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Bond J Roberts E Springell K Lizarraga SB Lizarraga S Scott S Higgins J Hampshire DJ Morrison EE Leal GF Silva EO Costa SM Baralle D Raponi M Karbani G Rashid Y Jafri H Bennett C Corry P Walsh CA Woods CG 《Nature genetics》2005,37(4):353-355
Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial expression of the genes during prenatal neurogenesis and protein localization to the spindle poles of mitotic cells, suggesting that a centrosomal mechanism controls neuron number in the developing mammalian brain. 相似文献
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丰海英 《科技情报开发与经济》2004,14(6):110-111
介绍了政府经济职能的内涵、发达市场经济国家政府经济职能的定位和我国政府经济职能的科学定位,提出了我国经济发展面临的新问题。 相似文献
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A new type of mutation causes a splicing defect in ATM 总被引:19,自引:0,他引:19
Disease-causing splicing mutations described in the literature primarily produce changes in splice sites and, to a lesser extent, variations in exon-regulatory sequences such as the enhancer elements. The gene ATM is mutated in individuals with ataxia-telangiectasia; we have identified the aberrant inclusion of a cryptic exon of 65 bp in one affected individual with a deletion of four nucleotides (GTAA) in intron 20. The deletion is located 12 bp downstream and 53 bp upstream from the 5' and 3' ends of the cryptic exon, respectively. Through analysis of the splicing defect using a hybrid minigene system, we identified a new intron-splicing processing element (ISPE) complementary to U1 snRNA, the RNA component of the U1 small nuclear ribonucleoprotein (snRNP). This element mediates accurate intron processing and interacts specifically with U1 snRNP particles. The 4-nt deletion completely abolished this interaction, causing activation of the cryptic exon. On the basis of this analysis, we describe a new type of U1 snRNP binding site in an intron that is essential for accurate intron removal. Deletion of this sequence is directly involved in the splicing processing defect. 相似文献
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F. Baralle N. Schvarzberg M. Vernengo J. Comin 《Cellular and molecular life sciences : CMLS》1972,28(8):875-876
Zusammenfassung Zwei neue Alkaloide des Aporphintypus, Dehydroocotein (III) und Didehydroocotein (IV), wurden ausOcotea puberula (Nees et Mart.) Nees isoliert, und ihre Strukturen aufgeklärt. 相似文献
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网络环境下的用户信息需求与高校图书馆信息服务 总被引:4,自引:4,他引:4
冯维民 《科技情报开发与经济》2004,14(6):34-35
随着计算机技术、通信技术、网络技术的应用,图书馆服务模式发生了巨大变化。在分析传统信息服务模式的基础上,针对高校图书馆用户的信息需求,提出了网络环境下信息服务的新思路。 相似文献
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对影响水轮机组空气间隙的因素及其精度进行了分析,提出合理的质量标准,探讨了厂房倾斜等因素对空气间隙的影响及其测量调整方法,以确保空气间隙均匀合格。 相似文献
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