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61.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome 总被引:7,自引:0,他引:7
Arts HH Doherty D van Beersum SE Parisi MA Letteboer SJ Gorden NT Peters TA Märker T Voesenek K Kartono A Ozyurek H Farin FM Kroes HY Wolfrum U Brunner HG Cremers FP Glass IA Knoers NV Roepman R 《Nature genetics》2007,39(7):882-888
Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, Senior-L?ken syndrome (SLSN) or Joubert syndrome (JBTS). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1-like protein (RPGRIP1L) is a homolog of RPGRIP1 (RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis. We show that RPGRIP1L interacts with nephrocystin-4 and that mutations in the gene encoding nephrocystin-4 (NPHP4) that are known to cause SLSN disrupt this interaction. RPGRIP1L is ubiquitously expressed, and its protein product localizes to basal bodies. Therefore, we analyzed RPGRIP1L as a candidate gene for JBTS and identified loss-of-function mutations in three families with typical JBTS, including the characteristic mid-hindbrain malformation. This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder. 相似文献
62.
This paper describes a time-domain boundary element method developed to analyze the interactions of acoustic and elastic waves near the interfaces between water and an anisotropic elastic solid. Two models are analyzed with one being the interface between two half spaces of fluid and solid and the other being a fluid region sandwiched by half space domains of anisotropic elastic solids. Both monopole and dipole point sources are used to generate an initial pressure wave in the fluid. Some snapshots of the transient wave behavior near the fluid-solid interfaces are given. The effect of the anisotropy in the solid on the pressure waveforms in the fluid is discussed. The numerical results allow detailed arrival identification and interpretation of acoustic and elastic waves propagating along the fluid-solid interfaces. 相似文献
63.
针对航空发动机传感器监测的退化参数提取困难,易受噪声干扰及发动机剩余使用寿命预测精度不足等问题,利用最大信息系数、贝叶斯优化算法和类别特征梯度提升算法,提出了一种新的发动机剩余使用寿命预测模型。首先,为有效解决特征提取不足的问题,对采集的传感器历史监测特征进行最大信息系数相关性计算,提取出对发动机寿命运行周期影响较大的关键退化特征。其次,为解决剩余使用寿命预测中的梯度偏差及预测偏移问题,使用基于贝叶斯优化的类别特征梯度提升方法对航空发动机进行剩余使用寿命预测。最后,在美国航空航天局提供的商用模块化航空推进系统仿真数据集上进行实验,结果表明所提预测方法的性能较好,验证了该方法的有效性。 相似文献
64.
65.
Daniel S. Yeung Wing W. Y. Ng Aki P. F. Chan Patrick P. K. Chan Michael Firth Eric C. C. Tsang 《系统科学与系统工程学报(英文版)》2007,16(2):166-180
Company bankruptcies cost billions of dollars in losses to banks each year. Thus credit risk prediction is a critical part of a bank's loan approval decision process. Traditional financial models for credit risk prediction are no longer adequate for describing today's complex relationship between the financial health and potential bankruptcy of a company. In this work, a multiple classifier system (embedded in a multiple intelligent agent system) is proposed to predict the financial health of a company. In our model, each individual agent (classifier) makes a prediction on the likelihood of credit risk based on only partial information of the company. Each of the agents is an expert, but has limited knowledge (represented by features) about the company. The decisions of all agents are combined together to form a final credit risk prediction. Experiments show that our model out-performs other existing methods using the benchmarking Compustat American Corporations dataset. 相似文献
66.
On-chip natural assembly of silicon photonic bandgap crystals. 总被引:20,自引:0,他引:20
Photonic bandgap crystals can reflect light for any direction of propagation in specific wavelength ranges. This property, which can be used to confine, manipulate and guide photons, should allow the creation of all-optical integrated circuits. To achieve this goal, conventional semiconductor nanofabrication techniques have been adapted to make photonic crystals. A potentially simpler and cheaper approach for creating three-dimensional periodic structures is the natural assembly of colloidal microspheres. However, this approach yields irregular, polycrystalline photonic crystals that are difficult to incorporate into a device. More importantly, it leads to many structural defects that can destroy the photonic bandgap. Here we show that by assembling a thin layer of colloidal spheres on a silicon substrate, we can obtain planar, single-crystalline silicon photonic crystals that have defect densities sufficiently low that the bandgap survives. As expected from theory, we observe unity reflectance in two crystalline directions of our photonic crystals around a wavelength of 1.3 micrometres. We also show that additional fabrication steps, intentional doping and patterning, can be performed, so demonstrating the potential for specific device applications. 相似文献
67.
Programmable and autonomous computing machine made of biomolecules. 总被引:42,自引:0,他引:42
Devices that convert information from one form into another according to a definite procedure are known as automata. One such hypothetical device is the universal Turing machine, which stimulated work leading to the development of modern computers. The Turing machine and its special cases, including finite automata, operate by scanning a data tape, whose striking analogy to information-encoding biopolymers inspired several designs for molecular DNA computers. Laboratory-scale computing using DNA and human-assisted protocols has been demonstrated, but the realization of computing devices operating autonomously on the molecular scale remains rare. Here we describe a programmable finite automaton comprising DNA and DNA-manipulating enzymes that solves computational problems autonomously. The automaton's hardware consists of a restriction nuclease and ligase, the software and input are encoded by double-stranded DNA, and programming amounts to choosing appropriate software molecules. Upon mixing solutions containing these components, the automaton processes the input molecule via a cascade of restriction, hybridization and ligation cycles, producing a detectable output molecule that encodes the automaton's final state, and thus the computational result. In our implementation 1012 automata sharing the same software run independently and in parallel on inputs (which could, in principle, be distinct) in 120 microl solution at room temperature at a combined rate of 109 transitions per second with a transition fidelity greater than 99.8%, consuming less than 10-10 W. 相似文献
68.
Piccioni G Drossart P Sanchez-Lavega A Hueso R Taylor FW Wilson CF Grassi D Zasova L Moriconi M Adriani A Lebonnois S Coradini A Bézard B Angrilli F Arnold G Baines KH Bellucci G Benkhoff J Bibring JP Blanco A Blecka MI Carlson RW Di Lellis A Encrenaz T Erard S Fonti S Formisano V Fouchet T Garcia R Haus R Helbert J Ignatiev NI Irwin PG Langevin Y Lopez-Valverde MA Luz D Marinangeli L Orofino V Rodin AV Roos-Serote MC Saggin B Stam DM Titov D Visconti G 《Nature》2007,450(7170):637-640
Venus has no seasons, slow rotation and a very massive atmosphere, which is mainly carbon dioxide with clouds primarily of sulphuric acid droplets. Infrared observations by previous missions to Venus revealed a bright 'dipole' feature surrounded by a cold 'collar' at its north pole. The polar dipole is a 'double-eye' feature at the centre of a vast vortex that rotates around the pole, and is possibly associated with rapid downwelling. The polar cold collar is a wide, shallow river of cold air that circulates around the polar vortex. One outstanding question has been whether the global circulation was symmetric, such that a dipole feature existed at the south pole. Here we report observations of Venus' south-polar region, where we have seen clouds with morphology much like those around the north pole, but rotating somewhat faster than the northern dipole. The vortex may extend down to the lower cloud layers that lie at about 50 km height and perhaps deeper. The spectroscopic properties of the clouds around the south pole are compatible with a sulphuric acid composition. 相似文献
69.
Lai CW Kim NY Utsunomiya S Roumpos G Deng H Fraser MD Byrnes T Recher P Kumada N Fujisawa T Yamamoto Y 《Nature》2007,450(7169):529-532
The effect of quantum statistics in quantum gases and liquids results in observable collective properties among many-particle systems. One prime example is Bose-Einstein condensation, whose onset in a quantum liquid leads to phenomena such as superfluidity and superconductivity. A Bose-Einstein condensate is generally defined as a macroscopic occupation of a single-particle quantum state, a phenomenon technically referred to as off-diagonal long-range order due to non-vanishing off-diagonal components of the single-particle density matrix. The wavefunction of the condensate is an order parameter whose phase is essential in characterizing the coherence and superfluid phenomena. The long-range spatial coherence leads to the existence of phase-locked multiple condensates in an array of superfluid helium, superconducting Josephson junctions or atomic Bose-Einstein condensates. Under certain circumstances, a quantum phase difference of pi is predicted to develop among weakly coupled Josephson junctions. Such a meta-stable pi-state was discovered in a weak link of superfluid 3He, which is characterized by a 'p-wave' order parameter. The possible existence of such a pi-state in weakly coupled atomic Bose-Einstein condensates has also been proposed, but remains undiscovered. Here we report the observation of spontaneous build-up of in-phase ('zero-state') and antiphase ('pi-state') 'superfluid' states in a solid-state system; an array of exciton-polariton condensates connected by weak periodic potential barriers within a semiconductor microcavity. These in-phase and antiphase states reflect the band structure of the one-dimensional polariton array and the dynamic characteristics of metastable exciton-polariton condensates. 相似文献
70.