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61.
62.
A mutation in the gene for the rod photoreceptor molecule rhodopsin causes congenital night blindness. The mutation results in a replacement of Gly90 by an aspartic acid residue. Two molecular mechanisms have been proposed to explain the physiology of affected rod cells. One involves constitutive activity of the G90D mutant opsin [Rao, V. R., Cohen, G. B., & Oprian, D. D. (1994) Nature 367, 639-642]. A second involves increased photoreceptor noise caused by thermal isomerization of the G90D pigment chromophore [Sieving, P. A., Richards, J. E., Naarendorp F., Bingham, E. L., Scott, K., & Alpern, M. (1995) Proc. Natl. Acad. Sci. U.S.A. 92, 880-884]. Based on existing models of rhodopsin and in vitro biochemical studies of site-directed mutants, it appears likely that Gly90 is in the immediate proximity of the Schiff base chromophore linkage. We have studied in detail the mutant pigments G90D and G90D/E113A using biochemical and Fourier-transform infrared (FTIR) spectroscopic methods. The photoproduct of mutant pigment G90D, which absorbs maximally at 468 nm and contains a protonated Schiff base linkage, can activate transducin. However, the active photoproduct decays rapidly to opsin and free all-trans-retinal. FTIR studies of mutant G90D show that the dark state of the pigment has several structural features of metarhodopsin II, the active form of rhodopsin. These include a protonated carboxylic acid group at position Glu113 and increased hydrogen-bond strength of Asp83. Additional results, which relate to the structure of the active G90D photoproduct, are also reported. Taken together, these results may be relevant to understanding the molecular mechanism of congenital night blindness caused by the G90D mutation in human rhodopsin. 相似文献
63.
1. Characterization of allelic variants of the TPMT gene (TPMT) responsible for changes in TPMT activity, and elucidation of the mechanism by which these alleles act, are required because of the clinical importance of this polymorphism for patients receiving thiopurine drugs. 2. We defined the mutational and allelic spectrum of TPMT in a group of 191 Europeans. Using PCR-SSCP, we screened for mutation the entire coding sequence, the exon-intron boundaries, the promoter region and the 3'-flanking region of the gene. Six mutations were detected throughout the ten exons and seven TPMT alleles were characterized. Four of them, TPMT*2, *3A, *3C and *7, harbouring the known mutations, G238C, G460A, A719G or T681G, were nonfunctional and accounted for 0.5, 5.7, 0.8 and 0.3% of the allele totality, respectively. 3. Within the promoter region, six alleles corresponding to a variable number of tandem repeats (VNTR), were identified. VNTR*V4 and *V5a which harbour four or five repeats of a 17-18 bp unit, were the most frequent (55% and 34%, respectively). The other VNTR alleles, having from five to eight repeats, were rarer. 4. The TPMT phenotype was correctly predicted by genotyping for 87% of individuals. A clear negative correlation between the total number of repeats from both alleles and the TPMT activity level was observed, indicating that VNTRs contribute to interindividual variations of TPMT activity. Therefore, additional analysis of the promoter region of TPMT can improve the phenotype prediction rate by genotyping. 相似文献
64.
N. Radhakrishnan Nair N. M. Claramma N. M. Mathew Sabu Thomas S. Someswara Rao 《应用聚合物科学杂志》1995,55(5):723-731
The flow behavior of liquid natural rubber (LNR) with reference to the effect of molecular weight, shear rate, and temperature has been studied. LNR samples were prepared by thermal depolymerization of rubber (NR) through the combined effect of mechanical, chemical, and thermal energies. High molecular weight samples, especially at lower temperatures, showed pseudoplastic behavior, whereas the low molecular weight samples were Newtonian at all temperatures. The viscosity of LNR considerably decreases with increase in temperature. The activation energy of flow was also calculated. © 1995 John Wiley & Sons, Inc. 相似文献
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66.
Thin-film capacitors of erbium fluoride were fabricated by electron beam gun deposition. The current-voltage characteristics of the erbium fluoride films were studied in the temperature range 323 to 396 K. For sufficiently high electric fields (>104 V cm–1), the leakage current increases exponentially with the square root of the applied field. Analysis of the data suggests an electrode-limited mechanism such as that suggested by Schottky. It is seen that the conduction mechanism is an activated process with the activation energy decreasing with increasing field. 相似文献
67.
IM Robbins EV Colvin TP Doyle WE Kemp JE Loyd WS McMahon GN Kay 《Canadian Metallurgical Quarterly》1998,98(17):1769-1775
BACKGROUND: This report describes the complication of pulmonary vein stenosis with resultant severe pulmonary hypertension that developed in 2 patients after successful catheter ablation of chronic atrial fibrillation. METHODS AND RESULTS: Three months after successful catheter ablation of atrial fibrillation, both patients developed progressive dyspnea and pulmonary hypertension. Both were found to have severe stenosis of all 4 pulmonary veins near the junction with the left atrium. Balloon dilation of the stenotic pulmonary veins was performed in these patients, with improvement in dyspnea and pulmonary hypertension. CONCLUSIONS: The complication of pulmonary vein stenosis is potentially life-threatening, and the application of radiofrequency current within the pulmonary veins with standard catheter technology should be avoided. This complication can be treated with balloon dilation, although the long-term course is unknown. 相似文献
68.
LR Barot JL Rombeau TP Stein R Chernoff RG Settle JL Mullen 《Canadian Metallurgical Quarterly》1982,6(1):34-38
To establish an animal model for the controlled study of enteral nutrition by tube, five adult chair-adapted primates (Macaca fasicularis) had gastrostomy and jejunostomy tubes placed for the delivery of a modified protein isolate diet. Following 7 days of postoperative depletion with a hypocaloric infusion of dextrose (20 kcal, 0 g N/kg/day), the animals were repleted for 10 days with tube feedings (124 kcal, 0.73 g N/kg/day). There was no operative mortality or morbidity and each animal demonstrated conversion to anabolism by significant weight gain, positive nitrogen balance, and net protein synthesis as determined by [15N]glycine protein turnover rates. Significant correlation was found between caloric intake and nitrogen balance at the level of nitrogen provided in this diet (r = 0.88, p less than 0.05). This model was found to be well suited for the surgical and nutritional techniques required for the long-term study of enteral nutrition by tube. 相似文献
69.
K. R. Paramasivam M. Radhakrishnan C. Balasubramanian 《Journal of Materials Science》1981,16(5):1183-1186
The current-voltage characteristics of thin-film capacitors with evaporated terbium fluoride dielectric have been studied as a function of temperature (in the range 300 to 418 K). For sufficiently high electric fields (> 104 V cm–1, the leakage current is found to increase exponentially with the square root of the applied electric field. Analysis of the data suggests an electrode-limited mechanism such as that suggested by Schottky. It is seen that the conduction mechanism is an activated process with the activation energy decreasing with increasing field. Dielectric break-down and its dependence on film thickness have also been investigated. Break-down field strength follows the Forlani-Minnaja relation. 相似文献
70.