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31.
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. 总被引:2,自引:1,他引:1 下载免费PDF全文
F Giannelli P M Green S S Sommer M C Poon M Ludwig R Schwaab P H Reitsma M Goossens A Yoshioka G G Brownlee 《Nucleic acids research》1996,24(1):103-118
The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1380 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on factor IX activity, factor IX antigen in circulation and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated. 相似文献
32.
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. 总被引:2,自引:0,他引:2 下载免费PDF全文
E G Tuddenham R Schwaab J Seehafer D S Millar J Gitschier M Higuchi S Bidichandani J M Connor L W Hoyer A Yoshioka 《Nucleic acids research》1994,22(22):4851-4868
A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A. 相似文献
33.
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. 总被引:4,自引:0,他引:4 下载免费PDF全文
E G Tuddenham R Schwaab J Seehafer D S Millar J Gitschier M Higuchi S Bidichandani J M Connor L W Hoyer A Yoshioka 《Nucleic acids research》1994,22(17):3511-3533
A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A. 相似文献
34.
Katsunobu Yoshioka Nobuo Shimojo Toyofumi Nakanishi Keiichi Naka Kiyoshi Okuda 《Journal of chromatography. B, Analytical technologies in the biomedical and life sciences》1994,655(2)
A sensitive and specific method was developed for measuring medium-chain dicarboxylic acids (adipic and suberic acid) in urine. These acids were extracted from urine with diethyl ether and converted into fluorescent derivatives with 9-anthryldiazomethane, which can be separated by high-performance liquid chromatography. The reproducibility was high and the recovery from urine was above 90%. Urinary concentrations of adipic acid in streptozotocin-induced diabetic rats were significantly higher than those in control rats. In diabetic patients, both adipic acid and suberic acid tended to be high, but not significantly. This method should be useful for measuring dicarboxylic acids in urine 相似文献
35.
Tomohiro Ito Toui Yoshioka Hiromori Shimabukuro Gregory N. Nishihara Hikaru Endo Ryuta Terada 《Phycological Research》2023,71(1):25-36
The effect of temperature, light-spectrum, desiccation and salinity gradients on the photosynthesis of a Japanese subtidal brown alga, Sargassum macrocarpum (Fucales), was determined using a pulse amplitude modulation-chlorophyll fluorometer and dissolved oxygen sensors. Temperature responses of the maximum (Fv/Fm in darkness) and effective (ΔF/Fm′ at 50 μmol photons m−2 s−1; = ΦPSII) quantum yields during 6-day culture (4–36°C) remained high at 12–28°C, but decreased at higher temperatures. Nevertheless, ΔF/Fm′ also dropped at temperatures below 8°C, suggesting light sensitivity under chilling temperatures because Fv/Fm remained high. Photosynthesis–irradiance responses at 24°C under red (660 nm), green (525 nm), blue (450 nm) and white light (metal halide lamp) showed that maximum net photosynthesis under blue and white light was greater than under red and green light, indicating the sensitivity and photosynthetic availability of blue light in the subtidal light environment. In the desiccation experiment, samples under aerial exposure of up to 8 h under dim-light at 24°C and 50% humidity showed that ΔF/Fm′ quickly declined after more than 45 min of emersion; furthermore, ΔF/Fm′ also failed to recover to initial levels even after 1 day of rehydration in seawater. Under the emersion state, the ΔF/Fm′ remained high when the relative water content (RWC) was greater than 50%; in contrast, it quickly dropped when the RWC was less than 50%. When the RWC was reduced below 50%, ΔF/Fm′ did not return to initial levels, regardless of subsequent re-hydration, suggesting a low capacity of photosynthesis to recover from desiccation. The stenohaline response of photosynthesis under 3-day culture is evident, given that ΔF/Fm′ declined when salinity was beyond 20–40 psu. Adaptation to subtidal environments in temperate waters of Japan can be linked to these traits. 相似文献
36.
Shoichi Asano Toshio Matsuda Kazuhiro Takuma Hye Sun Kim Tomoaki Sato Takashige Nishikawa Akemichi Baba 《Journal of neurochemistry》1995,64(6):2437-2441
Abstract: The effects of nitric oxide (NO)-generating agents on 45 Ca2+ uptake in rat brain slices and cultured rat astrocytes were studied in the presence of monensin, which is considered to drive the Na+ -Ca2+ exchanger in the reverse mode. Sodium nitroprusside (SNP) at >10 µ M increased monensin-stimulated Ca2+ uptake in the slices, although it did not affect high K+ -stimulated Ca2+ uptake. Another NO donor, 3-morpholinosydnonimine, was effective. The effect of SNP was antagonized by hemoglobin (50 µ M ), a NO scavenger, and mimicked by 8-bromo-cyclic GMP (100 µ M ). In rat brain synaptosomes, SNP increased monensin-stimulated Ca2+ uptake, but it did not affect high K+ -stimulated Ca2+ uptake. 8-Bromocyclic GMP, but not SNP, increased Na+ -dependent Ca2+ uptake significantly in synaptic membrane vesicles in the absence of monensin. In cultured rat astrocytes, SNP and 8-bromo-cyclic GMP increased Ca2+ uptake in the presence of ouabain and monensin, which were required for the Ca2+ uptake in the cells. These findings suggest that NO stimulates the Na+ -Ca2+ exchanger in neuronal preparations and astrocytes in a cyclic GMP-dependent mechanism. 相似文献
37.
38.
T. Takizawa H. Fujii S. Takegawa K. Takahashi A. Hirono T. Morisaki H. Kanno R. Oka H. Yoshioka S. Miwa 《Human genetics》1984,68(1):70-72
Summary A new glucose 6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was discovered in Japan. The patient showed hemolytic crises after upper respiratory infections. The enzyme activity was about 3.8% of the normal. The partially purified enzyme revealed slow anodal electrophoretic mobility, high Km NADP, marked thermal-instability, and increased affinity for a substrate analogue (deamino-NADP). A particular characteristic of this enzyme was a biphasic pH curve with a greatly increased activity at low pH values. From these results, this variant was clearly different from hitherto observed G6PD variants, and was designated G6PD Asahikawa. 相似文献
39.
M. Tachibana H. Morioka M. Machino W. Oshima F. Mizukoshi O. Mizukoshi T. Yoshioka 《Histochemistry and cell biology》1984,81(2):157-160
Summary Triphosphoinositide (TPI) has been demonstrated to be a receptor for aminoglycosides in the cochlea and may regulate ionic permeability by its binding with Ca++. This phospholipid was localized by a protein A-gold technique in the cochlea at the electronmicroscopic level. TPI was prepared by a neomycin column and antibodies to it were raised in rabbits. The antibody used in this study reacted virtually only to TPI among the tested lipids. TPI was localized mainly at stereocilia, cuticular plates, head plates of Deiter's cells, plasma membrane, and mitochondria of various cells in the organ of Corti. In the vascular stria, TPI was found mainly at the plasma membrane of basal infoldings of the marginal cells. Possible physiological and pathophysiological roles of TPI in the cochlea are briefly discussed. 相似文献
40.
Immunological responses of hamsters in the acquired immune state to Mycoplasma pneumoniae infection 总被引:1,自引:0,他引:1
E Hayatsu Y Kawakubo M Yayoshi M Araake M Wakai A Yoshida M Yoshioka Y Nishiyama 《Microbiology and immunology》1981,25(12):1255-1263
Protective effects of vaccination of hamsters against Mycoplasma pneumoniae infection, evaluated according to the recovery of mycoplasmas and histopathological changes in the respiratory tract after challenge infection, persisted for at least 6 months after the final vaccination. Serum antibody levels reached a maximum in the second week after the last vaccination and decreased markedly between the first and the third months, but increased again in sera obtained from animals given booster injections. Metabolism-inhibiting antibodies were detected in bronchial washings of animals showing high resistance obtained by vaccinal or passive immunization. Antiserum transfer was also effective for protection but cell-mediated immune responses were not demonstrated in any animals up to 6 months after the vaccination. Even after 10 months, suppression of both mycoplasmal proliferation and lung lesions was apparent, and a single dose of the vaccine induced a significant booster effect. These findings suggest that (1) humoral immunity is more important than cell-mediated immunity in resistance of hamsters to M. pneumoniae pneumonia, and (2) the antibody secreted in the respiratory tract may be involved in the local defense mechanisms. 相似文献