Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.     

Der Modellversuch am Tier in seiner Bedeutung für das Verständnis menschlicher Erbleiden

Summary The mutation of homologous genes can produce the same changes in phenotype in different mammals, animals as well as human beings. In this way the same hereditary disease can arise in man and animal. This fact permits the study of human hereditary diseases in model experiments in animals under conditions impossible to be realized in man. How far the parallelism between human beings and animals can be taken and where the limits of this parallelism are, which are the problems of the comparative heredo-pathology in detail, and how these problems may be attacked, is demonstrated here in numerous examples.

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Nach einem Vortrag in der Nederlandse Anthropogenetische Vereniging in Utrecht am 28. November 1953.     

When Research and Practice Collide: The Role of Action Research When There Is a Conflict of Interest with Stakeholders

This article discusses problematic aspects of the role of the action researcher when working with multiple stakeholders on a complex research project concerning regional development. The case presented here deals with the improvement of the regional innovation system in a small region in the south of Norway. The project resulted in a conflict between stakeholders and the action research (AR) team. We claim that when working in a regional context, the role of the action researcher is set to be a collaborator in a context of power play; the ultimate stakeholders must be defined as the citizens in that region. Therefore, in some situations the action researcher must have a legitimatised right to abandon collaboration and present a critical voice in the public deliberation. Strategic power play and strategic action by stakeholders represent a clear threat to the soft approach of collaboration, reflectivity, and democratic dialogue that AR represents. The ultimate challenge and obligation of the action researcher is to improve democracy in society in a long-term perspective through representing a critical capacity in the public deliberation.     

Efficient delivery of siRNA for inhibition of gene expression in postnatal mice

It has recently been shown that RNA interference can be induced in cultured mammalian cells by delivery of short interfering RNAs (siRNAs). Here we describe a method for efficient in vivo delivery of siRNAs to organs of postnatal mice and demonstrate effective and specific inhibition of transgene expression in a variety of organs.     

脑肿瘤细胞的分子标记

在过去的20年，科研工作者已经在分子肿瘤领域取得了划时代的重大发现，这很大程度上归功于免疫组织化学方法的应用。这一方法在脑肿瘤研究中也已经从试验阶段走向了成熟。     

CO2通过安全阀排放流动分析

基于压降经验关联式,对CO2通过安全阀排放流动进行理论研究,分析安全阀的工况和管道结构参数对固体CO2形成的影响.结果表明:当安全阀进出口管径与孔径比为1.1～2.0,安全阀阀杆总上升高度与孔径比为0.1～0.4,下游管径与孔径比为4,下游管长与孔径比为1000时,固体CO2会在安全阀内形成;当安全阀开度大于70%且进出口管径与孔径比小于1.4,或安全阀上游进口压力高于12 MPa时,固体CO2会在下游管路中形成.