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排序方式: 共有3198条查询结果,搜索用时 156 毫秒
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Lohi H Young EJ Fitzmaurice SN Rusbridge C Chan EM Vervoort M Turnbull J Zhao XC Ianzano L Paterson AD Sutter NB Ostrander EA André C Shelton GD Ackerley CA Scherer SW Minassian BA 《Science (New York, N.Y.)》2005,307(5706):81
Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy. Tracing the repeat origins revealed two successive events, starting 50 million years ago, unique to canid evolution. A genetic test, presented here, will allow carrier and presymptomatic diagnosis and disease eradication. Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy. 相似文献
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Pocivavsek L Dellsy R Kern A Johnson S Lin B Lee KY Cerda E 《Science (New York, N.Y.)》2008,320(5878):912-916
Thin elastic membranes supported on a much softer elastic solid or a fluid deviate from their flat geometries upon compression. We demonstrate that periodic wrinkling is only one possible solution for such strained membranes. Folds, which involve highly localized curvature, appear whenever the membrane is compressed beyond a third of its initial wrinkle wavelength. Eventually the surface transforms into a symmetry-broken state with flat regions of membrane coexisting with locally folded points, reminiscent of a crumpled, unsupported membrane. We provide general scaling laws for the wrinkled and folded states and proved the transition with numerical and experimental supported membranes. Our work provides insight into the interfacial stability of such diverse systems as biological membranes such as lung surfactant and nanoparticle thin films. 相似文献
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Whipple A 《Science (New York, N.Y.)》2008,320(5877):745-746
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Chemically cross-linked polymers are inherently limited by stresses that are introduced by post-gelation volume changes during polymerization. It is also difficult to change a cross-linked polymer's shape without a corresponding loss of material properties or substantial stress development. We demonstrate a cross-linked polymer that, upon exposure to light, exhibits stress and/or strain relaxation without any concomitant change in material properties. This result is achieved by introducing radicals via photocleavage of residual photoinitiator in the polymer matrix, which then diffuse via addition-fragmentation chain transfer of midchain functional groups. These processes lead to photoinduced plasticity, actuation, and equilibrium shape changes without residual stress. Such polymeric materials are critical to the development of microdevices, biomaterials, and polymeric coatings. 相似文献
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