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121.
Charles B. Schmitt 《Annals of science》2013,70(6):543-559
John Case (d. 1600), the most important English Aristotelian of the Renaissance period, has not yet received the attention he deserves. In his Lapis philosophicus (Oxford, 1599), an exposition of Aristotle's Physics, is found a discussion of the relation of nature to art which parallels in many ways that formulated a few years later in the writings of Francis Bacon. Case argues, in a way more reminiscent of the works of Giambattista della Porta than of those of Aristotle, that the natural philosopher can legitimately apply the productive arts in helping nature to fulfill her function. Moreover, while rejecting the excessive claims of the Paracelsians, Case does accept the transmutational claims of the alchemists. In the final analysis, his ‘Aristotelianism’ has been tempered by the tradition of Renaissance natural magic. Like many other Peripatetic thinkers of the period, Case shows himself to be an eclectic, drawing materials from a wide variety of sources and open to many of the new scientific tendencies then developing. 相似文献
122.
Cotton RG; Human Variome Project Appelbe W Auerbach AD Becker K Bodmer W Boone DJ Boulyjenkov V Brahmachari S Brody L Brookes A Brown AF Byers P Cantu JM Cassiman JJ Claustres M Concannon P Cotton RG den Dunnen JT Flicek P Gibbs R Hall J Hasler J Katz M Kwok PY Laradi S Lindblom A Maglott D Marsh S Masimirembwa CM Minoshima S de Ramirez AM Pagon R Ramesar R Ravine D Richards S Rimoin D Ring HZ Scriver CR Sherry S Shimizu N Stein L Tadmouri GO Taylor G Watson M 《Nature genetics》2007,39(4):433-436
Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization-cosponsored meeting on June 20-23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the project, the meeting and its recommendations. 相似文献
123.
Carninci P Sandelin A Lenhard B Katayama S Shimokawa K Ponjavic J Semple CA Taylor MS Engström PG Frith MC Forrest AR Alkema WB Tan SL Plessy C Kodzius R Ravasi T Kasukawa T Fukuda S Kanamori-Katayama M Kitazume Y Kawaji H Kai C Nakamura M Konno H Nakano K Mottagui-Tabar S Arner P Chesi A Gustincich S Persichetti F Suzuki H Grimmond SM Wells CA Orlando V Wahlestedt C Liu ET Harbers M Kawai J Bajic VB Hume DA Hayashizaki Y 《Nature genetics》2006,38(6):626-635
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Hunt KA Smyth DJ Balschun T Ban M Mistry V Ahmad T Anand V Barrett JC Bhaw-Rosun L Bockett NA Brand OJ Brouwer E Concannon P Cooper JD Dias KR van Diemen CC Dubois PC Edkins S Fölster-Holst R Fransen K Glass DN Heap GA Hofmann S Huizinga TW Hunt S Langford C Lee J Mansfield J Marrosu MG Mathew CG Mein CA Müller-Quernheim J Nutland S Onengut-Gumuscu S Ouwehand W Pearce K Prescott NJ Posthumus MD Potter S Rosati G Sambrook J Satsangi J Schreiber S Shtir C Simmonds MJ Sudman M Thompson SD Toes R 《Nature genetics》2012,44(1):3-5
126.
Szappanos B Kovács K Szamecz B Honti F Costanzo M Baryshnikova A Gelius-Dietrich G Lercher MJ Jelasity M Myers CL Andrews BJ Boone C Oliver SG Pál C Papp B 《Nature genetics》2011,43(7):656-662
Although experimental and theoretical efforts have been applied to globally map genetic interactions, we still do not understand how gene-gene interactions arise from the operation of biomolecular networks. To bridge the gap between empirical and computational studies, we i, quantitatively measured genetic interactions between ~185,000 metabolic gene pairs in Saccharomyces cerevisiae, ii, superposed the data on a detailed systems biology model of metabolism and iii, introduced a machine-learning method to reconcile empirical interaction data with model predictions. We systematically investigated the relative impacts of functional modularity and metabolic flux coupling on the distribution of negative and positive genetic interactions. We also provide a mechanistic explanation for the link between the degree of genetic interaction, pleiotropy and gene dispensability. Last, we show the feasibility of automated metabolic model refinement by correcting misannotations in NAD biosynthesis and confirming them by in vivo experiments. 相似文献
127.
Bass AJ Lawrence MS Brace LE Ramos AH Drier Y Cibulskis K Sougnez C Voet D Saksena G Sivachenko A Jing R Parkin M Pugh T Verhaak RG Stransky N Boutin AT Barretina J Solit DB Vakiani E Shao W Mishina Y Warmuth M Jimenez J Chiang DY Signoretti S Kaelin WG Spardy N Hahn WC Hoshida Y Ogino S Depinho RA Chin L Garraway LA Fuchs CS Baselga J Tabernero J Gabriel S Lander ES Getz G Meyerson M 《Nature genetics》2011,43(10):964-968
Prior studies have identified recurrent oncogenic mutations in colorectal adenocarcinoma and have surveyed exons of protein-coding genes for mutations in 11 affected individuals. Here we report whole-genome sequencing from nine individuals with colorectal cancer, including primary colorectal tumors and matched adjacent non-tumor tissues, at an average of 30.7× and 31.9× coverage, respectively. We identify an average of 75 somatic rearrangements per tumor, including complex networks of translocations between pairs of chromosomes. Eleven rearrangements encode predicted in-frame fusion proteins, including a fusion of VTI1A and TCF7L2 found in 3 out of 97 colorectal cancers. Although TCF7L2 encodes TCF4, which cooperates with β-catenin in colorectal carcinogenesis, the fusion lacks the TCF4 β-catenin-binding domain. We found a colorectal carcinoma cell line harboring the fusion gene to be dependent on VTI1A-TCF7L2 for anchorage-independent growth using RNA interference-mediated knockdown. This study shows previously unidentified levels of genomic rearrangements in colorectal carcinoma that can lead to essential gene fusions and other oncogenic events. 相似文献
128.
Analysis of the coding genome of diffuse large B-cell lymphoma 总被引:1,自引:0,他引:1
Pasqualucci L Trifonov V Fabbri G Ma J Rossi D Chiarenza A Wells VA Grunn A Messina M Elliot O Chan J Bhagat G Chadburn A Gaidano G Mullighan CG Rabadan R Dalla-Favera R 《Nature genetics》2011,43(9):830-837
Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular pathways, remains unknown. By combining next-generation sequencing and copy number analysis, we show that the DLBCL coding genome contains, on average, more than 30 clonally represented gene alterations per case. This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells. These results provide initial data on the complexity of the DLBCL coding genome and identify novel dysregulated pathways underlying its pathogenesis. 相似文献
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