排序方式: 共有37条查询结果,搜索用时 125 毫秒
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Dunlop MG Dobbins SE Farrington SM Jones AM Palles C Whiffin N Tenesa A Spain S Broderick P Ooi LY Domingo E Smillie C Henrion M Frampton M Martin L Grimes G Gorman M Semple C Ma YP Barclay E Prendergast J Cazier JB Olver B Penegar S Lubbe S Chander I Carvajal-Carmona LG Ballereau S Lloyd A Vijayakrishnan J Zgaga L Rudan I Theodoratou E;Colorectal Tumour Gene Identification 《Nature genetics》2012,44(7):770-776
We performed a meta-analysis of five genome-wide association studies to identify common variants influencing colorectal cancer (CRC) risk comprising 8,682 cases and 9,649 controls. Replication analysis was performed in case-control sets totaling 21,096 cases and 19,555 controls. We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 × 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 × 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC. 相似文献
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Scaling laws of marine predator search behaviour 总被引:1,自引:0,他引:1
Sims DW Southall EJ Humphries NE Hays GC Bradshaw CJ Pitchford JW James A Ahmed MZ Brierley AS Hindell MA Morritt D Musyl MK Righton D Shepard EL Wearmouth VJ Wilson RP Witt MJ Metcalfe JD 《Nature》2008,451(7182):1098-1102
Many free-ranging predators have to make foraging decisions with little, if any, knowledge of present resource distribution and availability. The optimal search strategy they should use to maximize encounter rates with prey in heterogeneous natural environments remains a largely unresolved issue in ecology. Lévy walks are specialized random walks giving rise to fractal movement trajectories that may represent an optimal solution for searching complex landscapes. However, the adaptive significance of this putative strategy in response to natural prey distributions remains untested. Here we analyse over a million movement displacements recorded from animal-attached electronic tags to show that diverse marine predators-sharks, bony fishes, sea turtles and penguins-exhibit Lévy-walk-like behaviour close to a theoretical optimum. Prey density distributions also display Lévy-like fractal patterns, suggesting response movements by predators to prey distributions. Simulations show that predators have higher encounter rates when adopting Lévy-type foraging in natural-like prey fields compared with purely random landscapes. This is consistent with the hypothesis that observed search patterns are adapted to observed statistical patterns of the landscape. This may explain why Lévy-like behaviour seems to be widespread among diverse organisms, from microbes to humans, as a 'rule' that evolved in response to patchy resource distributions. 相似文献
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Huber C Dias-Santagata D Glaser A O'Sullivan J Brauner R Wu K Xu X Pearce K Wang R Uzielli ML Dagoneau N Chemaitilly W Superti-Furga A Dos Santos H Mégarbané A Morin G Gillessen-Kaesbach G Hennekam R Van der Burgt I Black GC Clayton PE Read A Le Merrer M Scambler PJ Munnich A Pan ZQ Winter R Cormier-Daire V 《Nature genetics》2005,37(10):1119-1124
Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduced placental perfusion. Although various causes of intrauterine growth retardation have been identified, most cases remain unexplained. Studying 29 families with 3-M syndrome (OMIM 273750), an autosomal recessive condition characterized by severe pre- and postnatal growth retardation, we first mapped the underlying gene to chromosome 6p21.1 and then identified 25 distinct mutations in the gene cullin 7 (CUL7). CUL7 assembles an E3 ubiquitin ligase complex containing Skp1, Fbx29 (also called Fbw8) and ROC1 and promotes ubiquitination. Using deletion analysis, we found that CUL7 uses its central region to interact with the Skp1-Fbx29 heterodimer. Functional studies indicated that the 3-M-associated CUL7 nonsense and missense mutations R1445X and H1464P, respectively, render CUL7 deficient in recruiting ROC1. These results suggest that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans. 相似文献
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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR 总被引:5,自引:0,他引:5
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Mutations in SBDS are associated with Shwachman-Diamond syndrome 总被引:17,自引:0,他引:17
Boocock GR Morrison JA Popovic M Richards N Ellis L Durie PR Rommens JM 《Nature genetics》2003,33(1):97-101