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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 | Nutrient profiling schemes: overview and comparative analysis显示文摘 | Marcella Garsetti Jan Vries Maurice Smith Amélie Amosse Nathalie Rolf-Pedersen | 2007 | European Journal of Nutrition2007，，2： | 2 |
| 3 | Heart Rate,Neuroendocrine, and Ira-munological Reactivity in Response to an Acute Laboratory Stressor显示文摘 | Mark RL Robert A Jan AM | 2001 | Psychosomatic Medicine2001，63，： | 1 |
| 4 | Initiation factor-independent translation mediated by the hepatitis C virus internal ribosome entry site显示文摘 | Lancaster AM Jan E Sarnow P | 2006 | RNA2006，12，： | 1 |
| 5 | Contemporary outcomes of primary percutaneous coronary intervention in Inert and womenfor acute ST segment elevation myocardial infarction:does gender still matter显示文摘 | Jan MF Hafiz AM Moil N | 2010 | J Am Coil Cardiol2010，55，： | 1 |
| 6 | Heart rate,neuroendochne,and immunological reactivity in response to an acute laboratory stressor显示文摘 | Mark RL Robet A Jan AM | 2001 | Psychosom Med2001，63，： | 1 |
| 7 | Heart Rate, Neuroendocrine and Immunnological Reactivity in Response to an Acute Laboratory Stressor 显示文摘 | Mark RL Robert A Jan AM | 2001 | Psychosomatic Medicine2001，63，： | 1 |
| 8 | POSA:Perl Objects for DNA Sequencing Data Analysis显示文摘 | Jan A Aerts Bart J Jungerious Martien AM Groenen | 2004 | BMC Genomics2004，5，1： | 1 |
| 9 | A Sereening study of sur-face stabilization during the Produetion of drugnanocrystals显示文摘 | Bernard VE Jan V Johan AM | 2009 | Journal of pharmaceutical scienees2009，98，6： | 1 |
| 10 | Transjugular intrahepatic portosystemic shunt-placement increases arginine/asymmetric dimethylarginine ratio in cirrhotic patients显示文摘AIM:To analyze the change of dimethylarginine plasma levels in cirrhotic patients receiving transjugular intrahepatic portosystemic shunt(TIPS).METHODS:To determine arginine,asymmetric dimethylarginine(ADMA),symmetric dimethylarginine(SDMA),and nitric oxide(NO) plasma levels,blood samples were collected from the superior cava,hepatic,and portal vein just before,directly after,and 3 mo after TIPS-placement.RESULTS:A significant increase in the arginine/ADMA ratio after TIPS placement was shown.Moreover,TIPS placement enhanced renal function and thereby decreased systemic SDMA levels.In patients with renal dysfunction before TIPS placement,both the arginine/ADMA ratio and creatinine clearance rate increased significantly,while this was not the case in patients with normal renal function before TIPS placement.Hepatic function did not change significantly after TIPS placement and no significant decline in ADMA plasma levels was measured.CONCLUSION:The increase of the arginine/ADMA ratio after TIPS placement suggests an increase in intracellular NO bioavailability.In addition,this study suggests that TIPS placement does not alter dimethylarginine dimethylaminohydrolase(DDAH) activity and confirms the major role of the liver as an ADMA clearing organ. | Michiel PC Siroen Reiner Wiest Milan C Richir Tom Teerlink Jan A Rauwerda Friedrich T Drescher Niels Zorger Paul AM van Leeuwen | 2008 | World Journal of Gastroenterology2008，14，47： | 1 |
| 11 | Mitochon- drial ATP synthase : architecture, function and pathology 显示文摘 | An I Jonckheere Jan AM Smeitink Richard JT Rodenburg | 2012 | J Inherit Metab Dis2012，35，2： | 1 |
| 12 | Heart rate, neuroendocrine and immunological reactivity in response to an acute laboratory stressor显示文摘 | Mark RL Robert A Jan AM | 2001 | Psychosonatic Med2001，63，3： | 1 |
| 13 | Treatment of peri-implantitis using an Er:YAG laser or an air-abrasive device:a randomized clinical trial显示文摘 | Renvert S Lindahl C Roos Jans(a)ker AM | 2011 | J Clin Periodontol2011，38，1： | 1 |
| 14 | Prevention of contrast - induced acute kidney injury in patients with stable chronic renal disease un-dergoing elective percutaneous coronary and peripheral interven- tions: Randomized comparison of two preventive strategies显示文摘 | Hafiz AM Jan MF Mori N | 2012 | Cath- eter Cardiovase Interv2012，79，： | 1 |
| 15 | An efficient system for high-level expression and easy purificationof authentic recombinant proteins 显示文摘 | Catanzariti AM Soboleva TA Jans DA | 2004 | Protein Sci2004，13，5： | 1 |
| 16 | Skeletal muscle fatty acid handling in insulin resistant men 显示文摘 | van Hees AM Jans A Hul GB | 2011 | Obesity2011，19，7： | 1 |
| 17 | Infusion of CD133+ Bone Marrow–Derived Stem Cells After Selective Portal Vein Embolization Enhances Functional Hepatic Reserves After Extended Right Hepatectomy: A Retrospective Single-Center Study显示文摘 | Jan Schulte am Esch Moritz Schmelzle Günther Fürst Simon C. Robson Andreas Krieg Constanze Duhme Roy Y. Tustas Andrea Alexander Hans M. Klein Stefan A. Topp Johannes G. Bode Dieter H?ussinger Claus F. Eisenberger Wolfram Trudo Knoefel | 2012 | Annals of Surgery2012，，1： | 1 |
| 18 | Hemizygous deletion of CTGF/CCN2 does not suffice to prevent fibrosis of the severely injured kidney显示文摘 | Lucas L. Falke Amélie Dendooven Jan Willem Leeuwis Tri Q. Nguyen Rob J. van Geest Dionne M. van der Giezen Roel Broekhuizen Karen Lyons Reinout Stoop Hans Kemperman Reinier Schlingemann Jaap A. Joles Roel Goldschmeding | 2012 | Matrix Biology (-)2012，，7： | 1 |
| 19 | Treatment of peri-implantitis using an Er:YAG laser or an air-abrasive device:a ran-domized clinical trial显示文摘 | Renvert S Lindahl C Roos Jansker AM | 2011 | J Clin Periodontol2011，38，1： | 1 |
| 20 | Applications of developmental epidemiological data linkage methodology to examine early risk for childhood disability显示文摘 | SANDRA CR BEVERLY AM JAN W | 2000 | Developmental Review2000，20，： | 1 |
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