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排序方式: 共有145条查询结果,搜索用时 62 毫秒
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Anke Wesselius Martijn JL Bours Niklas R Jørgensen James Wiley Ben Gu Svenjhalmar van Helden Lodewijk van Rhijn Pieter C Dagnelie 《Purinergic signalling》2013,9(1):123-130
In the present study we investigated whether single nucleotide polymorphisms (SNPs) in the P2RX4, which alter the P2X4R function, are associated with the development of osteoporosis and whether an interaction between the P2X4R and P2X7R confer a synergistic effect of these two receptors on osteoporosis risk. Patients with fracture (690 females and 231 males, aged ≥50 years) were genotyped for three non-synonymous P2X4R SNPs. Bone mineral density (BMD) was measured at the total hip, lumbar spine, and femoral neck. Subject carrying the variant allele of the Tyr315Cys polymorphism showed a 2.68-fold (95 % CI, 1.20–6.02) higher risk of osteoporosis compared with wild-type subject. Furthermore, significant lower lumbar spine BMD values were observed in subjects carrying the Cys315 allele as compared with wild-type (0.85 ± 0.17 and 0.93 ± 0.17 g/cm2, respectively; p < 0.001). Assuming a recessive model, carriers of the variant allele of the Ser242Gly polymorphism showed increased BMD values at the lumbar spine compare to wild-type subject (1.11 ± 0.35 and 0.92 ± 0.17 g/cm2, respectively; p = 0.0045). This is the first study demonstrating an association of non-synonymous polymorphisms in the P2RX4 and the risk of osteoporosis, suggesting a role of the P2X4R in the regulation of bone mass.
Electronic supplementary material
The online version of this article (doi:10.1007/s11302-012-9337-0) contains supplementary material, which is available to authorized users. 相似文献84.
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Gattis JL Washington AV Chisholm MM Quigley L Szyk A McVicar DW Lubkowski J 《The Journal of biological chemistry》2006,281(19):13396-13403
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SB Lanzavecchia MI Remis JL Cladera RO Zandomeni 《Entomologia Experimentalis et Applicata》2010,136(1):53-65
DNA size polymorphisms were utilized in a study of 24 natural populations of Ceratitis capitata Wiedemann (Diptera: Tephritidae) from Argentina. The first intron of alcohol dehydrogenase 1 gene (Adh1) was amplified using exon priming intron crossing‐polymerase chain reaction. Three size variants were detected among the 307 samples analyzed. To better differentiate the size variants, further digestion of PCR products with the EcoRI restriction enzyme was carried out. Complete nucleotide sequences of the three‐allele variants were obtained and single changes, insertions, deletions, and EcoRI recognition sites were located. Population allele frequencies were analyzed and a global mean heterozygosity (He) of 0.33 was obtained. In most populations, observed allelic frequencies conformed to Hardy–Weinberg expectations. Significant differences between provinces and sampling sites within these provinces, and among some populations were found. The average number of insects exchanged among populations (Nm) was estimated and high values were observed between Argentina and populations from two African countries (Morocco and Kenya), Australia, and Hawaii (Kauai). Pest introduction sources and dispersion patterns in Argentina are discussed based on these results as well as on available bibliographical data. 相似文献
88.
RNA polymerase II primes Polycomb‐repressed developmental genes throughout terminal neuronal differentiation
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89.
Action generation and action perception in imitation: an instance of the ideomotor principle 总被引:7,自引:0,他引:7
Wohlschläger A Gattis M Bekkering H 《Philosophical transactions of the Royal Society of London. Series B, Biological sciences》2003,358(1431):501-515
We review a series of behavioural experiments on imitation in children and adults that test the predictions of a new theory of imitation. Most of the recent theories of imitation assume a direct visual-to-motor mapping between perceived and imitated movements. Based on our findings of systematic errors in imitation, the new theory of goal-directed imitation (GOADI) instead assumes that imitation is guided by cognitively specified goals. According to GOADI, the imitator does not imitate the observed movement as a whole, but rather decomposes it into its separate aspects. These aspects are hierarchically ordered, and the highest aspect becomes the imitator's main goal. Other aspects become sub-goals. In accordance with the ideomotor principle, the main goal activates the motor programme that is most strongly associated with the achievement of that goal. When executed, this motor programme sometimes matches, and sometimes does not, the model's movement. However, the main goal extracted from the model movement is almost always imitated correctly. 相似文献
90.
K?Zouaoui?BoudjeltiaEmail author Ph?Cauchie Cl?Remacle M?Guillaume D?Brohée JL?Hubert M?Vanhaeverbeek 《BMC biotechnology》2002,2(1):8