provided by characterization of cis–dibenzoylstilbene as the predominant oxidation product of tetraphenylcyclopenta–dienone and by inhibition of the oxidation by DABCO and other singlet oxygen quenchers. Addition of the same concentration of 2, 6–di–t–butyl–phenolhas essentially no effect. The rates of disappearance of the singlet oxygen scavengers bilirubin and 1, 3–diphenylisobenzofuran are also reduced in the presence of DABCO. Quantum yields of singlet oxygen formation between 0. 03–2 × W-3 were obtained for the compounds examined in di–n–butylterephthalate. The singlet oxygen yield parallels the triplet yield obtained from the same azo compounds by laser flash photolysis. 相似文献
85.
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87.
Desiderato Otello; MacKinnon John R.; Hissom Helene 《Canadian Metallurgical Quarterly》1974,87(2):208
Observed gastric ulcer formation in groups of female albino Charles River unrestrained rats (N = 123) sacrificed at varying intervals following the end of a single, 6-hr shock-stress session. Significant ulcer production was not found unless Ss experienced a minimum of 2 hr poststress rest prior to sacrifice. Findings with appropriate control groups implicate the sudden reversal from stressful to "safe" (home cage) conditions, rather than delay per se, as the major ulcerogenic factor. (15 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
88.
Assessing the volume of soil requiring remediation and the accuracy of this assessment constitutes an essential step in polluted site management. If this remediation volume is not properly assessed, misclassification may lead both to environmental risks (polluted soils may not be remediated) and financial risks (unexpected discovery of polluted soils may generate additional remediation costs). To minimize such risks, this paper proposes a geostatistical methodology based on stochastic simulations that allows the remediation volume and the uncertainty to be assessed using investigation data. The methodology thoroughly reproduces the conditions in which the soils are classified and extracted at the remediation stage. The validity of the approach is tested by applying it on the data collected during the investigation phase of a former lead smelting works and by comparing the results with the volume that has actually been remediated. This real remediated volume was composed of all the remediation units that were classified as polluted after systematic sampling and analysis during clean-up stage. The volume estimated from the 75 samples collected during site investigation slightly overestimates (5.3% relative error) the remediated volume deduced from 212 remediation units. Furthermore, the real volume falls within the range of uncertainty predicted using the proposed methodology. 相似文献
89.
Human serum albumin (HSA) binds numerous molecules, among which are suitably designed MRI contrast agents. The rotational
tumbling of the protein is thus one of the parameters likely to affect the in vivo relaxivity of these agents. Literature
unveils discrepancies about the value of the rotational correlation time (τR) of HSA. In the present work, the τR of this protein has been determined by studying the deuterium relaxation rate of small molecules known for their strong binding
to HSA (warfarin and 4-hydroxycoumarin). Values of approx. 20–22 ns are obtained at 310 K in a 4% HSA solution and are in
good agreement with the theoretical predictions. 相似文献
90.
The authors propose that how people want to feel ("ideal affect") differs from how they actually feel ("actual affect") and that cultural factors influence ideal more than actual affect. In 2 studies, controlling for actual affect, the authors found that European American (EA) and Asian American (AA) individuals value high-arousal positive affect (e.g., excitement) more than do Hong Kong Chinese (CH). On the other hand, CH and AA individuals value low-arousal positive affect (e.g., calm) more than do EA individuals. For all groups, the discrepancy between ideal and actual affect correlates with depression. These findings illustrate the distinctiveness of ideal and actual affect, show that culture influences ideal affect more than actual affect, and indicate that both play a role in mental health. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献