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1.
This comment is analysing the last section of a paper by Piotr Blaszczyk, Mikhail G. Katz, and David Sherry on alleged misconceptions committed by historians of mathematics regarding the history of analysis, published in this journal in the first issue of 2013. Since this section abounds of wrong attributions and denouncing statements regarding my research and a key publication, the comment serves to rectify them and to recall some minimal methodological requirements for historical research.  相似文献   
2.
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP)) channel that couples the metabolic state of a cell with its electrical activity. All mutations altered amino acids in or close to the transmembrane domains of ABCC9. Using electrophysiological measurements, we show that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening. Moreover, similarities between the phenotype of individuals with Cantú syndrome and side effects from the K(ATP) channel agonist minoxidil indicate that the mutations in ABCC9 result in channel opening. Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome.  相似文献   
3.
Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected individuals presented with early-onset osteoarthritis. We mapped the genetic locus to chromosome 15q22.2-24.2 and show that the disease is caused by mutations in SMAD3. This gene encodes a member of the TGF-β pathway that is essential for TGF-β signal transmission. SMAD3 mutations lead to increased aortic expression of several key players in the TGF-β pathway, including SMAD3. Molecular diagnosis will allow early and reliable identification of cases and relatives at risk for major cardiovascular complications. Our findings endorse the TGF-β pathway as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis.  相似文献   
4.
Striated muscles are present in bilaterian animals (for example, vertebrates, insects and annelids) and some non-bilaterian eumetazoans (that is, cnidarians and ctenophores). The considerable ultrastructural similarity of striated muscles between these animal groups is thought to reflect a common evolutionary origin. Here we show that a muscle protein core set, including a type II myosin heavy chain (MyHC) motor protein characteristic of striated muscles in vertebrates, was already present in unicellular organisms before the origin of multicellular animals. Furthermore, 'striated muscle' and 'non-muscle' myhc orthologues are expressed differentially in two sponges, compatible with a functional diversification before the origin of true muscles and the subsequent use of striated muscle MyHC in fast-contracting smooth and striated muscle. Cnidarians and ctenophores possess striated muscle myhc orthologues but lack crucial components of bilaterian striated muscles, such as genes that code for titin and the troponin complex, suggesting the convergent evolution of striated muscles. Consistently, jellyfish orthologues of a shared set of bilaterian Z-disc proteins are not associated with striated muscles, but are instead expressed elsewhere or ubiquitously. The independent evolution of eumetazoan striated muscles through the addition of new proteins to a pre-existing, ancestral contractile apparatus may serve as a model for the evolution of complex animal cell types.  相似文献   
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6.
The chemical composition of the Bannock basin has been studied in some detail. We recently showed that unusual microbial populations, including a new division of Archaea (MSBL1), inhabit the NaCl-rich hypersaline brine. High salinities tend to reduce biodiversity, but when brines come into contact with fresher water the natural haloclines formed frequently contain gradients of other chemicals, including permutations of electron donors and acceptors, that may enhance microbial diversity, activity and biogeochemical cycling. Here we report a 2.5-m-thick chemocline with a steep NaCl gradient at 3.3 km within the water column betweeen Bannock anoxic hypersaline brine and overlying sea water. The chemocline supports some of the most biomass-rich and active microbial communities in the deep sea, dominated by Bacteria rather than Archaea, and including four major new divisions of Bacteria. Significantly higher metabolic activities were measured in the chemocline than in the overlying sea water and underlying brine; functional analyses indicate that a range of biological processes is likely to occur in the chemocline. Many prokaryotic taxa, including the phylogenetically new groups, were confined to defined salinities, and collectively formed a diverse, sharply stratified, deep-sea ecosystem with sufficient biomass to potentially contribute to organic geological deposits.  相似文献   
7.
Van Tonder GJ  Lyons MJ  Ejima Y 《Nature》2002,419(6905):359-360
The dry landscape garden at Ryoanji Temple in Kyoto, Japan, a UNESCO world heritage site, intrigues hundreds of thousands of visitors every year with its abstract, sparse and seemingly random composition of rocks and moss on an otherwise empty rectangle of raked gravel. Here we apply a model of shape analysis in early visual processing to show that the 'empty' space of the garden is implicitly structured and critically aligned with the temple's architecture. We propose that this invisible design creates the visual appeal of the garden and was probably intended as an inherent feature of the composition.  相似文献   
8.
In their respective commentaries to my article “Postphenomenology and the Politics of Sustainable Technology” both Robert Scharff and Michel Puech take issue with my postphenomenological inroad into the politics of technology. In a first step I try to accommodate the suggestions and objections raised by Scharff by making my account of the political more explicit. Consequently, I argue how an antagonistic relational conceptualisation of the political allows me to address head on Puech’s plea to leave politics behind and move towards an ethically informed, post-political approach to sustainability. “But perhaps the question philosophy is confronted with—through the question of the political—might be whether not all reasoning, including a purely theoretical reasoning, can truly only be a political reasoning, resulting in an inevitable, indeed necessary circular structure” (Boehm 2002; author’s translation). In a footnote to my original article ‘Postphenomenology and the Politics of Sustainable Technology’, I wrote that “for the purpose of this paper, it suffices to say that I use the adjective ‘political’ to indicate all aspects of human and non-human agency that are related to ‘shaping the good life’ (Goeminne 2011a).” With hindsight, brought about by the commentaries of Scharff (2011) and Puech (2011), I now see that I could not have been more optimistic. Or should I say naïve? Indeed, although coming from different angles and resulting in very different suggestions, both commentaries precisely target my postphenomenological inroad into the ‘politics’ of technology. In challenging my grounding of the politics of technology in a postphenomenological perspective, Scharff in particular invites me to make my notion of the political more explicit. In what follows, I will therefore first elaborate my take on the political dimension of technology in dialogue with Scharff’s comments and suggestions. Armed with this deepened concept of the political, I will then address Puech’s plea to leave politics behind and move towards an ethically informed, post-political approach to sustainability. Evidently, within the limits of this piece, I can only indicate the broader direction my conceptualisation of the political takes. It suffices perhaps to say that, partly induced by the commentaries of Scharff and Puech, the question of the political has meanwhile taken a much more prominent place in my research as can be seen from a few recent publications [e.g. Goeminne (2012) and Goeminne (forthcoming)]. In saying this, I am also expressing my indebtedness to the commentators for nudging me in this political direction.  相似文献   
9.
大多数关于气候变化对水文过程影响评估的文献中,对大气模型中存在的显著的不确定性往往考虑不足.在很多重要的领域,GCM生成的长期预测很少能用于未来水资源规划与管理,因为其结果无法对变化趋势进行准确的描述,也就是对水文变量增加或减少趋势的预测缺乏可信度.一项借助于14个GCM模型以及不同发展情景(包括基准情景)开展的径流预报集合分析研究验证了这一点.GCM的输出情景作为水平衡模型的输入这种方法用于多瑙河上游未来水文变化的预测.如果将这种预测情景用于预测由气候变化引起的水文变化经济成本,更大的不确定性将会在经济数学模型中产生.著名的Stern"气候变化经济学"评论在水资源管理领域被广泛的应用.在经济学文献中对Stern评论的观点存在很多争议,很多专家对方法的使用和结论提出了一些质疑,本文的实例也证明了这一点.因此,进行气候变化对水文和水资源影响评估的学者们应该意识到不仅在GCM中存在很大的不确定性,大气-水文-经济模型的耦合过程可能会导致更大的不确定性.  相似文献   
10.
DNA aneuploidy has been identified as a prognostic factor in the majority of epithelial malignancies. We aimed at identifying ploidy-associated protein expression in endometrial cancer of different prognostic subgroups. Comparison of gel electrophoresis-based protein expression patterns between normal endometrium (n?=?5), diploid (n?=?7), and aneuploid (n?=?7) endometrial carcinoma detected 121 ploidy-associated protein forms, 42 differentially expressed between normal endometrium and diploid endometrioid carcinomas, 37 between diploid and aneuploid endometrioid carcinomas, and 41 between diploid endometrioid and aneuploid uterine papillary serous cancer. Proteins were identified by mass spectrometry and evaluated by Ingenuity Pathway Analysis. Targets were confirmed by liquid chromatography/mass spectrometry. Mass spectrometry identified 41 distinct polypeptides and pathway analysis resulted in high-ranked networks with vimentin and Nf-κB as central nodes. These results identify ploidy-associated protein expression differences that overrule histopathology-associated expression differences and emphasize particular protein networks in genomic stability of endometrial cancer.  相似文献   
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