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91.
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
92.
Complete complementary sequences are widely used in spectrum spread communications because of their ideal correlation functions. A previous method generates complete complementary sequences with lengths of N^nN (n,N ∈ Z^+). This paper presents a new iterative method to construct complete complementary sequences with lengths of 2^mN (m,N ∈ Z^+). The analysis proves that this method can produce many sequence sets that do not appear in sequence sets generated by the former method, especially shorter sequence sets. The result will certainly increase the application of complete complementary sequences in communication engineering and related fields. 相似文献
93.
首次将液芯波导技术应用于中红外吸收测量的油成分分析领域, 研制的新型MFA-450型红外测油仪的灵敏度比现有同类型仪器提高一个数量级, 检出限为0.01 mg/L(油/萃取剂). 相似文献
94.
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
95.
综合考虑逻辑因素和选择谓词的选择率、谓词本身的复杂度等物理因素后,给出了“联系_选择”及其拓展“联系_选择_投影”两个重要的复合操作的优化算法,提高了查询的执行效率。 相似文献
96.
C. Gianoulakis 《Cellular and molecular life sciences : CMLS》1989,45(5):428-435
Summary Alcoholism and alcohol abuse are serious health problems. Alcohol is known to influence the activity of a number of biological systems, for example the hormonal and neuronal systems. One of the biological systems whose activity is greatly influenced by alcohol is the endogenous opiate system. Alcohol modifies the function of both opiate receptors and opioid peptides. In fact it has been proposed that many of the effects of ethanol are mediated by its effects on the endogenous opiate system. This review will present results from various laboratories on the effects of acute and chronic ethanol treatments on various species, and on the release, biosynthesis and post-translational processing of the endorphins, enkephalins and dynorphins, the three known families of endogenous opioid peptides. Furthermore, the effect of acute and chronic ethanol consumption on the -endorphin system in man, and the possible implications of the functional activity of the endogenous opiate system for the genetic predisposition to alcoholism will be discussed. 相似文献
97.
John C. Oliga 《Systemic Practice and Action Research》1988,1(1):87-112
In social systems science generally, and in management science particularly, recent developments in the variety of types of specific problem-solving methodologies (under the rubric of hard and soft systems approaches) have given an impetus to a line of inquiry, as well as debate on the nature of those methodologies. On the one hand, there has been the view that what we are witnessing is a form of Kuhnian crisis. On the other hand, a complementarist view of developments has been argued and a contingency approach proposed. But one thing has been common among the competing views: a belief that the prospects for further advances in the design and application of those methodologies, and in resolving the current controversies, lie in serious attempts to reconsider and clarify the underlying metatheoretical assumptions and concerns. This paper is an attempt to contribute to such an endeavor. A brief exposition of three methodological foundations (namely, empiricism, hermeneutics, and critique) is made, not only with the purpose of highlighting the nature as well as the limits of their epistemological and ethical claims, but also as a basis for illuminating both the nature of contemporary work on systems inquiry, design, and problem solving and the ongoing debate on what constitutes appropriate criteria for choice of specific methodologies. 相似文献
98.
G. C. Hewitt 《Cellular and molecular life sciences : CMLS》1988,44(4):297-303
Summary Public suspicion of science stems from science's challenging of perceptions and myths about reality, and a public fear of new technology. The result is a susceptibility to pseudoscience. In claiming that creation science is as valid as evolution the creationists misquote scientists and seek to spread their own scientific myths concerning a young age for the earth, an act of creation based on a particular literalist interpretation of the Christian Bible and a single worldwide flood. They use methods of debate and politics, rather than scientific research. A selection of their arguments is examined and the nature of the evidence for evolution is discussed. Problems with the creation science model are noted. In the myth of the hundredth monkey phenomenon, original research is misquoted to denigrate scientific research and support sentimental ideas of paranormal events. The misuse of science is seen as damaging to society because it reduces the effective gathering and application of scientific information. However, pseudoscience provides a valuable guide to gaps in public scientific education. 相似文献
99.
B. Lindblad W. E. Burkel T. W. Wakefield L. M. Graham J. C. Stanley 《Cellular and molecular life sciences : CMLS》1988,44(3):223-224
Summary The most important effect of dihydroergotamine is venoconstriction, but certain metabolic effects and changes in vessel prostanoid activity have also been suggested. In this study endothelial cell production of 6-keto PGF1 and TxB2 was quantitated in vitro. No evidence of altered prostanoid production was noted after incubation with dihydroergotamine (exposure ranging from 5×10–3 to 5×10–7 g/l). Similarly, no effect of dihydroergotamine on the growth rates of endothelial cells or smooth muscle cells in vitro was documented. 相似文献
100.
本文论述了钢丝绳断丝定量检测中径向随机晃动误差存在的必然性及该误差对定量检测的影响,基于模拟实验结果,给出了适用于多种类型钢丝绳的V_H-S数学关系式;提出了波形因素的概念与形式,并用软件实现了钢丝绳断丝定量检测中径向随机晃动误差的补偿。 相似文献