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.     

高校图书馆开展专家服务工作的尝试

论述了高校图书馆开展专家服务工作的必要性及作用,结合实际阐述了开展专家服务工作的具体方式与措施。     

浅析不作为犯罪的行为性和作为义务来源

行为是刑法的基础,作为与不作为是犯罪的两种基本形式,不作为的特殊性以及作为义务的主要来源的确定,是认定不作为行为罪与非罪的关键,本文拟就这两个问题作一探讨。     

Women''''s Vocabulary——Different Languages for Different Sexes

Sex differences are a fundamental fact of human life and it is not surprising to find them reflected in language.It's said that women tend to use more standard forms of English,while men tend to use less standard forms of English.Over the past thirty years,and as a result of the women's movement,gender issues have become entangled with issues of language.Recent research indicates that sex may be more fundamental as an influence on sociolinguistic variation than has been recognized so far.This article will try to discuss the different language use between men and women.     

常曲率空间中具有平行平均曲率向量子流形的不等式

设Mn是等距浸入在常曲率黎曼流形Nn p(c)中的n维紧致子流形,若Mn是极小的,有著名的Simons不等式.李安民等人改进了此不等式,现在进一步把它推广到常曲率黎曼流形的具有平行平均曲率的子流形的情形.     

鸡公山自然保护区药用,食用大型真菌资源调查

本文报导了鸡公山自然保护区药用、食用大型真菌资源，其中药用１５种，食用２３种，药用兼食用２５种，并对如何开发利用这些资源提出了合理建议。     

等截面垂直管道中气粉流的临界管长

考虑重力和摩擦力的影响，建立了描述垂直管道中气粉流行为的数学模型，采用马赫数检验法，确定了产生摩擦壅塞时的临界管长，计算表明，当气粉流以不同方式喷入相同的冶金熔池时，底吹垂直管道比顶吹垂直管道需要更大的临界管长。     

多缩乙二醇双对甲苯磺酸酯的新合成法

本文报道了一种合成多缩乙二醇双对甲苯磺酸酯的新方法。该法收率明显提高,并能得到品状的三缩四乙二醇双对甲苯磺酸酯(文献为油状物)。     

砖混结构旧房屋加层地基承载力的计算及分析

对砖混结构旧房屋要求设计加层的地基承载力问题进行分析。针对此种加层工程地基经长期压密，承载力提高的特点，提出了该地基承载力提高值的计算公式，并指出应注意的问题。该方法安全可靠，经济效益显著。     

中性磷萃淋树脂吸附铼的性能和机理研究ⅢCL－P＿（350）－KReO＿4－HNO＿3体系

本文报道四甲基膦酸二甲庚酸萃淋树脂（ＣＬ－Ｐ＿（３５０）从硝酸溶液中吸附鳞的性能和机理研究。实验结果表明，吸附平衡服从Ｌａｎｇｍｕｉｒ经验等温式。测得吸附物分子中Ｐ（３５０）与Ｒｅ（Ⅶ）的摩尔比为２：１。Ｒｅ（Ⅶ）是以形式被树脂吸附，其吸附机理属于综合反应：并测定了吸附过程的热力学函数。