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| 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 | Frequent aberrant methylation of the imprinted IGF2/H19 locus and LINE1hypomethylation in ovarian carcinoma显示文摘 | Reinhard Dammann Sebastian Kirsch Undraga Schagdarsurengin Temuujin Dansranjavin Elise Gradhand Wolfgang Schmitt Steffen Hauptmann | 2010 | International Journal of Oncology2010，，1： | 1 |
| 3 | Congenital anomalies of the coronary arteries: imaging with contrast-enhanced, multidetector computed tomography显示文摘 | Rainer Schmitt Steffen Froehner Juergen Brunn Matthias Wagner Horst Brunner Oleg Cherevatyy Frank Gietzen Georgios Christopoulos Sebastian Kerber Franz Fellner | | 0，，： | 1 |
| 4 | information theoretical probe selection for hybridisation experiments显示文摘 | Ralf Herwig Armin O Schmitt Matthias Steinfath John O'Brien Henrik Seidel Sebastian Meier- Ewert Hans Lehrach and Uwe Radelof | 2000 | Bioinformatics2000，16，10： | 1 |
| 5 | An uncommon cause of gastro-duodenal ulceration显示文摘Gastrointestinal ulcers occur frequently and are mainly caused by H pylori infection. In this report, we present a rare case of gastro-duodenal ulcer following selective internal radiation therapy (SIRT). SIRT is a palliative treatment for unresectable liver tumours. During SIRT, 90Y-microspheres are infused into the hepatic artery. Pre- treatment evaluation for the presence of arterial shunts to neighbouring organs should be determined in order to avoid complications of SIRT. | Sebastian Mallach Uwe Ramp Andreas Erhardt Marcus Schmitt Dieter Hussinger | 2008 | World Journal of Gastroenterology2008，14，16： | 1 |
| 6 | Molecular dynamics simulation of the Stribeck curve: Boundary lubrication, mixed lubrication, and hydrodynamic lubrication on the atomistic level显示文摘Lubricated contact processes are studied using classical molecular dynamics simulations for determining the entire range of the Stribeck curve.Therefore,the lateral movement of two solid bodies at different gap height are studied.In each simulation,a rigid asperity is moved at constant height above a flat iron surface in a lubricating fluid.Both methane and decane are considered as lubricants.The three main lubrication regimes of the Stribeck curve and their transition regions are covered by the study:Boundary lubrication(significant elastic and plastic deformation of the substrate),mixed lubrication(adsorbed fluid layer dominates the process),and hydrodynamic lubrication(shear flow is set up between the surface and the asperity).We find the formation of a tribofilm in which lubricant molecules are immersed into the metal surface—not only in the case of scratching,but also for boundary lubrication and mixed lubrication.The formation of a tribofilm is found to have important consequences for the contact process.Moreover,the two fluids are found to show distinctly different behavior in the three lubrication regimes:For hydrodynamic lubrication(large gap height),decane yields a better tribological performance;for boundary lubrication(small gap height),decane shows a larger friction coefficient than methane,which is due to the different mechanisms observed for the formation of the tribofilm;the mixed lubrication regime can be considered as a transition regime between the two other regimes.Moreover,it is found that the nature of the tribofilm depends on the lubricant:While methane particles substitute substrate atoms sustaining mostly the crystalline structure,the decane molecules distort the substrate surface and an amorphous tribofilm is formed. | Simon STEPHAN Sebastian SCHMITT Hans HASSE Herbert M.URBASSEK | 2023 | Friction2023，11，12： | 0 |
| 7 | Self-Optimizing Flexible Assembly Systems显示文摘 | Robert Schmitt Peter Loosen Christian Brecher Alberto Pavim Max Funck Valentin Morasch Alexander Gatej Nicolas Pyschny Sebastian Haag | 2011 | Computer Technology and Application2011，2，5： | 0 |
| 8 | 我国华北地区冬季的N2O5摄取系数显示文摘通过迭代盒子模型定量了北京冬季污染过程的N2O5摄取系数γ(N2O5),发现其均值远低于其他地区冬季.颗粒物中硝酸盐强烈抑制N2O5非均相摄取,有机物也存在一定的抑制作用,但是颗粒物含水量是促进摄取的重要因素.华北冬季颗粒物中硝酸盐浓度高,含水量低是γ(N2O5)较低的关键因素.经典的γ(N2O5)参数化方案存在系统性高估,在改进的参数化方案中综合考虑了颗粒物粒径分布差异、含水量、硝酸盐和有机物镀膜的影响之后,参数化方案的预测能力得到有效提高. | 王海潮 陈肖睿 陆克定 谭照峰 马雪飞 吴志军 李歆 刘禹含 尚冬杰 吴宇声 曾立民 胡敏 Sebastian Schmitt Astrid Kiendler-Scharr Andreas Wahner 张远航 | 2020 | Science Bulletin2020，65，9： | 0 |
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