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31.
32.
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. 总被引:2,自引:1,他引:1
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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
33.
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
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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
34.
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
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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
35.
The genes that cause a variety of neurologic and neuromuscular disorders have been mapped to the distal region of Xq. In an effort to isolate genes from this area, a regional genomic library of the distal 30% of Xq was constructed from a single metaphase spread by means of laser microdissection and single unique primer-polymerase chain reaction. Using pooled probes of 1000 clones from the genomic library, human brain cDNA libraries were screened for expressed sequences encoded by this region. From the 250,000 cDNA clones screened so far, 10 nonoverlapping sequences that mapped back to the target portion were isolated. The complete nucleotide sequences of these cDNA clones have been determined. Analysis of the sequences indicates that none has significant similarity to previously characterized primate genes. One sequence mapping to Xq27.3-qter contained an open reading frame of 281 amino acids and was expressed in every tissue tested. This gene, as well as others isolated in this manner, may prove to be a candidate gene for heritable disorders mapping to this region. 相似文献
36.
Twenty-four weanling male Wistar rats were divided into four groups fed diets containing adequate or deficient levels of selenium
(0.5 ppm [+ Se] or <0.02 ppm [−Se] and protein (15% [+Pro] or 5% [−Pro]), but adequate levels of all other nutrients for 4
wk to determine the effects of Se deficiency and protein deficiency on tissue Se and glutathione peroxidase (GSHPx) activity
in rats. Plasma, heart, liver, and kidney Se and GSHPx were significantly lower in Se-deficient groups in relation to Se-sufficient
groups. In Se-deficient groups, Se and GSHPx were significantly higher in −Se−Pro rats in heart, liver, and kidney. Data analysis
showed that there were significant interaction effects between dietary Se and protein on Se and GSHPx of rats. It is assumed
that under the condition of Se deficiency. a low level of protein may decrease Se and GSHPx utilization, increase GSHPx synthesis,
and result in Se redistribution. This could account for high levels of Se and GSHPx in the −Se−Pro rats compared to −Se+Pro
rats. 相似文献
37.
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
38.
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
39.
We examined the effect of methionine deficiency on iodothyronine 5’-deiodinase activity in selenium-deficient rats or selenium-sufficient
rats fed sodium selenate or selenomethionine. Forty-two weanling male Wistar rats were divided into six groups and pair fed
the respective purifiedl-amino acid-based diets for 4 wk.l-methionine concentrations in the diet were 8.0 g/kg for sufficient rats, and 2.0 g/kg for deficient rats. Selenium concentrations
in the diet were 0.5 mg/kg (as sodium selenate or selenomethionine) for selenium-sufficient rats and less than 0.005 mg/kg
for selenium-deficient rats. Type I 5’-deiodinase activities were significantly lower in liver and higher in kidney of methionine-deficient
rats than in those of methionine-sufficient rats fed either the selenium-sufficient or the selenium-deficient diets. The type
I 5’-deiodinase activity in brain was significantly lower in the methionine-deficient rats than in the methionine-sufficient
rats fed the selenium-deficient diet. Type II 5’-deiodinase activity in brain was significantly higher in the methionine-deficient
rats than in the methionine-sufficient rats fed selenium-sufficient diet as sodium selenate. Both thyroxine and 3,3’,5-triiodothyronine
concentrations in plasma were significantly higher in the methionine-deficient rats than in the methionine-sufficient rats.
It is suggested that the methionine deficiency affects the 5’-deiodinase activity and thyroid hormones level in the rats. 相似文献
40.