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	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	Serum C-reactive protein concentration and lower urinary tract symptoms in older men in the third national health and nutrition examination survey (NHANES Ⅲ) 显示文摘	Rohrmann S De Marzo AM Smit E	2005	Prostate2005，62，：	1
3	Surgical/pathologicstage migration confounds comparisons of gastric cancer survival rates between Japan and Western countries 显示文摘	Bunt AM Hermans J Smit VT	1995	J Clin Oncol1995，13，1：	1
4	Consequences of vertebral deformities in older men and women显示文摘	Pluijm SM Tromp AM Smit JH	2000	J Bone Miner Res2000，15，：	1
5	Lactulose in the treatment of symptomatic diverticular disease: A comparative study with high-fibre diet 显示文摘	Smits B J Whitehead AM Prescott P	1990	Br J Clin Pract1990，44，：	1
6	Genetic alterations during colorectal-tumor development显示文摘	Vogelstein B Fearon ER Hamilton SR Kern SE Preisinger AC Leppert M Nakamura Y White R Smits AM Bos JL	1988	N Engl J Med1988，319，9：	1
7	The development of quali- ty indicators for the prevention and management of postpartum haemorrhage in primary midwifery care in the Netherlands显示文摘	Smit M Sin&am SI Woiski M	2013	BMC Pregnancy Childbirth2013，13，：	1
8	Improved antioxidant statusamong HIV-infected injecting drug users on potent antiretroviraltherapy显示文摘	Tang AM Smit E Semba RD	2000	J Acquir Immune Defic Syndr2000，23，4：	1
9	Bone-marrow-derived cells contribute to glomerular endothelial repair in experimental glomerulonephritis显示文摘	Rookmaaker MB Smits AM Tolboom H	2003	Am J Pathol2003，163，：	1
10	Consequences of verte- bral deformities in older men and women显示文摘	Pluijm SM Tromp AM Smit JH	2000	J Bone Miner Res2000，15，8：	1
11	Interactions of epileptiform EEG discharges and cognition显示文摘	Binnie CD Kasteleijn-Nolst Trenité DG Smit AM		0，，4：	1
12	Progenitor cells isolated from the human heart :a potential cell source for regenerative therapy显示文摘	van Vliet P Roccio M Smits AM	2008	Neth Heart J2008，16，2：	1
13	Cardiac gene expression profiling-the quest for an atrium-specific biomarker显示文摘	Maass AH de Jong AM Smit L	2010	Neth Heart J2010，18，：	1
14	The role of stem cells in cardiac regeneration显示文摘	Smits AM Van Vliet P Hassink RJ	2007	Cell Molmed2007，11，1：	1
15	Progenitor cells isolated from the human heart:a potential cell source for regenerative therapy显示文摘	van Vliet P Roccio M Smits AM	2008	Netherlands Heart J2008，16，：	1
16	Fall - risk screening test : A prospective study on predictors for falls in community - dwelling elderly 显示文摘	Tromp AM Pluijm SM Smit J H	2001	J Clin Epidemiol2001，54，8：	1
17	Keratinocytes control thepheo/eumelanin ratio in cultured normal human melanocytes显示文摘	Duval C Smit NP Kolb AM	2002	Pigment Cell Res2002，15，6：	1
18	Human cardiomyocyte progenitor cells differentiate into functional mature cardiomyocytes:an in vitro model for studying human cardiac physiology and pathophysiology显示文摘	Smits AM van Vliet P Metz CH	2009	Nat Protoc2009，4，2：	1
19	KRAS codon 12 mutations occur very frequently in pancreatic adenocarcinomas 显示文摘	Smit VT Boot AJ Smits AM	1988	ucleic Acids Res1988，16，16：	1
20	Keratinocytes control the pheo/eumelanin ratio in cultured normal human melanocytes 显示文摘	Dural C Smit NP Kolb AM	2002	Pigment Cell Res2002，15，6：	1

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