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171.
J A Martignetti A A Aqeel W A Sewairi C E Boumah M Kambouris S A Mayouf K V Sheth W A Eid O Dowling J Harris M J Glucksman S Bahabri B F Meyer R J Desnick 《Nature genetics》2001,28(3):261-265
The inherited osteolyses or 'vanishing bone' syndromes are a group of rare disorders of unknown etiology characterized by destruction and resorption of affected bones. The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950). We recently described an autosomal recessive form of multicentric osteolysis with carpal and tarsal resorption, crippling arthritic changes, marked osteoporosis, palmar and plantar subcutaneous nodules and distinctive facies in a number of consanguineous Saudi Arabian families. We localized the disease gene to 16q12-21 by using members of these families for a genome-wide search for homozygous-by-descent microsatellite markers. Haplotype analysis narrowed the critical region to a 1.2-cM region that spans the gene encoding MMP-2 (gelatinase A, collagenase type IV; (ref. 3). We detected no MMP2 enzymatic activity in the serum or fibroblasts of affected family members. We identified two family-specific homoallelic MMP2 mutations: R101H and Y244X. The nonsense mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains. Based on molecular modeling, the missense mutation disrupts hydrogen bond formation within the highly conserved prodomain adjacent to the catalytic zinc ion. 相似文献
172.
173.
基于层面信息的路径优化 总被引:5,自引:0,他引:5
根据分层物体快速成型(LOM)中零件逐层累积的特点,从缩短加工时间、提高制件效率方面着手阐述了路径优化的必要性,针对LOM机的运动机理和软件数据结构,给出了扫描路径优化的原理,将图论中的便宜算法用于LOM机的扫描路径优化。 相似文献
174.
研究以水泥处理固体有机物时,有机物对水泥水化的影响。以膜流模式说明水份在水泥浆体内传输的现象。水膜存在半干之水泥浆体,其厚度小于100nm,膜流由离分压所驱动,而离分压来自分子间作用力。膜拟结果发现,水泥浆体内局部位置可用以进行水化之水量为Q=-Aslv/6vπ。当有机物添加在水泥浆体内时,会影响Hamaker常数,Aslv因此可能使膜流不稳定或完全抑制膜流,因而使水泥浆体内局部缺水,影响水化进行,造成成品强度降低,影响品质。 相似文献
175.
The highest specific activity of thiamin pyrophosphokinase was found in the cerebellum, and lower activity in cerebral cortex and midbrain. The regional difference in the enzyme activity was similar to that in thiamin content and the influx rate in rat brain, suggesting that the enzyme is involved in the thiamin transport. 相似文献
176.
量子力学是当前物理学及其相关科学的重要科学分支,也是当前许多新科学技术中的重要应用的基础。本书包含了现代新科学技术工程师所需要的量子力学方面的新材料,如研究和了解原子核、原子、分子和固体材料,以及激光器和其他量子光学器件所需要的科学资料等。 相似文献
177.
R.E. Kastner 《Studies in History and Philosophy of Science Part B: Studies in History and Philosophy of Modern Physics》2005,36(4):649-658
A modified version of Young's experiment by Shahriar Afshar demonstrates that, prior to what appears to be a “which-way” measurement, an interference pattern exists. Afshar has claimed that this result constitutes a violation of the Principle of Complementarity. This paper discusses the implications of this experiment and considers how Cramer's Transactional Interpretation easily accommodates the result. It is also shown that the Afshar experiment is analogous in key respects to a spin one-half particle prepared as “spin up along x”, subjected to a nondestructive confirmation of that preparation, and post-selected in a specific state of spin along z. The terminology “which-way” or “which-slit” is critiqued; it is argued that this usage by both Afshar and his critics is misleading and has contributed to confusion surrounding the interpretation of the experiment. Nevertheless, it is concluded that Bohr would have had no more problem accounting for the Afshar result than he would in accounting for the aforementioned pre- and post-selection spin experiment, in which the particle's preparation state is confirmed by a nondestructive measurement prior to post-selection. In addition, some new inferences about the interpretation of delayed choice experiments are drawn from the analysis. 相似文献
178.
179.
Induction of hemopoietic chimerism in the caprine fetus by intraperitoneal injection of fetal liver cells 总被引:1,自引:0,他引:1
R. D. Pearce D. Kiehm D. T. Armstrong P. B. Little J. W. Callahan L. R. Klunder J. T. R. Clarke 《Cellular and molecular life sciences : CMLS》1989,45(3):307-308
Summary Intraperitoneal injection of allogeneic liver cells from 43-day-old male fetuses into normal 60-day female goat fetuses resulted in persistent hemopoietic chimerism in surviving recipients without clinical evidence of graft-versus-host disease. Transplantation of normal fetal liver cells into preimmunocompetent goat fetuses affected with -D-mannosidosis may provide an alternative strategy for evaluating hemopoietic stem cell transplantation in the treatment of human lysosomal storage diseases. 相似文献
180.
P. Levy G. Cherqui A. Robert D. Wicek J. Picard 《Cellular and molecular life sciences : CMLS》1989,45(6):588-591
Summary During the spontaneous differentiation (day 5 to day 15 of the culture) of Caco-2 cells, the sulfation of cell layer glycosaminoglycans increased, whereas protein kinase C activity was concomitantly redistributed from the membrane to the cytosol. The protein kinase C activators, 4-phorbol 12-myristate, 13-acetate and 1,2-dioctanoyl-glycerol inhibited glycosaminoglycan sulfation. By contrast, 4-phorbol 12, 13 didecanoate was ineffective.These results suggest that membrane-bound PKC may exert a modulatory effect on glycosaminoglycan sulfation, and this effect is gradually attenuated as Caco-2 cell differentiation progresses. 相似文献