Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofi...Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.展开更多
Two series of perovskite-type oxides with composition (La_(1-x))Sr_xFeO_3(x≤0.8)and La_(1-x)Sr_xFe_(1-y)Co_yO_3(x=0.2; y=0.2, 0.4)powder productions were synthesized by EDTA complexing sol-gel method. The products we...Two series of perovskite-type oxides with composition (La_(1-x))Sr_xFeO_3(x≤0.8)and La_(1-x)Sr_xFe_(1-y)Co_yO_3(x=0.2; y=0.2, 0.4)powder productions were synthesized by EDTA complexing sol-gel method. The products were characterized by XRD, TEM, SEM, BET method(N_2 adsorption)and laser granularity analysis for different synthesis conditions to obtain the optimum conditions for the preparation process. Single-phased, uniform perovskite-type oxides with small particle size were obtained by EDTA sol-gel process with high stability and repeatability, and the process temperature is much lower than that of solid state reaction method.展开更多
探讨核因子Y(nuclear factor Y,NFY)和调节因子X1(regulatory factors that bind to the X box,RFX1)对人PNRC(proline-rich nuclear receptor coactivator)基因的调控作用及机制.根据凝胶电泳迁移率变化实验,分析NFY和RFX1与PNRC启动...探讨核因子Y(nuclear factor Y,NFY)和调节因子X1(regulatory factors that bind to the X box,RFX1)对人PNRC(proline-rich nuclear receptor coactivator)基因的调控作用及机制.根据凝胶电泳迁移率变化实验,分析NFY和RFX1与PNRC启动子区域的结合.将含有NFY和RFX1的真核表达质粒(pCMV-NFY,pCMV-RFX1)和含有PNRC启动子的荧光素酶报告基因质粒共转染HepG2细胞,检测转染细胞的荧光素酶活性,并用RT-PCR和Western印迹检测PNRC的表达情况.Quick-Change法对PNRC启动子区NFY和RFX1结合位点进行突变,将包含突变点的重组荧光素酶报告质粒与含有NFY和RFX1的真核表达质粒共同转染HepG2细胞,检测各组荧光素酶活性.结果发现,NFY和RFX1能与PNRC启动子区域特异性结合;转染pCMV-NFY和pCMV-RFX1可抑制PNRC启动子活性并下调PNRC在HepG2细胞中的表达;包含NFY和RFX1结合位点的突变质粒与pCMV-NFY和pCMV-RFX1共转染后,NFY和RFX1对PNRC启动子活性的抑制作用消失.以上结果提示,NFY和RFX1能调控PNRC基因的表达,其机制是与PNRC启动子区域的特异性结合位点相结合,发挥其反式抑制作用.展开更多
Growth and morphology of neodymium or ytterbium doped calcium gadolinium yttrium oxoborate (Re∶Ca 4Gd x Y 1- x O(BO 3) 3(Re∶GdYCOB)Re =Nd,Yb; x =0-1)were systematically studied. Polycrystalline materials used for Re...Growth and morphology of neodymium or ytterbium doped calcium gadolinium yttrium oxoborate (Re∶Ca 4Gd x Y 1- x O(BO 3) 3(Re∶GdYCOB)Re =Nd,Yb; x =0-1)were systematically studied. Polycrystalline materials used for Re∶GdYCOB single crystals growth were synthesized by multistage solid phase reaction method.Re∶GdYCOB single crystals were grown by Czochralski technique.The pulling rates are 0.5-2mm/h and the rotation rates are 10-30r/min.Usually 65-75% polycrystalline materials can be transformed into good quality single crystals under our growth conditions. The structures of some as grown Re∶GdYCOB single crystals were measured by using a four circle diffractometer.The results measured show that the space group of the crystals is C 3 s Cm.The determined lattice constants of 8 at% Nd doped Ca 4YO(BO 3) 3 single crystal are a =0.8076nm, b =1.6020nm, c =0.3527nm , β =101.23°.展开更多
基金This work was supported by the National Natural Science Foundation of China(No.30571677)the National Basic Research Program of China(973 Program)(No.2007CB512000).
文摘Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.
文摘Two series of perovskite-type oxides with composition (La_(1-x))Sr_xFeO_3(x≤0.8)and La_(1-x)Sr_xFe_(1-y)Co_yO_3(x=0.2; y=0.2, 0.4)powder productions were synthesized by EDTA complexing sol-gel method. The products were characterized by XRD, TEM, SEM, BET method(N_2 adsorption)and laser granularity analysis for different synthesis conditions to obtain the optimum conditions for the preparation process. Single-phased, uniform perovskite-type oxides with small particle size were obtained by EDTA sol-gel process with high stability and repeatability, and the process temperature is much lower than that of solid state reaction method.
文摘探讨核因子Y(nuclear factor Y,NFY)和调节因子X1(regulatory factors that bind to the X box,RFX1)对人PNRC(proline-rich nuclear receptor coactivator)基因的调控作用及机制.根据凝胶电泳迁移率变化实验,分析NFY和RFX1与PNRC启动子区域的结合.将含有NFY和RFX1的真核表达质粒(pCMV-NFY,pCMV-RFX1)和含有PNRC启动子的荧光素酶报告基因质粒共转染HepG2细胞,检测转染细胞的荧光素酶活性,并用RT-PCR和Western印迹检测PNRC的表达情况.Quick-Change法对PNRC启动子区NFY和RFX1结合位点进行突变,将包含突变点的重组荧光素酶报告质粒与含有NFY和RFX1的真核表达质粒共同转染HepG2细胞,检测各组荧光素酶活性.结果发现,NFY和RFX1能与PNRC启动子区域特异性结合;转染pCMV-NFY和pCMV-RFX1可抑制PNRC启动子活性并下调PNRC在HepG2细胞中的表达;包含NFY和RFX1结合位点的突变质粒与pCMV-NFY和pCMV-RFX1共转染后,NFY和RFX1对PNRC启动子活性的抑制作用消失.以上结果提示,NFY和RFX1能调控PNRC基因的表达,其机制是与PNRC启动子区域的特异性结合位点相结合,发挥其反式抑制作用.
文摘Growth and morphology of neodymium or ytterbium doped calcium gadolinium yttrium oxoborate (Re∶Ca 4Gd x Y 1- x O(BO 3) 3(Re∶GdYCOB)Re =Nd,Yb; x =0-1)were systematically studied. Polycrystalline materials used for Re∶GdYCOB single crystals growth were synthesized by multistage solid phase reaction method.Re∶GdYCOB single crystals were grown by Czochralski technique.The pulling rates are 0.5-2mm/h and the rotation rates are 10-30r/min.Usually 65-75% polycrystalline materials can be transformed into good quality single crystals under our growth conditions. The structures of some as grown Re∶GdYCOB single crystals were measured by using a four circle diffractometer.The results measured show that the space group of the crystals is C 3 s Cm.The determined lattice constants of 8 at% Nd doped Ca 4YO(BO 3) 3 single crystal are a =0.8076nm, b =1.6020nm, c =0.3527nm , β =101.23°.
