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Amary MF Damato S Halai D Eskandarpour M Berisha F Bonar F McCarthy S Fantin VR Straley KS Lobo S Aston W Green CL Gale RE Tirabosco R Futreal A Campbell P Presneau N Flanagan AM 《Nature genetics》2011,43(12):1262-1265
Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. In 18 of 19 individuals with more than one tumor analyzed, all tumors from a given individual shared the same IDH1 mutation affecting Arg132. In 2 of 12 subjects, a low level of mutated DNA was identified in non-neoplastic tissue. The levels of the metabolite 2HG were measured in a series of central cartilaginous and vascular tumors, including samples from syndromic and nonsyndromic subjects, and these levels correlated strongly with the presence of IDH1 mutations. The findings are compatible with a model in which IDH1 or IDH2 mutations represent early post-zygotic occurrences in individuals with these syndromes. 相似文献
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Nigel Aston 《Studies in history and philosophy of science》2004,35(3):625-644
This paper represents a provisional attempt to chart the intellectual construction of Hutchinsonianism over approximately a quarter of a century from the mid-1720s through to the early 1750s. It looks at how Hutchinson’s works were received and fashioned by his first followers, the means they used to communicate their conviction to others, and the extent to which their outlook can be characterised as anti-Newtonian. The paper argues for a slow take up of ‘Hutchinsonian’ views before Spearman and Bate published a collected edition of the master’s works in 1748. This single edition gave Hutchinson’s writings a coherence and a unity they were ill-designed to carry, but it created Hutchinsonianism as an appreciable force in Oxford and elsewhere. The paper concludes that the anti-Newtonian rhetoric of the movement’s founder was increasingly muted in the hands of his followers (with the exception of Bate), and by the 1750s the main bone of contention was less attitudes to Newton than approaches to Hebrew scholarship. 相似文献
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碲锡铅(Pb1-xSnxTe)是一种禁带宽度可调的三元化合物半导体,用它不仅可制备814μm的高灵敏度的红外探测器,而且可以制备长波红外可调谐激光器. 相似文献
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