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1.
Loos RJ Lindgren CM Li S Wheeler E Zhao JH Prokopenko I Inouye M Freathy RM Attwood AP Beckmann JS Berndt SI;Prostate Lung Colorectal Ovarian 《Nature genetics》2008,40(6):768-775
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 x 10(-15)) and 5,988 children aged 7-11 (0.13 Z-score units; P = 1.5 x 10(-8)). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 x 10(-11)). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 x 10(-4)). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits. 相似文献
2.
The Kunstkammer of the Electors of Saxony, founded in Dresden around 1560, housed one of the richest collections of tools and scientific instruments in its day. A close analysis of the optical objects in the collection in the decades around 1600 is undertaken here—in particular, their arrangement by a mathematically trained curator, Lucas Brunn, and their use in an ‘experiment’ by a distinguished visitor, Johannes Kepler. It is argued that the selection, display and use of optical objects within this collection reflect a specific, playful image of optics promoted at the Saxon court. 相似文献
3.
Neuroplasticity: changes in grey matter induced by training 总被引:3,自引:0,他引:3
4.
Revealing modular organization in the yeast transcriptional network 总被引:21,自引:0,他引:21
5.
Loss and recovery of wings in stick insects 总被引:14,自引:0,他引:14
The evolution of wings was the central adaptation allowing insects to escape predators, exploit scattered resources, and disperse into new niches, resulting in radiations into vast numbers of species. Despite the presumed evolutionary advantages associated with full-sized wings (macroptery), nearly all pterygote (winged) orders have many partially winged (brachypterous) or wingless (apterous) lineages, and some entire orders are secondarily wingless (for example, fleas, lice, grylloblattids and mantophasmatids), with about 5% of extant pterygote species being flightless. Thousands of independent transitions from a winged form to winglessness have occurred during the course of insect evolution; however, an evolutionary reversal from a flightless to a volant form has never been demonstrated clearly for any pterygote lineage. Such a reversal is considered highly unlikely because complex interactions between nerves, muscles, sclerites and wing foils are required to accommodate flight. Here we show that stick insects (order Phasmatodea) diversified as wingless insects and that wings were derived secondarily, perhaps on many occasions. These results suggest that wing developmental pathways are conserved in wingless phasmids, and that 're-evolution' of wings has had an unrecognized role in insect diversification. 相似文献
6.
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin 总被引:6,自引:0,他引:6
Levy-Nissenbaum E Betz RC Frydman M Simon M Lahat H Bakhan T Goldman B Bygum A Pierick M Hillmer AM Jonca N Toribio J Kruse R Dewald G Cichon S Kubisch C Guerrin M Serre G Nöthen MM Pras E 《Nature genetics》2003,34(2):151-153
We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology. 相似文献
7.
Sven Dijkgraaf 《Cellular and molecular life sciences : CMLS》1946,2(11):438-448
Ohne Zusammenfassung 相似文献
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9.
Sven Herrmann Katharina T. Huber Vincent Moulton Andreas Spillner 《Journal of Classification》2012,29(3):321-340
A k-dissimilarity D on a finite set X, |X|????k, is a map from the set of size k subsets of X to the real numbers. Such maps naturally arise from edgeweighted trees T with leaf-set X: Given a subset Y of X of size k, D(Y ) is defined to be the total length of the smallest subtree of T with leaf-set Y . In case k?=?2, it is well-known that 2-dissimilarities arising in this way can be characterized by the so-called ??4-point condition??. However, in case k?>?2 Pachter and Speyer (2004) recently posed the following question: Given an arbitrary k-dissimilarity, how do we test whether this map comes from a tree? In this paper, we provide an answer to this question, showing that for k????3 a k-dissimilarity on a set X arises from a tree if and only if its restriction to every 2?k-element subset of X arises from some tree, and that 2?k is the least possible subset size to ensure that this is the case. As a corollary, we show that there exists a polynomial-time algorithm to determine when a k-dissimilarity arises from a tree. We also give a 6-point condition for determining when a 3-dissimilarity arises from a tree, that is similar to the aforementioned 4-point condition. 相似文献
10.
The Limits of Precaution 总被引:1,自引:0,他引:1
Sven Ove Hansson 《Foundations of Science》1997,2(2):293-306
The maximin rule can be used as a formal version of the precautionary principle. This paper evaluates the feasibility and
the intuitive plausibility of this decision rule. The major conclusions are: (1) Precaution has to be applied symmetrically.
(2) Precaution is only possible when outcomes are comparable in terms of value, so that it can be determined which outcome
is worst. (3) Precaution is sensitive to standards of possibility. Far-away scenarios have to be excluded, and it is difficult
to find a principled way to draw the line. (4) Precaution is sensitive to the framing of decision problems. Local cautiousness
may add up to global incautiousness.
This revised version was published online in July 2006 with corrections to the Cover Date. 相似文献