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Mutations in PARK2 are considered a common cause of Parkinson’s disease (PD). To assess the frequency of PARK2 mutations in the Korean population, we screened the PARK2 gene in 83 Korean PD patients: two young onset (YO, ≤ 49), 32 middle onset (MO, 50–69) and 49 late onset (LO, ≥ 70). Detection of the point mutations was performed by direct sequencing of the PARK2 exons, and exonic rearrangements were analyzed using multiplex ligation-dependent probe amplification. Five known PARK2 variants were identified in 53 (63.9 %) of the Korean PD patients: two missense mutations (Y267H and M458L) and three polymorphisms (S167N, L272I and V380L). We also found an increased frequency of PARK2 variants in PD patients and a lowered PD age at onset (AAO) in those having two variants, suggesting that the genetic variation in PARK2 gene might be a genetic risk factor of PD in Korean population. 相似文献
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Peter Ihm 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》1957,27(4):172-177
Ohne ZusammenfassungMit 5 Textabbildungen 相似文献
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Yamazaki KG Ihm SH Thomas RL Roth D Villarreal F 《American journal of physiology. Heart and circulatory physiology》2012,302(7):H1387-H1393
Poorly synchronized activation of the ventricles can lead to impairment of normal cardiac structure/function. We reported previously that short term (4 h) left ventricular (LV) pacing-induced ventricular dyskinesis led to an inflammatory response localized to the epicardium. Results from this study demonstrated that neutrophils may play a major role in this inflammatory process. Neutrophil recruitment to a site of injury is a process that is highly dependent on an upregulation of cell adhesion molecules (CAM). The dependence of ventricular dysynchrony-induced inflammatory responses on CAM upregulation has not been explored. To gain further insight, we used a mouse model of LV pacing to evaluate the role of CAM in mediating the inflammatory response associated with ventricular dyskinesis. We first examined the effects of LV pacing in wild-type mice. Results demonstrate that 40 min of LV pacing increases ICAM-1 immunostaining as well as myeloperoxidase activity and tissue oxidative stress by twofold in early-activated myocardium. Matrix metalloproteinase-9 activity also increased in the same region by ~3.5-fold. To determine the role of CAM, mice null for ICAM-1 or p-selectin were subjected to 40 min LV pacing. Results demonstrate that the inflammatory response seen in the wild-type mice was significantly mitigated in the ICAM-1 and p-selectin null mice. In conclusion, results demonstrate that CAM expression plays a critical role in the triggering of LV pacing-induced inflammation, thus providing evidence of a vascular mechanism underlying this response. The mechanisms that trigger an upregulation of myocardial CAM expression and, therefore, inflammation await further investigation since they suggest a specific involvement of vascular events. 相似文献
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Jahei Ihm Judith A.K. Harmony Jeff Ellsworth Richard L. Jackson 《Biochemical and biophysical research communications》1980,93(4):1114-1120
Protein(s) catalyzing the transfer of [3H]cholesteryl ester and [14C]-phosphatidylcholine from high density lipoproteins to low density lipoproteins have been purified 4829-fold from human plasma by chromatography of the d > 1.21 g/ml infranatant fraction of human plasma on phenyl-Sepharose, CM-cellulose, concanavalin A-Sepharose, and finally by isoelectric focussing. At each step of the purification, both transfer activities coelute. The purified protein(s), molecular weight 150,000, transfer cholesteryl esters and phosphatidylcholine with a 1:1 stoichiometry and at equal rates of flux. Rat plasma contains a protein(s) which facilitates the transfer of phosphatidylcholine as effectively as human plasma. However, the rat plasma protein(s) does not facilitate the transfer of cholesteryl esters. These results suggest that human plasma contains one or more proteins which transfer both lipids, possibly as a 1:1 complex, whereas rat plasma lacks the cholesteryl ester transfer protein. 相似文献
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Pala N Dallocchio R Dessì A Brancale A Carta F Ihm S Maresca A Sechi M Supuran CT 《Bioorganic & medicinal chemistry letters》2011,21(8):2515-2520
Combinated ligand- and pharmacophore-based virtual screening approaches were used to discover novel potential pharmacophores acting as carbonic anhydrase (CA, EC 4.2.1.1) inhibitors (CAIs). A free database of commercially available compounds was screened through drug-like filters using a four-point pharmacophore, and followed by docking calculation within the active site of an X-ray structure of isoform CA II. One compound, bearing a trifluoro-dihydroxy-propanone moiety, showed an interesting, selective inhibitory activity in low micromolar range against this isoform versus CA I. The chemical originality of this new pharmacophore can represent an important bioisosteric alternative to the sulfonamido-based functionalities, thus leading to the development of a new class of CAIs. 相似文献
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