维普期刊资源整合服务平台（V6.5）

维普中文期刊产品整合服务

13篇 您的检索式：作者名="Jan HJ"

选中清除导出查看参考文献查看引证文献引用追踪共1页首页上一页第1页下一页末页 /1 跳转

		题名	作者	年代	出处	被引量
	1	Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation显示文摘AIM To investigate the relation of two different mutations to the outcome of partial external biliary diversion(PEBD)in severe bile salt export pump(BSEP) deficiency.METHODS Mutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing. Native liver biopsies and transiently transfected human embryonic kidney(HEK) 293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization. Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatographytandem mass spectrometry. Wild-type and mutant BSEP transport of [~3H]-labeled taurocholate(TC) and taurochenodeoxycholate(TCDC) was assessed by vesicular transport assays.RESULTS A girl(at 2 mo) presented with pruritus, jaundice and elevated serum bile salts(BS). PEBD stabilized liver function and prevented liver transplantation. She was heterozygous for the BSEP deletion p.T919 del and the nonsense mutation p.R1235 X. At the age of 17 years relative amounts of conjugated BS in her bile were normal, while total BS were less than 3% as compared to controls. An unrelated boy(age 1.5 years) presenting with severe pruritus and elevated serum BS was heterozygous for the same nonsense and another missense mutation, p.G1032 R. PEBD failed to alleviate pruritus, eventually necessitating liver transplantation. BS concentration in bile was about 5% of controls. BS were mainly unconjugated with an unusual low amount of chenodeoxycholate derivatives(< 5%). The patients' native liver biopsies showed canalicular BSEP expression. Both BSEP p.T919 del and p.G1032 R were localized in the plasma membrane in HEK293 cells. In vitro transport assays showed drastic reduction of transport by both mutations. Using purified recombinant BSEP as quantifiable reference, per-molecule transport rates for TC and TCDC were determined to be 3 and 2 BS molecules per wild-type BSEP transporter per minute, respectively.CONCLUSION In summary, our findings suggest that residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of PEBD in progressive familial intrahepatic cholestasis type 2(PFIC-2).	Philipp Ellinger Jan Stindt Carola Droge Katharina Sattler Claudia Stross Stefanie Kluge Diran Herebian Sander HJ Smits Martin Burdelski Sebastian Schulz-Jürgensen Antje Ballauff Jan Schulte am Esch Ertan Mayatepek Dieter Haussinger Ralf Kubitz Lutz Schmitt	2017	World Journal of Gastroenterology2017，23，29：	4
	2	Nodal promotes growth and inva- sion in human gliomas 显示文摘	Lee CC Jan HJ Lai JH	2010	Oncogene2010，29，21：	1
	3	Nodal promotes growth and invasion in human gliomas 显示文摘	Lee CC Jan HJ Lai JH	2010	Oncogene2010，29，：	1
	4	Nodal promotes growth and invasion in human gliomas显示文摘	Lee CA Jan HJ Lai JH	2010	Oncogene2010，29，21：	1
	5	Towards safe, non-viral therapeutic gene expression in humans显示文摘	Glover DJ Lipps HJ Jans DA	2005	Nat Rev Genet2005，6，4：	1
	6	Rosiglitazone reduces cell invasiveness by inducing MKP-1 in human U87MG glioma cells显示文摘	Jan HJ Lee CC Lin YM	2009	Cancer Lett2009，277，2：	1
	7	Towards safe,non-viral therapeutic gene expression in humans显示文摘	Glover DJ Lipps HJ Jans DA	2005	Nat Rev Genet2005，6，4：	1
	8	Genome maintence mechanisms for preventing cancer 显示文摘	Jan HJ Hoeijmakers	2001	Nature2001，411，：	1
	9	Nodal promotes growth and invasion in human gliomas显示文摘	Lee CC Jan HJ Lai JH	2010	Oncogene2010，29，21：	1
	10	Osteopontin regulates human glioma cell invasiveness and tumor growth in mice显示文摘	Jan HJ Lee CC Shih YL	2010	Neuro Oncol2010，12，8：	1
	11	Nodal promotes growth and invasion in human gliomas显示文摘	Lee CC Jan HJ Lai JH	2010	Oncogene2010，29，21：	1
	12	Nodal promotes growth and invasion in human gliomas 显示文摘	Lee CC Jan HJ Lai JH	2010	Oncogene2010，29，21：	1
	13	Degradation Pathways and Efficiencies of Acid Blue 1 by Photocatalytic Reaction with ZnO Nanopowder显示文摘	Chen CC Fan HJ Jan JL	2008	Journal of Physical Chemistry C2008，112，11：	1

返回顶部每页显示：

共1页首页上一页第1页下一页末页 /1 跳转

goolge学术搜索-维普

网站首页 | 关于我们 | 联系我们 | 产品服务 | 客服中心 | 广告服务 | 版权声明 | 网站联盟 | 友情链接 | 售卡网点

版权所有© 渝B2-20050021-1　渝公网安备 50019002500403号　违法和不良信息举报中心

互联网出版许可证新出网证(渝)字10号全国400电话 - 免长途话费