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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	Food craving and food 'addiction':a critical review of the evidence from a biopsychosocial perspective显示文摘	ROGERS PJ SMIT HJ	2000	Pharmacol Biochem Behav2000，66，1：	1
3	Surgical resection for small cell carcinoma of the lung: a retrospective study显示文摘	Groen HJ Timens W	1994	Thorax1994，49，1：	1
4	A drink of water can improveor impair mental performance depending on smalldifferences in thirst 显示文摘	Rogers PJ Kainth A Smit HJ	2001	Appetite2001，36，：	1
5	Est rogen signaling through t he t ransmembrane G protein - coupled receptor GPR30 显示文摘	Prossnitz ER Arterburn JB Smit h HO Oprea TI Sklar L A Hat ha- way HJ	2008	Annu Rev Physio12008，70，：	1
6	Dual inhibitionof EGFR with afatinib and cetuximab in kinase inhibitor-resistant EGFR-mutant lung cancer with and withoutT790M mutations 显示文摘	Janjigian YY Smit EF Groen HJ	2014	Cancer Discov2014，4，9：	1
7	Does ACE inhibition limit structural changes in the heart following myocardial infarction显示文摘	Smits JF Passier RC Nelissen-Vrancken HJ	1995	Eur Heart J1995，16，：	1
8	Machine perfusion or cold storage in deceased - donor kidney transplantation显示文摘	Moers C Smits JM Maathuis M - HJ	2009	N Engl J Med2009，360，1：	1
9	Hematologic espects of cardiotomy suction in cardiac operation 显示文摘	De Jong JCF Ten Duis HJ Smit Sibrga CT	1990	J Thorac Cardiovasc Surg1990，79，：	1
10	Determinants of pulmonary perfusion measured by electrical impedance tomography显示文摘	Smit HJ Noordegraaf AV Marcus JT	2004	Eur J Appl Physiol2004，92，12：	1
11	Dual inhibition of EGFR with afatinib and cetuximab in kinase inhibitor-resistant EGFR-mutant lung cancer with and without T790M mutations显示文摘	Janjigian YY Smit EF Groen HJ	2014	Cancer Discov2014，4，9：	1
12	Dual inhibition of EGFR with afatinib and eetuximab in kinase inhibitor-resistant EGFR- mutant lung cancer with and ithout T790M mutations显示文摘	Janjigian YY Smit EF Groen HJ	2014	Cancer Diseov2014，4，10：	1
13	Atopy and new-onset asthma in young Danish farmers and CD14,TLR2,and TLR4 genetic polymorphisms:a nested case-control study显示文摘	Smit LA Bongers SI Ruven HJ		0，，：	1
14	Diabetic cardiomyopathy in uncomplicated type 2 diabetes is associated with the metabolic syndrome and sYstemic inflammation 显示文摘	Diamant M Lamb HJ Smit JW	2005	Diabetologia2005，48，8：	1
15	Dual inhibitionof EGFR with afatinib and cetuximab in kinase inhibitor-resistantEGFR mutant lung cancer with and ithout T790M mutations显示文摘	JANJIGIAN YY SMIT EF GROEN HJ	2014	Cancer Discov2014，4，9：	1
16	Comparison of techniques for estimating herbage intake of grazing dairy cows显示文摘	Smit HJ Taweel HZ Tas BM Tamminga S Elgersma A		0，，：	1
17	Dual inhibition of EGFR with afatinib and eetuximab in kinase inhibitor-resistant EGFR-mutant lung cancer with and without T790M mutations显示文摘	Janjigian YY Smit EF Groen HJ	2014	Cancer Discov2014，4，9：	1
18	High-efficiency transformation and gene inactivation in Streptococcus suis type 2显示文摘	Smit HE Wisselink HJ Vecht U Gielkens AL Smits MA		0，，1：	1
19	Six months of recombinant human GH therapy in patients with ischemic cardiac failure does not influence left ventricular function and mass显示文摘	Smit JW Janssen YJ Lamb HJ	2001	J Clin Endocrinol Metab2001，86，10：	1
20	The application of the spacecharge model to the permeability propertities of charged microporous membranes显示文摘	Hijinen HJ M Van Daalen J Smit J A M	1983	J Colloid Sci1983，107，2：	1

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