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1.
2.
Romeo S Pennacchio LA Fu Y Boerwinkle E Tybjaerg-Hansen A Hobbs HH Cohen JC 《Nature genetics》2007,39(4):513-516
Resequencing genes provides the opportunity to assess the full spectrum of variants that influence complex traits. Here we report the first application of resequencing to a large population (n = 3,551) to examine the role of the adipokine ANGPTL4 in lipid metabolism. Nonsynonymous variants in ANGPTL4 were more prevalent in individuals with triglyceride levels in the lowest quartile than in individuals with levels in the highest quartile (P = 0.016). One variant (E40K), present in approximately 3% of European Americans, was associated with significantly lower plasma levels of triglyceride and higher levels of high-density lipoprotein cholesterol in European Americans from the Atherosclerosis Risk in Communities Study and in Danes from the Copenhagen City Heart Study. The ratio of nonsynonymous to synonymous variants was higher in European Americans than in African Americans (4:1 versus 1.3:1), suggesting population-specific relaxation of purifying selection. Thus, resequencing of ANGPTL4 in a multiethnic population allowed analysis of the phenotypic effects of both rare and common variants while taking advantage of genetic variation arising from ethnic differences in population history. 相似文献
3.
F. Mulè 《Cellular and molecular life sciences : CMLS》1948,4(3):115-117
Summary A study was undertaken on the variations of the redox potential level produced by streptomycinin vitro andin vivo. We have been able to show that, owing to an oxidative effect, streptomycin produces an increase of the redox potential level. This oxidative effect varies in degree according to the condition of the patient.We also found that in the blood and in the spinal fluid of patients suffering from tubercular meningitis factors are present which inhibit the action of streptomycin.The results of our findings lead to the conclusion that the dose of streptomycin must be varied according to the condition of the patient if the constant level required for an efficient therapy is to be maintained in the blood and in the spinal fluid. 相似文献
4.
Ana Cuesta Laia Pedrola Teresa Sevilla Javier García-Planells María José Chumillas Fernando Mayordomo Eric LeGuern Ignacio Marín Juan J Vílchez Francesc Palau 《Nature genetics》2002,30(1):22-25
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes. 相似文献
5.
TextileandUncontrolledFires Textilesarethethirdbasicrequirementforhumanlifeafterfoodandshelter.Textilesareusedforthermalprotectionagainsthostileweatherandtocovernakedness.Textilesalsoprovidecom fortinlifeintheformoffurnishings :upholstery ,carpets ,etc .… 相似文献
6.
Dina C Meyre D Gallina S Durand E Körner A Jacobson P Carlsson LM Kiess W Vatin V Lecoeur C Delplanque J Vaillant E Pattou F Ruiz J Weill J Levy-Marchal C Horber F Potoczna N Hercberg S Le Stunff C Bougnères P Kovacs P Marre M Balkau B Cauchi S Chèvre JC Froguel P 《Nature genetics》2007,39(6):724-726
We identified a set of SNPs in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16q12.2 that is consistently strongly associated with early-onset and severe obesity in both adults and children of European ancestry with an experiment-wise P value of 1.67 x 10(-26) in 2,900 affected individuals and 5,100 controls. The at-risk haplotype yields a proportion of attributable risk of 22% for common obesity. We conclude that FTO contributes to human obesity and hence may be a target for subsequent functional analyses. 相似文献
7.
D. Migliore-Samour M. Delaforge M. Jaouen D. Mansuy P. Jollès 《Cellular and molecular life sciences : CMLS》1989,45(9):882-886
Summary Immunomodulating lipopeptides lauroyl-L-Ala--D-Glu-LL-A2pmNH2-Gly (RP 44.102) and lauroyl-L-Ala--D-Glu-LL-A2pmNH2 (RP 56.142) were found to protect mice against the hepatotoxicity of paracetamol, which is due to cytochrome P-450 dependent formation of toxic metabolites and radicals. In fact they decreased the amount of hepatic microsomal cytochrome P-450, and the level of CCl4-induced lipid peroxidation. In contrast lauroyl-L-Ala--D-Glu-DD-A2pmNH2 (RP 53.204), which only differs by the configuration of the two chiral carbons of A2pm (diaminopimelic acid) and is not an immunomodulating agent, failed to protect against poisoning by paracetamol and had no effect on the level of hepatic cytochrome P-450 or the microsomal CCl4-induced lipid peroxidation. This provides a clear connection between the immunostimulating properties of a compound and its effects on xenobiotic biotransformations. 相似文献
8.
In the normal and hypothyroid 6-day-old rat, the specific radioactivity (RSA) and the relative RSA (ratio of the RSA to the [3H] lecine concentration of the acido soluble phase) of the cerebral and cerebellar proteins, changes during the day synchronally. They show a maximum at 15.00 h and a minimum at 0.300 h. At all stages studied, these values are significantly lower in the hyothyroid animals than in normal ones. 相似文献
9.
Summary Silver-staining has been used to identify the nucleolus organizer regions (NORs) in the bharal. These show homology with sheep, goat, cattle and aoudad. The association of the NORs on both telomeres of chromosome 3 results in a ring chromosome. 相似文献
10.
Structure,biosynthesis and functions of glycoprotein glycans 总被引:14,自引:0,他引:14
Eric G. Berger Eckhart Buddecke Johannis P. Kamerling Akira Kobata James C. Paulson Johannes F. G. Vliegenthart 《Cellular and molecular life sciences : CMLS》1982,38(10):1129-1162
Since the pioneering work on structure and function of heteroglycans compiled in the classical books edited by A. Gottschalk in 19721, there have been several promising developments in glycoconjugate research, as reviewed in this article.In Part 1, contributed by A. Kobata, current knowledge on heteroglycan structures is presented and representative examples taken from higher organisms are given. Part 2, written by J. F. G. Vliegenthart and J. P. Kamerling, covers the most important achievements in methodology: procedures to obtain pure glycans and to analyze their structures. Part 3, contributed by J. Paulson, is devoted to biosynthesis of glycans now describable as pathways since several of the glycosyltransferases have been isolated and analyzed for specificity. In Part 4, contributed by E. Buddecke, current knowledge on functional roles of glycans is presented. It will become apparent that the prerequisite for valid work either in biosynthetic or functional context depends on solid structural information. This is particularly true whenever glycosyltransferase reaction products are being analyzed, or glycans involved in biological functions are investigated. Although in past years, a great deal of important knowledge has been gathered by use of crude glycosidase or glycosyltransferase activities (a notable example is found in reference 2), one may now postulate that glycans implicated in biological reactions should be thoroughly analyzed.This review may familiarize newcomers with the field of glycoconjugate research with special emphasis on glycoprotein glycans. Glycolipids are not included in this article as they have recently been reviewed by S. I. Hakomori3. The reader is also referred to several excellent monographs4,5 and the Proceedings of the Glycoconjugate Symposia held biannually6–8. 相似文献