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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes 总被引:3,自引:0,他引:3
Kantarci S Al-Gazali L Hill RS Donnai D Black GC Bieth E Chassaing N Lacombe D Devriendt K Teebi A Loscertales M Robson C Liu T MacLaughlin DT Noonan KM Russell MK Walsh CA Donahoe PK Pober BR 《Nature genetics》2007,39(8):957-959
Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets. 相似文献
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Hunt KA Smyth DJ Balschun T Ban M Mistry V Ahmad T Anand V Barrett JC Bhaw-Rosun L Bockett NA Brand OJ Brouwer E Concannon P Cooper JD Dias KR van Diemen CC Dubois PC Edkins S Fölster-Holst R Fransen K Glass DN Heap GA Hofmann S Huizinga TW Hunt S Langford C Lee J Mansfield J Marrosu MG Mathew CG Mein CA Müller-Quernheim J Nutland S Onengut-Gumuscu S Ouwehand W Pearce K Prescott NJ Posthumus MD Potter S Rosati G Sambrook J Satsangi J Schreiber S Shtir C Simmonds MJ Sudman M Thompson SD Toes R 《Nature genetics》2012,44(1):3-5
24.
利用CESM(Community Earth System Model)框架最新发布的陆面模式CLM4.5模拟得到中国区域1991~2010年7月份0~10 cm的土壤湿度数据集;并以中国农作物生长发育和农田土壤湿度旬值数据集的土壤湿度作为实测值,与模拟结果进行了比较分析。结果表明CLM4.5能够揭示中国区域7月份0~10 cm土壤湿度的空间分布特征,与实测数据土壤湿度的年际变化趋势保持着较好的一致性。利用曼-肯德尔法进行突变现象检测表明,模拟和实测得到的二十年的土壤湿度在华北、东北地区有逐年减小的趋势,尤其是东北地区土壤变干现象尤为明显;而华东、华中地区的土壤湿度以2~3年为周期增减,并没有一个持续稳定的变化趋势。CLM4.5模拟的土壤湿度值普遍偏高,最大偏差超过0.1 mm3·mm-3,这可能与模式的参数化方案有关,在以今后的研究中有待进一步探索。 相似文献
25.
Ahmad A. Moreb 《系统科学与系统工程学报(英文版)》2007,16(4):499-506
Reliability allocation problem is commonly treated using a closed-form expression relating the cost to reliability. A recent approach has introduced the use of discrete integer technique for un-repairable systems. This research addresses the allocation problem for repairable systems. It presents an integer formulation for finding the optimum selection of components based on the integer values of their Mean Time to Failure (MTTF) and Mean Time to Repair (MTTR). The objective is to minimize the total cost under a system reliability constraint, in addition to other physical constraints. Although, a closed-form expression relating the cost to reliability may not be a linear; however, in this research, the objective function will always be linear regardless of the shape of the equivalent continuous closed-form function. An example is solved using the proposed method and compared with the solution of the continuous closed-form version. The formulation for all possible system configurations, components and subsystems are also considered. 相似文献
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Saxena P. N. Ahmad M. R. Shyam R. Amla D. V. 《Cellular and molecular life sciences : CMLS》1983,39(10):1077-1083
Cellular and Molecular Life Sciences - A method for cultivatingSpirulina platensis in domestic raw sewage, coupled with pisciculture and water reclamation in an integrated recycling system, has... 相似文献
29.
A kinetic approach to evaluate salinity effects on carbon mineralization in a plant residue-amended soil 下载免费PDF全文
The interaction of salinity stress and plant residue quality on C mineralization kinetics in soil is not well understood. A laboratory experiment was conducted to study the effects of salinity stress on C mineralization kinetics in a soil amended with alfalfa, wheat and corn residues. A factorial combination of two salinity levels (0.97 and 18.2 dS/m) and four levels of plant residues (control, alfalfa, wheat and corn) with three replications was performed. A first order kinetic model was used to describe the C mineralization and to calculate the potentially mineralizable C. The CO2-C evolved under non-saline condition, ranged from 814.6 to 4842.4 mg CO2-C/kg in control and alfalfa residue-amended soils, respectively. Salinization reduced the rates of CO2 evolution by 18.7%, 6.2% and 5.2% in alfalfa, wheat and corn residue-amended soils, respectively. Potentially mineralizable C (C 0) was reduced significantly in salinized alfalfa residue-treated soils whereas, no significant difference was observed for control treatments as well as wheat and corn residue-treated soils. We concluded that the response pattern of C mineralization to salinity stress depended on the plant residue quality and duration of incubation. 相似文献
30.
P. N. Saxena M. R. Ahmad R. Shyam P. S. Misra 《Cellular and molecular life sciences : CMLS》1982,38(12):1438-1438
Summary
Spirulina platensis has been grown in an outdoor pilot production unit, with an exposed surface area of 450 m2, on a medium consisting of raw domestic sewage supplemented with sodium bicarbonate and nitrate or urea fertilizer. The chemical composition and yield of the biomass grown on sewage-nitrate was comparable to that grown on synthetic medium. The protein content was much lower in the alga cultivated in sewage-urea medium.NBRI Research Publication No. 143 (NS). 相似文献