排序方式: 共有57条查询结果,搜索用时 15 毫秒
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Beales PL Bland E Tobin JL Bacchelli C Tuysuz B Hill J Rix S Pearson CG Kai M Hartley J Johnson C Irving M Elcioglu N Winey M Tada M Scambler PJ 《Nature genetics》2007,39(6):727-729
Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency; retinal degeneration, cystic renal disease and polydactyly may be complicating features. We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia. 相似文献
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Mukha I Roeckl E Batist L Blazhev A Döring J Grawe H Grigorenko L Huyse M Janas Z Kirchner R La Commara M Mazzocchi C Tabor SL Van Duppen P 《Nature》2006,439(7074):298-302
The stability and spontaneous decay of naturally occurring atomic nuclei have been much studied ever since Becquerel discovered natural radioactivity in 1896. In 1960, proton-rich nuclei with an odd or an even atomic number Z were predicted to decay through one- and two-proton radioactivity, respectively. The experimental observation of one-proton radioactivity was first reported in 1982, and two-proton radioactivity has now also been detected by experimentally studying the decay properties of 45Fe (refs 3, 4) and 54Zn (ref. 5). Here we report proton-proton correlations observed during the radioactive decay of a spinning long-lived state of the lightest known isotope of silver, 94Ag, which is known to undergo one-proton decay. We infer from these correlations that the long-lived state must also decay through simultaneous two-proton emission, making 94Ag the first nucleus to exhibit one- as well as two-proton radioactivity. We attribute the two-proton emission behaviour and the unexpectedly large probability for this decay mechanism to a very large deformation of the parent nucleus into a prolate (cigar-like) shape, which facilitates emission of protons either from the same or from opposite ends of the 'cigar'. 相似文献
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Tip60 is a haplo-insufficient tumour suppressor required for an oncogene-induced DNA damage response
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Behavioral economics is a field of study that is often thought of as interdisciplinary, insofar as it uses psychological insights to inform economic models. Yet the level of conceptual and methodological exchange between the two disciplines is disputed in the literature. On the one hand, behavioral economic models are often presented as psychologically informed models of individual decision-making (Camerer & Loewenstein, 2003). On the other hand, these models have often been criticized for being merely more elaborated “as if” economic models (Berg & Gigerenzer, 2010). The aim of this paper is to contribute to this debate by looking at a central topic in behavioral economics: the case of social preferences. Have findings or research methods been exchanged between psychology and economics in this research area? Have scientists with different backgrounds “travelled” across domains, thus transferring their expertise from one discipline to another? By addressing these and related questions, this paper will assess the level of knowledge transfer between psychology and economics in the study of social preferences. 相似文献
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