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The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.  相似文献   
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The interaction between the construction market and the overall economy has attracted much attention, but few studies have investigated the influence of the property market on the construction market in terms of property price. The disaggregated data of Hong Kong’s housing and retail construction sectors are collected to investigate the impact of property price on construction output. The newly developed autoregressive distributed lag (ARDL) bounds testing approach and the error correction (EC)-based Granger causality test are employed. The bounds testing results suggest that there exist stable long-run relationships between construction output and property price for both housing and retail construction sectors. Specifically, a 1.00% increase in the housing price and retail price lead to a 0.55% and 0.42% increase in construction outputs for the two sectors respectively. In addition, the Granger causality tests confirm a distinct long-run causal flow from property price to construction output. Furthermore, the proposed ARDL approach provides an effective method for forecasting construction output.  相似文献   
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An X‐ray crystal structure of Kelch‐like ECH‐associated protein (Keap1) co‐crystallised with (1S,2R)‐2‐[(1S)‐1‐[(1,3‐dioxo‐2,3‐dihydro‐1H‐isoindol‐2‐yl)methyl]‐1,2,3,4‐tetrahydroisoquinolin‐2‐carbonyl]cyclohexane‐1‐carboxylic acid (compound (S,R,S)‐ 1 a ) was obtained. This X‐ray crystal structure provides breakthrough experimental evidence for the true binding mode of the hit compound (S,R,S)‐ 1 a , as the ligand orientation was found to differ from that of the initial docking model, which was available at the start of the project. Crystallographic elucidation of this binding mode helped to focus and drive the drug design process more effectively and efficiently.  相似文献   
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We propose a dynamic mobility management framework for Internet Protocol version 6 (IPv6) and policy enforcement enabled heterogenous wireless networks. Policies and policy rules are defined depending on network infrastructure facilities, service agreements and negotiation results. Each traffic is coupled with an identifiable traffic flow while the heterogenous interface flow bindings are regulated by polices. The network selection, flow distribution, handovers and mobility procedures are flexible and we propose to improve the decision making via Multiple Attributes Decision Making (MADM). Techniques considered in the framework include the IPv6 based Network Mobility (NEMO), multihoming capability, transparent vertical handovers, horizontal handovers and dynamic policy enforcement matching process to improve the Quality of Service (QoS), Quality of Experience (QoE) and ubiquitous connectivity. A experiment testbed and simulation models have been constructed to verify the mobility framework performance in a heterogeneous WiFi, WiMax and UMTS hybrid environment.  相似文献   
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To enable robust video transmission over heterogeneous networks, the hierarchical B-picture prediction structure is employed in the state-of-the-art video coding standard H.264/SVC, aiming to produce scalable bitstreams with various frame rates. However, the exhaustive mode decision process with the hierarchical B-picture structure increases the computational complexity of H.264/SVC encoding dramatically. In this paper, a fast mode decision algorithm is proposed to speed up H.264/SVC encoding with the hierarchical B-picture structure, which is achieved by utilizing macroblock (MB) features, correlation of temporal–spatial neighboring MBs, and the discrepant characteristics of hierarchical layers. Extensive experimental results demonstrate that the proposed algorithm is able to reduce the encoding time of H.264/SVC significantly for video sequences with a wide range of resolutions, and meanwhile the video quality and compression ratio are well preserved.  相似文献   
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A micromachined reconfigurable metamaterial is presented, whose unit cell consists of a pair of asymmetric split‐ring resonators (ASRRs); one is fixed to the substrate while the other is patterned on a movable frame. The reconfigurable metamaterial and the supporting structures (e.g., microactuators, anchors, supporting frames, etc.) are fabricated on a silicon‐on‐insulator wafer using deep reactive‐ion etching (DRIE). By adjusting the distance between the two ASRRs, the strength of dipole–dipole coupling can be tuned continuously using the micromachined actuators and this enables tailoring of the electromagnetic response. The reconfiguration of unit cells endows the micromachined reconfigurable metamaterials with unique merits such as electromagnetic response under normal incidence and wide tuning of resonant frequency (measured as 31% and 22% for transverse electric polarization and transverse magnetic polarization, respectively). The reconfiguration could also allow switching between the polarization‐dependent and polarization‐independent states. With these features, the micromachined reconfigurable metamaterials may find potential applications in transformation optics devices, sensors, intelligent detectors, tunable frequency‐selective surfaces, and spectral filters.  相似文献   
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