基于动态查询和报表创建的海南锆钛砂矿系统

阐述了海南岛近岸浅海锆钛砂矿数据库系统的设计与实现过程,提出了一种动态查询的方法和一种动态报表的创建方法,并在系统中给以实现.结果表明:该方法具有较高的可行性,能更好的满足用户需求.     

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.     

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis summary data from the GIANT Consortium for height and body mass index (BMI), with the LD structure estimated from genotype data in two independent cohorts. We identified 36 loci with multiple associated variants for height (38 leading and 49 additional SNPs, 87 in total) via a genome-wide SNP selection procedure. The 49 new SNPs explain approximately 1.3% of variance, nearly doubling the heritability explained at the 36 loci. We did not find any locus showing multiple associated SNPs for BMI. The method we present is computationally fast and is also applicable to case-control data, which we demonstrate in an example from meta-analysis of type 2 diabetes by the DIAGRAM Consortium.     

2013-18 封面图片说明:便携式或可移植的生物人工肾透析膜材料——TiO2纳米管阵列生物透析膜

 近年来,肾脏疾病的发病率及死亡率在全球呈现出快速增长的趋势.肾脏移植因供体器官太少而极大受限.事实上,传统的血液透析至今仍是一种成功的维持性替代治疗方式.但常规血透治疗需要患者频繁进入专门医院接受费用高昂的治疗,既冗长又痛苦的过程使患者不堪重负,严重影响了患者的正常生活,发病率和死亡率依旧很高.发展微型化、可携带或可移植的生物人工肾已成为未来的发展方向.此外,现今透析技术仍局限于体外肾小球滤过功能的替代,体外对肾小管生理功能的替代仍是空白.已有报道认为目前透析病人并发症的出现及高死亡率与忽视肾小管生理功能的替代直接相关.基于此,1999年美国Humes等提出利用细胞组织工程构建生物人工肾小管辅助装置（RAD）的思想并进行体外实验,初步确定其具有肾小管的部分生理功能.但RAD的引入需要将血液滤过装置和RAD组成复杂的串联回路,结构较复杂,不利于生物人工肾的“微缩化”和体内移植.因此,探索结构小巧、适合携带或移植条件且同时具有肾小球和肾小管复合功能的新型生物人工肾仍是今后发展的主要任务.     

2013-10 封面图片说明——基于空间天气模型的定量化预报系统

 空间天气指瞬时或短时间内太阳表面、太阳风、磁层、电离层和热层的状态,涉及从地球表面几十千米到太阳表面的广阔区域.空间天气模型建立在大量空间探测数据的基础上,是对各种参数在空间分布的定量化描述.随着研究工作的不断深入,空间天气模型已由单一应用发展到集成应用的阶段.如何将物理类型、运行条件不同的单一模型集合为一个有机整体,建立基于空间天气模型的定量化预报系统,加强模型间的联系,提高模型预报的应用水平,是当前空间天气预报研究的重要课题.     

2013-11 封面图片说明——利用网络思维研究打击恐怖组织问题的新成果

 恐怖主义是威胁当代国际安全、困扰社会稳定的毒瘤,反恐怖斗争是当前世界面临的共同任务之一.反恐战争中,分析恐怖组织的网络结构特点,理解其网络编制法则、规律,对预防、控制、消除与打击恐怖主义具有重要的作用.