Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, Senior-L?ken syndrome (SLSN) or Joubert syndrome (JBTS). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1-like protein (RPGRIP1L) is a homolog of RPGRIP1 (RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis. We show that RPGRIP1L interacts with nephrocystin-4 and that mutations in the gene encoding nephrocystin-4 (NPHP4) that are known to cause SLSN disrupt this interaction. RPGRIP1L is ubiquitously expressed, and its protein product localizes to basal bodies. Therefore, we analyzed RPGRIP1L as a candidate gene for JBTS and identified loss-of-function mutations in three families with typical JBTS, including the characteristic mid-hindbrain malformation. This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder.     

Telomeres and meiosis in health and disease

Beyond their role in replication and chromosome end capping, telomeres are also thought to function in meiotic chromosome pairing, meiotic and mitotic chromosome segregation as well as in nuclear organization. Observations in both somatic and meiotic cells suggest that the positioning of telomeres within the nucleus is highly specific and believed to be dependent mainly on telomere interactions with the nuclear envelope either directly or through chromatin interacting proteins. Although little is known about the mechanism of telomere clustering, some studies show that it is an active process. Recent data have suggested a regulatory role for telomere chromatin structure in telomere movement. This review will summarize recent studies on telomere interactions with the nuclear matrix, telomere chromatin structure and factors that modify telomere chromatin structure as related to regulation of telomere movement.     

论社会主义与人的自由和全面发展

人的自由和全面发展是马克思一贯倡导并始终坚持的主导价值取向,是马克思主义学说的灵魂.中国共产党继承和发展了马克思主义关于人的自由和全面发展的思想,同时,立足于中国社会主义初级阶段的实际,积极创造条件,稳妥地推进人的自由和全面发展.     

果胶溶液粘度的研究

本文研究了浓度、温度、酸度、Ｃａ２＋、糖等因素对果胶溶液粘度的影响，在酸度为０．９ｇＨＣｌ／１０Ｏｍｌ下来胶容液的粘度最低、而Ｃａ２＋，糖在研究的范围内对果胶溶液粘度的影响不大。     

300 MN水压机垫板组力学行为规律研究

针对巨型水压机多层垫板组力学行为的多维非线性特征,本文应用作者开发的多体接触有限元程序,分析了300MN水压机垫板组力学行为规律,揭示了垫板组加载方式为几何空间状态与力学行为的相关性,说明了垫板组异常变形机制,提出了垫板组设计和使用的几点准则。     

冬虫夏草菌丝体对小鼠体液免疫的影响

本文采用血清溶血素测定新方法,对兰州三爱堂解放军第一医院人工发酵培养的冬虫夏草菌丝体进行实验分析。结果表明,对正常小鼠的体液免疫功能无影响,但对由环磷酰胺引起的体液免疫功能低下有明显的恢复,说明该菌丝体与天然虫草有一致的功能。     

青梅腌制新技术的探讨

本文探讨了在传统工艺的基础上对青梅腌制技术作出了新的改进,达到果品制成率高,合格率高,劳动生产率高,成本低的优点.     

双参数量子代数SUqs（1,1）的表示：正离散序列

本文通过构造双参数量子群ＳＵｑｓ（１，１）生成元的ｑｓ－Ｂｏｓｏｎ实现，给出了ＳＵｑｓ（１，１）的正离散序列表示。