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281.
Varambally S Dhanasekaran SM Zhou M Barrette TR Kumar-Sinha C Sanda MG Ghosh D Pienta KJ Sewalt RG Otte AP Rubin MA Chinnaiyan AM 《Nature》2002,419(6907):624-629
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Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy 总被引:14,自引:0,他引:14
Robitaille J MacDonald ML Kaykas A Sheldahl LC Zeisler J Dubé MP Zhang LH Singaraja RR Guernsey DL Zheng B Siebert LF Hoskin-Mott A Trese MT Pimstone SN Shastry BS Moon RT Hayden MR Goldberg YP Samuels ME 《Nature genetics》2002,32(2):326-330
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Loci associated with FEVR map to 11q13-q23 (EVR1; OMIM 133780, ref. 1), Xp11.4 (EVR2; OMIM 305390, ref. 2) and 11p13-12 (EVR3; OMIM 605750, ref. 3). Here we have confirmed linkage to the 11q13-23 locus for autosomal dominant FEVR in one large multigenerational family and refined the disease locus to a genomic region spanning 1.55 Mb. Mutations in FZD4, encoding the putative Wnt receptor frizzled-4, segregated completely with affected individuals in the family and were detected in affected individuals from an additional unrelated family, but not in normal controls. FZD genes encode Wnt receptors, which are implicated in development and carcinogenesis. Injection of wildtype and mutated FZD4 into Xenopus laevis embryos revealed that wildtype, but not mutant, frizzled-4 activated calcium/calmodulin-dependent protein kinase II (CAMKII) and protein kinase C (PKC), components of the Wnt/Ca(2+) signaling pathway. In one of the mutants, altered subcellular trafficking led to defective signaling. These findings support a function for frizzled-4 in retinal angiogenesis and establish the first association between a Wnt receptor and human disease. 相似文献
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Morrish TA Gilbert N Myers JS Vincent BJ Stamato TD Taccioli GE Batzer MA Moran JV 《Nature genetics》2002,31(2):159-165
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Discoveries of integumentary coverings on non-avian theropod dinosaurs are becoming commonplace. But the only definitive evidence so far that any of these animals had feathers as we know them today has come from the oviraptorosaur Caudipteryx and the enigmatic coleurosaur Protarchaeopteryx, both of which are considered by some to be secondarily flightless birds. Here we describe the occurrence of pinnate feathers, which clearly feature a rachis and barbs, on a small, non-avian dromaeosaur from northern China. This finding indicates that feathers of modern aspect evolved in dinosaurs before the emergence of birds and flight. 相似文献
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Molecular physiology: protecting the heart 总被引:1,自引:0,他引:1
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In spintronics, in which use is made of the spin degree of freedom of the electron, issues concerning electrical spin injection and detection of electron spin diffusion are fundamentally important. Jedema et al. describe a magneto-resistance study in which they claim to have observed spin accumulation in a mesoscopic copper wire, but their one-dimensional model ignores two-dimensional spin-diffusion effects, which casts doubt on their analysis. A two-dimensional vector formalism of spin transport is called for to model spin-injection experiments, and the identification of spurious background resistance effects is crucial. 相似文献
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Ordered porous materials for emerging applications 总被引:58,自引:0,他引:58
"Space--the final frontier." This preamble to a well-known television series captures the challenge encountered not only in space travel adventures, but also in the field of porous materials, which aims to control the size, shape and uniformity of the porous space and the atoms and molecules that define it. The past decade has seen significant advances in the ability to fabricate new porous solids with ordered structures from a wide range of different materials. This has resulted in materials with unusual properties and broadened their application range beyond the traditional use as catalysts and adsorbents. In fact, porous materials now seem set to contribute to developments in areas ranging from microelectronics to medical diagnosis. 相似文献
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