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961.
Riccardo E. Marioni Lars Penke Gail Davies Jennifer E. Huffman Caroline Hayward Ian J. Deary 《Proceedings. Biological sciences / The Royal Society》2014,281(1781)
Human cognitive ability shows consistent, positive associations with fitness components across the life-course. Underlying genetic variation should therefore be depleted by selection, which is not observed. Genetic variation in general cognitive ability (intelligence) could be maintained by a mutation–selection balance, with rare variants contributing to its genetic architecture. This study examines the association between the total number of rare stop-gain/loss, splice and missense exonic variants and cognitive ability in childhood and old age in the same individuals. Exome array data were obtained in the Lothian Birth Cohorts of 1921 and 1936 (combined N = 1596). General cognitive ability was assessed at age 11 years and in late life (79 and 70 years, respectively) and was modelled against the total number of stop-gain/loss, splice, and missense exonic variants, with minor allele frequency less than or equal to 0.01, using linear regression adjusted for age and sex. In both cohorts and in both the childhood and late-life models, there were no significant associations between rare variant burden in the exome and cognitive ability that survived correction for multiple testing. Contrary to our a priori hypothesis, we observed no evidence for an association between the total number of rare exonic variants and either childhood cognitive ability or late-life cognitive ability. 相似文献
962.
In patients suffering from Parkinson's disease (PD), we analyzed correlations between the parameters of contingent negative
variation (CNV) and data of variational pulsometry (according to the measurements of R-R ECG intervals). Studies were carried
out on 35 patients (group PD), 49 to 74 years old, with the stage of disease of 1.5 to 3.0 according to the Hoehn-Yahr international
classification. In the course of CNV recording (i.e., in the state of a certain functional loading), we observed significant
negative correlations between the integral magnitude (area) of this potential and indices of variational pulsometry (RMSSD,
SDNN, C. var, and HF) that characterize the intensity of parasympathetic (respiratory) influences on the cardiovascular system.
In the control group, such correlations were absent. We found significant correlations between the autonomic balance, CNV
magnitude, and stage of PD reflecting the level of generalization of the pathological process. In the subgroup of patients
with the PD stage 1.5 to 2.0, significant changes in the mean values of indices of parasympathetic influences during recording
of the CNV were not observed, while in another subgroup (the PD stage 2.5 to 3.0), these values increased significantly (P < 0.05 and P < 0.01). If the estimates of the PD stage were low, the CNV area demonstrated greater values (P < 0.01). The disturbance of coordination of muscle-to-muscle interactions in the PD group is, probably, an important factor
responsible for parasympathetic dysregulation and suppression of the CNV generation. We found positive correlation between
the intensity of parasympathetic influences in the course of CNV recording and the level of postural disorders (r = 0.37, P < 0.05). On the contrary, the CNV magnitude demonstrated a negative correlation with the intensity of these disorders (r = −0.36, P < 0.05), as well as with the level of postural instability (r = −0.55, P < 0.001). We hypothesize that alterations of the autonomic balance and the activity of those cerebral structures, which are
responsible for the motor readiness, result, to a significant extent, from weakening of the activity of the noradrenergic
system due to degenerative processes developing in cells of the locus coeruleus. The impairment of the latter structure, together with degeneration of neurons of the substantia nigra and a decrease in the level of nigro-striatal dopamine, underlies the pathomorphological pattern of PD.
Neirofiziologiya/Neurophysiology, Vol. 40, No. 3, pp. 242–253, May–June, 2008. 相似文献
963.
E. V. Esin 《Journal of Ichthyology》2009,49(9):777-785
Seinings of the lowland bed of a typical small river of Western Kamchatka demonstrated that of several methods for the census
of juveniles of salmonids (Salmonidae) the most accurate result in comparison with complete removal is obtained by three-fold
seining with calculation of abundance by the Zippin method. In comparison with a seine, a drive-in trap and electrofishing
possess a lower average catching efficiency and a higher selectivity. The average density of fish estimated by the results
of seining at the investigated stretch was 0.55–0.57 specimens/m2. 相似文献
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969.
The separation and estimation of ribonucleotides in minute quantities 总被引:11,自引:0,他引:11
MAGASANIK B VISCHER E DONIGER R ELSON D CHARGAFF E 《The Journal of biological chemistry》1950,186(1):37-50
970.