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61.
62.
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms 总被引:6,自引:9,他引:6
Impaired expression of the FMR1 gene is responsible for the fragile X
mental retardation syndrome. The FMR1 gene encodes a cytoplasmic protein
with RNA-binding properties. Its complex alternative splicing leads to
several isoforms, whose abundance and specific functions in the cell are
not known. We have cloned in expression vectors, cDNAs corresponding to
several isoforms. Western blot comparison of the pattern of endogenous FMR1
proteins with these transfected isoforms allowed the tentative
identification of the major endogenous isoform as ISO 7 and of a minor band
as an isoform lacking exon 14 sequences (ISO 6 or ISO 12), while some other
isoforms (ISO 4, ISO 5) were not expressed at detectable levels.
Surprisingly, in immunofluorescence studies, the transfected splice
variants that exclude exon 14 sequences (and have alternate C-terminal
regions) were shown to be nuclear. Such differential localisation was
however not seen in subcellular fractionation studies. Analysis of various
deletion mutants suggests the presence of a cytoplasmic retention domain
encoded in exon 14 and of a nuclear association domain encoded within the
first eight exons that appear however to lack a typical nuclear
localisation signal.
相似文献
63.
64.
Autoimmunity in the pathogenesis of cardiomyopathy 总被引:3,自引:0,他引:3
65.
A new haplogroup pattern displayed in Fujian Han in China 总被引:1,自引:0,他引:1
Yu M Zhang Y Xue Y Chen F Wang Q Huang X Wang B Yu Y Liu A Ma L Shi R Lu F Shi Z Zhang Y Cheng W Ai Q Xu F Huang C Chen B Yang H Kang X Sun Y Zhang G Li P Fu S 《Journal of human genetics》2002,47(2):95-98
Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence
on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic
origin and immigration of the Fujian Han, 13 binary markers on the Y chromosome were used to screen Fujian Han by allele-specific
polymerase chain reaction. The results indicated that the M9G marker was highly prevalent (96.20%), suggesting a significant genetic drift. In addition, M122C frequency was only 22.78%, and M45A and M103T were default. The distinctive haplogroup frequencies (H1, H5, and H6/7/8) imply that the haplogroup pattern is a relatively ancestral and interim type.
Received: October 13, 2001 / Accepted: December 3, 2001 相似文献
66.
Fu W 《Zhonghua yi shi za zhi (Beijing, China : 1980)》1987,17(3):145-148
67.
68.
目的:探讨慢性乙型肝炎患者肝组织中FasL表达与血清可溶性FasL水平的关系。方法:用免疫组化方法检测60例慢性乙型肝炎患者肝穿组织FasL的表达,同时用酶联免疫吸附试验检测血清可溶性FasL。结果:重度慢性乙型肝炎患者血清中sFasL水平>中度>轻度,各组间差异有显著意义(P<0.01);慢性乙型肝炎患者肝组织FasL表达的程度和血清sFasL水平与肝组织病变的活动性一致。结论:(1)肝组织炎症程度加重,肝组织FasL抗原的表达增强,同时血清中sFasL水平升高;(2)Fas介导的肝细胞凋亡在慢性乙型肝炎的发病机制中起重要作用,抑制肝细胞Fas表达有助于减轻肝细胞损伤程度。 相似文献
69.
目的 探讨植物有效成分蜕皮甾酮(ecdysteron,EDS)对心肌梗死有益作用,并探讨其机制。方法 采用冠状动脉左前降支结扎致大鼠心肌梗死模型,ip EDS,连续7d。测定血清肌酸磷酸激酶(CPK)、谷草转氨酶(GOT)、乳酸脱氢酶(LDH)活性、心肌梗死面积、冠状动脉血清、毛细血管密度及血管内皮生长因子(VEGF)的表达量。结果 0.5,5,50mg/kgEDS能剂量能依赖地影响大鼠血清CPK、GOT、LDH活性,以5mg/kg剂量的EDS降低心肌酶谱为最佳。5mg/kgEDS能明显减少心肌梗死面积、增加冠状动脉血流量、毛细血管密度和VEGF表达量。结论 EDS能减轻冠状动脉结扎致心肌梗死,机制在于促进VEGF的表达和毛细血管再生及增加冠状动脉血流量。 相似文献
70.
激光焊接对金瓷结合的影响 总被引:2,自引:0,他引:2
OBJECTIVE: This study was aimed to investigate the bonding effect of laser welding on ceramic fused to metal. METHODS: Ten laser welded CW-PA ceramo-alloy rods were fused with porcelain at fusion zone. The porcelain-metal bond strength was measured with pull-through test. SEM examination and EDAX analysis were performed. Ten non-welded CW-PA ceramo-alloy pull-rod plates were used as comparison. RESULTS: The results showed that the bond strength of laser welded sample was 41.32 +/- 6.69 MPa, approaching to 45.71 +/- 9.98 MPa of the non-welded sample (P > 0.05). The microscope displayed the interface compacted union of the two phase boundary. There was no change in the elements and their ratio at the fusion zone. CONCLUSION: These results indicate that laser welding does not affect ceramic fused to metal. 相似文献