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排序方式: 共有514条查询结果,搜索用时 46 毫秒
391.
Evans DM Spencer CC Pointon JJ Su Z Harvey D Kochan G Oppermann U Opperman U Dilthey A Pirinen M Stone MA Appleton L Moutsianas L Moutsianis L Leslie S Wordsworth T Kenna TJ Karaderi T Thomas GP Ward MM Weisman MH Farrar C Bradbury LA Danoy P Inman RD Maksymowych W Gladman D Rahman P;Spondyloarthritis Research Consortium of Canada 《Nature genetics》2011,43(8):761-767
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied). We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals. These findings provide strong evidence that HLA-B27 operates in ankylosing spondylitis through a mechanism involving aberrant processing of antigenic peptides. 相似文献
392.
Genome-wide association study identifies a common variant associated with risk of endometrial cancer
Spurdle AB Thompson DJ Ahmed S Ferguson K Healey CS O'Mara T Walker LC Montgomery SB Dermitzakis ET;Australian National Endometrial Cancer Study Group Fahey P Montgomery GW Webb PM Fasching PA Beckmann MW Ekici AB Hein A Lambrechts D Coenegrachts L Vergote I Amant F Salvesen HB Trovik J Njolstad TS Helland H Scott RJ Ashton K Proietto T Otton G;National Study of Endometrial Cancer Genetics Group Tomlinson I Gorman M Howarth K Hodgson S Garcia-Closas M Wentzensen N Yang H Chanock S Hall P 《Nature genetics》2011,43(5):451-454
Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 controls from the Wellcome Trust Case Control Consortium. We compared genotype frequencies in cases and controls for 519,655 SNPs. Forty seven SNPs that showed evidence of association with endometrial cancer in stage 1 were genotyped in 3,957 additional cases and 6,886 controls. We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes. 相似文献
393.
Various forms of action research have been proposed as remedies for the one-sided focus on theoretical interests existing in Business School research. Among other conceptual elaborations, Insider Action Research (IAR) suggests that action research needs to be supported by an insider's view of activities in order to achieve any substantial contribution to practice and theory. Even though the IAR model is potentially capable of overcoming a number of practical, political, and epistemological problems, it has been explored relatively little in terms of practical examples and lessons. This paper presents the account of an Insider Action researcher at the Volvo Car Corporation, aimed at studying the development of environmental strategies and “eco-benign” automobiles “from the inside”. The paper suggests that even though IAR remains a promising model, the political ingenuity and savoir-faire of the insider action researcher must not be underrated.
相似文献
Alexander StyhreEmail: |
394.
Morphogenesis in skin is governed by discrete sets of differentially expressed microRNAs 总被引:24,自引:0,他引:24
Yi R O'Carroll D Pasolli HA Zhang Z Dietrich FS Tarakhovsky A Fuchs E 《Nature genetics》2006,38(3):356-362
During embryogenesis, multipotent progenitors within the single-layered surface epithelium differentiate to form the epidermis and its appendages. Here, we show that microRNAs (miRNAs) have an essential role in orchestrating these events. We cloned more than 100 miRNAs from skin and show that epidermis and hair follicles differentially express discrete miRNA families. To explore the functional significance of this finding, we conditionally targeted Dicer1 gene ablation in embryonic skin progenitors. Within the first week after loss of miRNA expression, cell fate specification and differentiation were not markedly impaired, and in the interfollicular epidermis, apoptosis was not markedly increased. Notably, however, developing hair germs evaginate rather than invaginate, thereby perturbing the epidermal organization. Here we characterize miRNAs in skin, the existence of which was hitherto unappreciated, and demonstrate their differential expression and importance in the morphogenesis of epithelial tissues within this vital organ. 相似文献
395.
Malek RL Wang HY Kwitek AE Greene AS Bhagabati N Borchardt G Cahill L Currier T Frank B Fu X Hasinoff M Howe E Letwin N Luu TV Saeed A Sajadi H Salzberg SL Sultana R Thiagarajan M Tsai J Veratti K White J Quackenbush J Jacob HJ Lee NH 《Nature genetics》2006,38(2):234-239
Cardiovascular disorders are influenced by genetic and environmental factors. The TIGR rodent expression web-based resource (TREX) contains over 2,200 microarray hybridizations, involving over 800 animals from 18 different rat strains. These strains comprise genetically diverse parental animals and a panel of chromosomal substitution strains derived by introgressing individual chromosomes from normotensive Brown Norway (BN/NHsdMcwi) rats into the background of Dahl salt sensitive (SS/JrHsdMcwi) rats. The profiles document gene-expression changes in both genders, four tissues (heart, lung, liver, kidney) and two environmental conditions (normoxia, hypoxia). This translates into almost 400 high-quality direct comparisons (not including replicates) and over 100,000 pairwise comparisons. As each individual chromosomal substitution strain represents on average less than a 5% change from the parental genome, consomic strains provide a useful mechanism to dissect complex traits and identify causative genes. We performed a variety of data-mining manipulations on the profiles and used complementary physiological data from the PhysGen resource to demonstrate how TREX can be used by the cardiovascular community for hypothesis generation. 相似文献
396.
Stevanin G Santorelli FM Azzedine H Coutinho P Chomilier J Denora PS Martin E Ouvrard-Hernandez AM Tessa A Bouslam N Lossos A Charles P Loureiro JL Elleuch N Confavreux C Cruz VT Ruberg M Leguern E Grid D Tazir M Fontaine B Filla A Bertini E Durr A Brice A 《Nature genetics》2007,39(3):366-372
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP. 相似文献
397.
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions 总被引:10,自引:0,他引:10
Winkelmann J Schormair B Lichtner P Ripke S Xiong L Jalilzadeh S Fulda S Pütz B Eckstein G Hauk S Trenkwalder C Zimprich A Stiasny-Kolster K Oertel W Bachmann CG Paulus W Peglau I Eisensehr I Montplaisir J Turecki G Rouleau G Gieger C Illig T Wichmann HE Holsboer F Müller-Myhsok B Meitinger T 《Nature genetics》2007,39(8):1000-1006
398.
Plenge RM Cotsapas C Davies L Price AL de Bakker PI Maller J Pe'er I Burtt NP Blumenstiel B DeFelice M Parkin M Barry R Winslow W Healy C Graham RR Neale BM Izmailova E Roubenoff R Parker AN Glass R Karlson EW Maher N Hafler DA Lee DM Seldin MF Remmers EF Lee AT Padyukov L Alfredsson L Coblyn J Weinblatt ME Gabriel SB Purcell S Klareskog L Gregersen PK Shadick NA Daly MJ Altshuler D 《Nature genetics》2007,39(12):1477-1482
To identify susceptibility alleles associated with rheumatoid arthritis, we genotyped 397 individuals with rheumatoid arthritis for 116,204 SNPs and carried out an association analysis in comparison to publicly available genotype data for 1,211 related individuals from the Framingham Heart Study. After evaluating and adjusting for technical and population biases, we identified a SNP at 6q23 (rs10499194, approximately 150 kb from TNFAIP3 and OLIG3) that was reproducibly associated with rheumatoid arthritis both in the genome-wide association (GWA) scan and in 5,541 additional case-control samples (P = 10(-3), GWA scan; P < 10(-6), replication; P = 10(-9), combined). In a concurrent study, the Wellcome Trust Case Control Consortium (WTCCC) has reported strong association of rheumatoid arthritis susceptibility to a different SNP located 3.8 kb from rs10499194 (rs6920220; P = 5 x 10(-6) in WTCCC). We show that these two SNP associations are statistically independent, are each reproducible in the comparison of our data and WTCCC data, and define risk and protective haplotypes for rheumatoid arthritis at 6q23. 相似文献
399.
400.
Cerf M Thiruvengadam N Mormann F Kraskov A Quiroga RQ Koch C Fried I 《Nature》2010,467(7319):1104-1108
Daily life continually confronts us with an exuberance of external, sensory stimuli competing with a rich stream of internal deliberations, plans and ruminations. The brain must select one or more of these for further processing. How this competition is resolved across multiple sensory and cognitive regions is not known; nor is it clear how internal thoughts and attention regulate this competition. Recording from single neurons in patients implanted with intracranial electrodes for clinical reasons, here we demonstrate that humans can regulate the activity of their neurons in the medial temporal lobe (MTL) to alter the outcome of the contest between external images and their internal representation. Subjects looked at a hybrid superposition of two images representing familiar individuals, landmarks, objects or animals and had to enhance one image at the expense of the other, competing one. Simultaneously, the spiking activity of their MTL neurons in different subregions and hemispheres was decoded in real time to control the content of the hybrid. Subjects reliably regulated, often on the first trial, the firing rate of their neurons, increasing the rate of some while simultaneously decreasing the rate of others. They did so by focusing onto one image, which gradually became clearer on the computer screen in front of their eyes, and thereby overriding sensory input. On the basis of the firing of these MTL neurons, the dynamics of the competition between visual images in the subject's mind was visualized on an external display. 相似文献