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排序方式: 共有998条查询结果,搜索用时 109 毫秒
1.
Coronary artery bypass grafts: visualization with MR imaging 总被引:1,自引:0,他引:1
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Inhibition of the enzymes belonging to the family of glutathione S-transferases is important from several points of view. These involve applications in studies of the catalytic mechanism, e.g. studying the topology and binding characteristics of the active site. Also, from a therapeutic standpoint, inhibition of glutathione S-transferases steadily becomes more interesting, since these enzymes appear to be involved in drug resistance, and in the biosynthesis of a number of important arachidonic acid metabolites such as prostaglandins and leukotrienes. Modulation of the glutathione S-transferase activity could be used to regulate the concentrations of these compounds, Thirdly, unwanted inhibition by xenobiotics makes a cell more vulnerable for alkylating agents and can thus have toxic consequences. This review describes the state of the art, dealing with the various types of inhibiton employed (reversible, irreversible or nonsubstrate ligands). Furthermore, isoenzyme selectivity, organ distribution and interindividual differences are discussed. 相似文献
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Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2 总被引:6,自引:3,他引:3
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Localization of a gene for otosclerosis to chromosome 15q25-q26 总被引:5,自引:0,他引:5
Tomek MS; Brown MR; Mani SR; Ramesh A; Srisailapathy CR; Coucke P; Zbar RI; Bell AM; McGuirt WT; Fukushima K; Willems PJ; Van Camp G; Smith RJ 《Human molecular genetics》1998,7(2):285-290
Among white adults otosclerosis is the single most common cause of hearing
impairment. Although the genetics of this disease are controversial, the
majority of studies indicate autosomal dominant inheritance with reduced
penetrance. We studied a large multi- generational family in which
otosclerosis has been inherited in an autosomal dominant pattern. Five of16
affected persons have surgically confirmed otosclerosis; the remaining nine
have a conductive hearing loss but have not undergone corrective surgery.
To locate the disease- causing gene we completed genetic linkage analysis
using short tandem repeat polymorphisms (STRPs) distributed over the entire
genome. Multipoint linkage analysis showed that only one genomic region, on
chromosome 15q, generated a lod score >2.0. Additional STRPs were typed
in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and
D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis
gene.
相似文献
10.
Germinal mosaicism increases the recurrence risk for ''new'' Duchenne muscular dystrophy mutations. 总被引:18,自引:6,他引:18 下载免费PDF全文
E Bakker H Veenema J T Den Dunnen C van Broeckhoven P M Grootscholten E J Bonten G J van Ommen P L Pearson 《Journal of medical genetics》1989,26(9):553-559
In 288 Dutch and Belgian Duchenne and Becker muscular dystrophy families, the parental origin of 41 new deletion or duplication mutations was determined. Twenty seven of the new mutations occurred in the maternal X chromosome and nine in the grandmaternal and five in the grandpaternal X chromosome. The grandparental data are compatible with equal mutation rates for DMD in male and female X chromosomes. New mutations were defined by their presence in one or more progeny and absence in the lymphocytes of the mother or the grandparents. In one family a fraction of the maternal lymphocytes was found to carry the mutation, suggesting somatic mosaicism. In six cases out of 41, the mutation was transmitted more than once by a parent in whom the mutation was absent in lymphocytes, suggesting gonadal mosaicism as the explanation for the multiple transmission. Using our data for the recurrence of the mutations among the total of at risk haplotypes transmitted, we arrive at a recurrence risk of 14% for the at risk haplotype. The observation of this high risk of germinal mosaicism is crucially important for all physicians counselling females in DMD families. Recently, germinal mosaicism has been observed also in a number of other X linked and autosomal disorders. The implications and appropriate diagnostic precautions are discussed. 相似文献