排序方式: 共有45条查询结果,搜索用时 15 毫秒
41.
Barnes C Plagnol V Fitzgerald T Redon R Marchini J Clayton D Hurles ME 《Nature genetics》2008,40(10):1245-1252
Copy number variation (CNV) is pervasive in the human genome and can play a causal role in genetic diseases. The functional impact of CNV cannot be fully captured through linkage disequilibrium with SNPs. These observations motivate the development of statistical methods for performing direct CNV association studies. We show through simulation that current tests for CNV association are prone to false-positive associations in the presence of differential errors between cases and controls, especially if quantitative CNV measurements are noisy. We present a statistical framework for performing case-control CNV association studies that applies likelihood ratio testing of quantitative CNV measurements in cases and controls. We show that our methods are robust to differential errors and noisy data and can achieve maximal theoretical power. We illustrate the power of these methods for testing for association with binary and quantitative traits, and have made this software available as the R package CNVtools. 相似文献
42.
Scott J. Fitzgerald 《西北部美国博物学家》2011,59(2)
Plecia akerionana , n. sp., is described from the Green River Formation, Colorado, and diagnosed with P. minutula Rice, P. myersi Peterson, and P. rhodopterina Cockerell. Plecia intermedia (Scudder), the genotype of Mycetophaetus , and Plecia creedensis James are transferred to the genus Penthetria , and Hesperinus immutabilis Melander is transferred to Plecia . 相似文献
43.
Genomic diversity correlates with clinical variation in Ph'-negative chronic myeloid leukaemia 总被引:3,自引:0,他引:3
C M Morris A E Reeve P H Fitzgerald P E Hollings M E Beard D C Heaton 《Nature》1986,320(6059):281-283
44.
Melanin-concentrating hormone is the cognate ligand for the orphan G-protein-coupled receptor SLC-1. 总被引:23,自引:0,他引:23
J Chambers R S Ames D Bergsma A Muir L R Fitzgerald G Hervieu G M Dytko J J Foley J Martin W S Liu J Park C Ellis S Ganguly S Konchar J Cluderay R Leslie S Wilson H M Sarau 《Nature》1999,400(6741):261-265
The underlying causes of obesity are poorly understood but probably involve complex interactions between many neurotransmitter and neuropeptide systems involved in the regulation of food intake and energy balance. Three pieces of evidence indicate that the neuropeptide melanin-concentrating hormone (MCH) is an important component of this system. First, MCH stimulates feeding when injected directly into rat brains; second, the messenger RNA for the MCH precursor is upregulated in the hypothalamus of genetically obese mice and in fasted animals; and third, mice lacking MCH eat less and are lean. MCH antagonists might, therefore, provide a treatment for obesity. However, the development of such molecules has been hampered because the identity of the MCH receptor has been unknown until now. Here we show that the 353-amino-acid human orphan G-protein-coupled receptor SLC-1 expressed in HEK293 cells binds MCH with sub-nanomolar affinity, and is stimulated by MCH to mobilize intracellular Ca2+ and reduce forskolin-elevated cyclic AMP levels. We also show that SLC-1 messenger RNA and protein is expressed in the ventromedial and dorsomedial nuclei of the hypothalamus, consistent with a role for SLC-1 in mediating the effects of MCH on feeding. 相似文献
45.
Summary Colchicine-inhibition of polymerization of tubulin from rats, mice, golden hamsters and guinea-pigs was studied to determine if species differences in tubulin sensitivity to colchicine might parallel species variation in colchicine toxicity. It was found that polymerization of tubulin is nearly equally sensitive to colchicine in all four species.This work was supported by PHS Grant No. CA 16425. 相似文献