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排序方式: 共有782条查询结果,搜索用时 359 毫秒
81.
C. L. Maslen D. Babcock D. R. Illingworth 《Journal of inherited metabolic disease》1995,18(5):620-623
Summary Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders,
both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13).
We have identified compound heterozygous mutations in a family with two siblings affected with CESD. Molecular genetic analysis
revealed two mutations one of which has previously been seen only in Wolman disease. Analysis of these mutations acting in
concert provides new insight into the correlation of genotype with phenotype in these allelic disorders. 相似文献
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采用全细胞及细胞贴附式斑片钳技术记录自发性高血压大鼠(SHR)和Wistar-Kyoto对照鼠(WKY)培养主动脉平滑肌细胞的Ca~(2+)-依赖性外向K~+电流[I_(k(Ca))],测定肌浆网Ca~(2+)泵抑制剂CPA对其影响.CPA能增加I_K(Ca))单通道开放时间,缩短关闭时间,增加全细胞I_(K(Ca))幅度,这些作用与Ca~(2+)相关并可被K~+通道阻断药glybenclamide阻断。CPA作用在SHR和WKY之间无明显差异。结果提示高血压状态下血管平滑肌的功能改变可能与I_(K(Ca))无关。 相似文献
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Axons Containing the Growth Associated Protein GAP-43 Specifically Target Rat Corticotrophs Following Adrenalectomy 总被引:1,自引:0,他引:1
Charles M. Paden Cheyenne Babcock Karrie A. Conner Dang Khoa T. Duong & Jason M. Kuhl 《Journal of neuroendocrinology》1998,10(9):693-699
An extensive network of nerve fibers immunoreactive for the neuronal growth associated protein GAP-43 (GAP-43-IR) is present within the anterior pituitary (AP) of the rat, and the density of these fibers has been reported to increase 4 days after adrenalectomy (ADX). In the present study, we employed confocal dual-label immunofluorescence microscopy to determine whether GAP-43-IR fibers are specifically associated with corticotrophs at various intervals after ADX. A dramatic increase in the density of GAP-43-IR was apparent 4 days after ADX, and this increase was sustained at 7 and 14 days post-ADX. The percentage of corticotrophs in apparent contact with GAP-43-IR axons was 87% at 4 days after ADX and 92% at 14 days. In addition, fewer than 15% of GAP-43-IR terminals were associated with cells other than corticotrophs in either group. This highly specific targeting of corticotrophs during a period in which these cells are undergoing both hypertrophy and hyperplasia indicates that axonal sprouting is occurring in response to ADX. While the less intense GAP-43-IR in the AP of intact rats precluded precise quantitative analysis, the majority of corticotrophs also appeared to be selectively innervated in these animals. The observations that GAP-43-IR axons selectively contact corticotrophs, and that both the specificity and thoroughness of innervation are maintained by targeted growth of GAP-43-IR axons following ADX, strongly suggest that these fibers are of functional significance. 相似文献
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ARTHUR T.H. TAN BERNARD K.H. EE P.K. MAH MAURICE H.H. CHOO B.L. CHIA 《Pacing and clinical electrophysiology : PACE》1981,4(6):645-648
We report a case of familial sinus node disease with associated conduction abnormalities in the atrioventricular node and distal conduction system Spontaneous atrial pacemaker activity was absent though the atrium could be depolarized. The pacemaker activity of the heart resided in the atrioventricular junction. The AV node showed impaired automaticity and abnormal conduction properties which partially improved after vagal blockage. 相似文献
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Adrenal Corticosteroid-Induced Renal Cystic Disease in the Newborn Hamster 总被引:2,自引:2,他引:0
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R. B. Filmer F. A. Carone R. G. Rowland J. R. Babcock 《The American journal of pathology》1973,72(3):461-472
A new model of renal cystic disease was developed in newborn Syrian hamsters by the repeated injection of 9-fluoroprednisolone acetate (9-FPA), a long-acting adrenal corticosteroid. Kidneys harvested from the tenth to the fourteenth day of age showed diffuse cystic dilatation of nearly all cortical convoluted tubules. Microdissection revealed that cystic changes primarily involved proximal convoluted tubules and, to a lesser degree, the distal tubules. Electron microscopy showed immaturity of development and varying degrees of degeneration of the cells of the proximal convoluted tubule. Intraluminal obstruction was not detected and therefore could not account for the cystic changes. Analysis of electrolytes in serum and selected tissues showed a significant reduction in potassium and sodium of serum, and significant depletion of potassium, magnesium and calcium in the skeletal muscle. Thus, there was no direct relationship between an electrolyte deficiency and the cystic changes. 相似文献
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