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排序方式: 共有378条查询结果,搜索用时 0 毫秒
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Adverse reaction to intravenous gadoteridol 总被引:1,自引:0,他引:1
4.
Intestinal schistosomiasis japonica: CT-pathologic correlation 总被引:1,自引:0,他引:1
Lee RC; Chiang JH; Chou YH; Rubesin SE; Wu HP; Jeng WC; Hsu CC; Tiu CM; Chang T 《Radiology》1994,193(2):539
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Gene conversion is a likely cause of mutation in PKD1 总被引:3,自引:0,他引:3
Watnick TJ; Gandolph MA; Weber H; Neumann HP; Germino GG 《Human molecular genetics》1998,7(8):1239-1243
Approximately 70% of the gene responsible for the most common form of
autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in
several highly homologous copies located more proximally on chromosome 16.
We recently have described a novel technique for mutation detection in the
duplicated region of PKD1 that circumvents the difficulties posed by these
homologs. We have used this method to identify two patients with a nearly
identical cluster of base pair substitutions in exon 23. Since pseudogenes
are known to be reservoirs for mutation via gene conversion events for a
number of other diseases, we decided to test whether these sequence
differences in PKD1 could have arisen as a result of this mechanism. Using
changes in restriction digest patterns, we were able to show that these
sequence substitutions are also present in N23HA, a rodent-human somatic
cell hybrid that contains only the PKD1 homologs. Moreover, these changes
were also detected in total DNA from several affected and unaffected
individuals that did not harbor this mutation in their PKD1 gene copy. This
is the first example of gene conversion in PKD1 , and our findings
highlight the importance of using gene-specific reagents in defining PKD1
mutations.
相似文献
7.
Jonathan T. Sims Venkatesh Krishnan Ching-Yun Chang Sarah M. Engle Giacomo Casalini George H. Rodgers Nicoletta Bivi Brian J. Nickoloff Robert J. Konrad Stephanie de Bono Richard E. Higgs Robert J. Benschop Silvia Ottaviani Anabela Cardoso Ajay Nirula Mario Corbellino Justin Stebbing 《The Journal of allergy and clinical immunology》2021,147(1):107-111
8.
Two types of phantoms were developed with which to evaluate the overall performance of digital subtraction angiography (DSA) systems. A dynamic phantom, called a "fish bone" phantom, consists of polyethylene tubes that simulate blood vessels with various lesions, such as stenoses, ulcers, and aneurysms. With this phantom, washout curves were obtained representing the relationship between iodine content and time. It will be useful for qualitative assessment of DSA images, evaluation of different image-processing schemes, and studies of blood flow analysis. A static phantom, called a "C-D" phantom, can be used for measurement of quantitative contrast-detail (C-D) diagrams and for daily monitoring of DSA systems. This was constructed of tubes of seven different diameters (2.15-0.28 mm) and 14 different concentrations of contrast medium (100%-1.1% Renografin-76 [meglumine and sodium diatrizoate]). The C-D diagrams were determined from an observer performance study using C-D phantom images obtained at four different DSA settings. 相似文献
9.
Toxicokinetics of soman: species variation and stereospecificity in elimination pathways 总被引:1,自引:0,他引:1
Blood levels of the four stereoisomers of the nerve agent C(+/-)P(+/-)-soman were analyzed gas chromatographically in anaesthetized, artificially respirated and atropinized rats, guinea pigs and marmosets at intravenous doses of C(+/-)P(+/-)-soman corresponding with 1-6 LD50. The relatively nontoxic C(+/-)P(+/-)-isomers disappear within a few minutes from the blood stream of all three species, whereas the levels of the highly toxic C(+/-)P(-)-isomers remain toxicologically relevant for periods of 50-100 min in three species of doses of 2-3 LD50. Elimination pathways were quantified using 14C-labeled soman stereoisomers. Whereas the C(+/-)P(+)-isomers are largely eliminated by way of enzymatic hydrolysis, the major elimination pathway for the C(+/-)P(-)-isomers is binding to various proteins, in competition with binding to target acetylcholinesterase. Intraspecies nonlinearity with dose in the toxicokinetics of the C(+/-)P(-)-isomers is related to heterogeneous reactivity of the binding sites. Interspecies nonlinearity is probably due to decreasing amounts of binding sites in the order rats greater than guinea pigs greater than primates, leading to increasing "toxico-availability" in the reversed order. 相似文献
10.
Reactivation of electric eel acetylcholinesterase (AChE) inhibited by MeO(NH2)P(O)SMe (methamidophos) and by MeS(NH2)P(O)SMe was studied at pH 7.5 and 25° C. The former inhibited enzyme shows a rather rapid spontaneous reactivation (t1/2=3.7 h); this reactivation is accelerated by 1 M of the bispyridinium oximes TMB4 and obidoxime, and, to a lesser extent, by the monopyridinium oximes P2S and its 1-benzyl analogue (benzyl-P2A). The latter inhibited enzyme shows rapid aging (t1/2=0.6 h). Reactivation with 1 mM of the bispyridinium oximes is incomplete and reactivation with 1 mM of the monopyridinium oximes proceeds very slowly. These large differences between the properties of the two inhibited enzymes indicate that the methylthio group is the leaving group during inhibition of AChE by methamidophos. Additional support is afforded by the observation of induced aging of the former inhibited enzyme by thiourea.Upon comparison of the reactivation of AChE inhibited by methamidophos with that of AChE inhibited by an N-methyl analogue, cruf ornate, and an N,N-dimethyl analogue, tabun, it appears that the rate of spontaneous reactivation decreases with increasing alkylation of the P-NH2 group. Whereas benzyl-P2A is somewhat less active than P2S for reactivation of AChE inhibited by methamidophos, it is superior to P2S for reactivation of AChE inhibited by crufomate and also superior to P2S and to the bispyridinium oximes for AChE inhibited by tabun. 相似文献