The dose reduction factor produced by topically applied dimethyl sulfoxide

Zusammenfassung Die früheren positiven Strahlenschutzmittel-Versuche mit äusserlich angewandtem Dimethyl-sulfoxid wurden mit verschieden grossen Strahlendosen erweitert, um den Strahlendosisreduktionsfaktor genauer zu ermitteln. Es zeigte sich, dass dieser Faktor einer Grösse von 1.35 entspricht.     

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

The low-density lipoprotein receptor (LDLR) prevents hypercholesterolemia and atherosclerosis by removing low-density lipoprotein (LDL) from circulation. Mutations in the genes encoding either LDLR or its ligand (APOB) cause severe hypercholesterolemia. Missense mutations in PCSK9, encoding a serine protease in the secretory pathway, also cause hypercholesterolemia. These mutations are probably gain-of-function mutations, as overexpression of PCSK9 in the liver of mice produces hypercholesterolemia by reducing LDLR number. To test whether loss-of-function mutations in PCSK9 have the opposite effect, we sequenced the coding region of PCSK9 in 128 subjects (50% African American) with low plasma levels of LDL and found two nonsense mutations (Y142X and C679X). These mutations were common in African Americans (combined frequency, 2%) but rare in European Americans (<0.1%) and were associated with a 40% reduction in plasma levels of LDL cholesterol. These data indicate that common sequence variations have large effects on plasma cholesterol levels in selected populations.     

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal gains and losses. In five families with mosaic variegated aneuploidy, including two with embryonal rhabdomyosarcoma, we identified truncating and missense mutations of BUB1B, which encodes BUBR1, a key protein in the mitotic spindle checkpoint. These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development.     

Functionality of the TRPV subfamily of TRP ion channels: add mechano-TRP and osmo-TRP to the lexicon!

Transient receptor potential (TRP) ion channels have been identified as cellular sensors responding to diverse external and internal stimuli. This review will cover the TRPV subfamily that comprises vertebrate and invertebrate members. The six mammalian TRPV channels were demonstrated to function in thermosensation, mechanosensation, osmosensation and Ca²⁺ uptake. Invertebrate TRPV channels, five in Caenorhabditis elegans and two in Drosophila, have been shown to play a role in mechanosensation, such as hearing and proprioception in Drosophila and nose touch in C. elegans, and in the response to osmotic and chemical stimuli in C. elegans. We will focus here on the role that TRPV ion channels play in mechanosensation and a related sensory (sub-)modality, osmosensation. Received 2 May 2005; received after revision 30 July 2005; accepted 30 August 2005     

支持QoS的光突发交换网络偏射路由算法

指出了光突发交换(OBS)网络的一个关键问题是如何解决资源冲突,偏射路由是光网络中的冲突解决机制之一.提出了OBS网络非循环偏射路由算法(ADR),此算法基于各网络节点的路径度来确定路由中的偏射路径,支持突发数据的有序传输,将偏射路径的流量分布到具有低路径度的中间节点.利用此算法实现了区别服务以支持QoS,并通过仿真分析了其在优化OBS网络中的性能.     

Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin

Parkinson's disease is the second most common neurodegenerative disorder and is characterized by the degeneration of dopaminergic neurons in the substantia nigra. Mitochondrial dysfunction has been implicated as an important trigger for Parkinson's disease-like pathogenesis because exposure to environmental mitochondrial toxins leads to Parkinson's disease-like pathology. Recently, multiple genes mediating familial forms of Parkinson's disease have been identified, including PTEN-induced kinase 1 (PINK1; PARK6) and parkin (PARK2), which are also associated with sporadic forms of Parkinson's disease. PINK1 encodes a putative serine/threonine kinase with a mitochondrial targeting sequence. So far, no in vivo studies have been reported for pink1 in any model system. Here we show that removal of Drosophila PINK1 homologue (CG4523; hereafter called pink1) function results in male sterility, apoptotic muscle degeneration, defects in mitochondrial morphology and increased sensitivity to multiple stresses including oxidative stress. Pink1 localizes to mitochondria, and mitochondrial cristae are fragmented in pink1 mutants. Expression of human PINK1 in the Drosophila testes restores male fertility and normal mitochondrial morphology in a portion of pink1 mutants, demonstrating functional conservation between human and Drosophila Pink1. Loss of Drosophila parkin shows phenotypes similar to loss of pink1 function. Notably, overexpression of parkin rescues the male sterility and mitochondrial morphology defects of pink1 mutants, whereas double mutants removing both pink1 and parkin function show muscle phenotypes identical to those observed in either mutant alone. These observations suggest that pink1 and parkin function, at least in part, in the same pathway, with pink1 functioning upstream of parkin. The role of the pink1-parkin pathway in regulating mitochondrial function underscores the importance of mitochondrial dysfunction as a central mechanism of Parkinson's disease pathogenesis.     

中国甘肃一例前足迹主导的翼龙足迹组合:对行为学的影响（英文）

翼龙是已知的、最早飞上天际的脊椎动物,目前已经发现了成千上万件化石,代表着这一大家族从晚三叠世到晚白垩世在全球范围内的蓬勃发展史.自2004年甘肃盐锅峡地区首次报道翼龙足迹以来,中国陆续发现了一批翼龙足迹化石,绝大多数的足迹点都保存了翼龙的前后足迹.2013年,我们在盐锅峡地区发现了至少20个翼龙前足迹的凸型足迹,而没有发现任何后足迹,这些足迹可归于一个单独翼龙遗迹属——Pteraichnus.这是中国第一次发现由前足迹主导的翼龙足迹组合,这可能反映了翼龙前后足迹在同等保存条件下的不同深度.更重要的是,盐锅峡的这批翼龙足迹与当地发现的大量虫迹相关,一些足迹甚至就保存在虫迹面上,这些虫迹包括Cochlichnus,Spongeliomorpha和Paleophycus,因此推断这批翼龙造迹者很可能以这些无脊椎动物造迹者为食.