215 results on '"Marschall, H. -U."'
Search Results
2. Letter: ileal bile acid transporter inhibition– is there a potential for drug–drug interaction? Authorsʼ reply
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Marschall, H.-U., Gillberg, P.-G., Rikner, L., and Graffner, H.
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- 2016
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3. The ileal bile acid transporter inhibitor A4250 decreases serum bile acids by interrupting the enterohepatic circulation
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Graffner, H., Gillberg, P.-G., Rikner, L., and Marschall, H.-U.
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- 2016
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4. Rifampicin in the treatment of intrahepatic cholestasis of pregnancy: O1.2
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Geenes, V, Chambers, J, Khurana, R, Wikstrom-Shemer, E, Sia, W, Mandair, D, Elias, E, Marschall, H-U, Hague, W, and Williamson, C
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- 2015
5. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy
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Dixon, P.H., van Mil, S.W.C., Chambers, J., Strautnieks, S., Thompson, R.J., Lammert, F., Kubitz, R., Keitel, V., Glantz, A., Mattsson, L.-A., Marschall, H.-U., Molokhia, M., Moore, G.E., Linton, K.J., and Williamson, C.
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Cholestasis -- Genetic aspects ,Cholestasis -- Risk factors ,Cholestasis -- Demographic aspects ,Cholestasis -- Research ,Jaundice, Obstructive -- Genetic aspects ,Jaundice, Obstructive -- Risk factors ,Jaundice, Obstructive -- Demographic aspects ,Jaundice, Obstructive -- Research ,Pregnancy, Complications of -- Genetic aspects ,Pregnancy, Complications of -- Risk factors ,Pregnancy, Complications of -- Research ,Allelomorphism -- Identification and classification ,Genetic variation -- Research ,Health - Published
- 2009
6. European Guideline on IgG4-related digestive disease - UEG and SGF evidence-based recommendations
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Lohr, J. -M., Beuers, U., Vujasinovic, M., Alvaro, D., Frokjaer, J. B., Buttgereit, F., Capurso, G., Culver, E. L., De-Madaria, E., Della-Torre, E., Detlefsen, S., Dominguez-Mu~noz, E., Czubkowski, P., Ewald, N., Frulloni, L., Gubergrits, N., Duman, D. G., Hackert, T., Iglesias-Garcia, J., Kartalis, N., Laghi, A., Lammert, F., Lindgren, F., Okhlobystin, A., Oracz, G., Parniczky, A., Mucelli, R. M. P., Rebours, V., Rosendahl, J., Schleinitz, N., Schneider, A., van Bommel, E. F. H., Verbeke, C. S., Vullierme, M. P., Witt, H., Besselink, M. G., Bruno, M. J., Czako, L., Chiaro, M., Filippova, O., Fukuda, A., Gaujoux, S., Hart, P. A., Hegyi, P., Jonas, E., Kahraman, A., Kleger, A., Kuryata, O., Laukkarinen, J., Lerch, M. M., Marchegiani, G., Marschall, H. -U., Matos, C., Molad, Y., Oguz, D., Pukitis, A., Satoi, S., Stone, J. H., Verheij, J., Vries, N., Lohr, J-Matthias, Beuers, Ulrich, Vujasinovic, Miroslav, Alvaro, Domenico, Frokjaer, Jens Brondum, Buttgereit, Frank, Capurso, Gabriele, Culver, Emma L., De-Madaria, Enrique, Della-Torre, Emanuel, Detlefsen, Sonke, Dominguez-Munoz, Enrique, Czubkowski, Piotr, Ewald, Nils, Frulloni, Luca, Gubergrits, Natalya, Duman, Deniz Guney, Hackert, Thilo, Iglesias-Garcia, Julio, Kartalis, Nikolaos, Laghi, Andrea, Lammert, Frank, Lindgren, Fredrik, Okhlobystin, Alexey, Oracz, Grzegorz, Parniczky, Andrea, Mucelli, Raffaella Maria Pozzi, Rebours, Vinciane, Rosendahl, Jonas, Schleinitz, Nicolas, Schneider, Alexander, van Bommel, Eric F. H., Verbeke, Caroline Sophie, Vullierme, Marie Pierre, Witt, Heiko, Besselink, Marc G., Bruno, Marco J., Czako, Laszlo, del Chiaro, Marco, Filippova, Oleksandra, Fukuda, Akihisa, Gaujoux, Sebastien, Hart, Phil A., Hegyi, Peter, Jonas, Eduard, Kahraman, Alisan, Kleger, Alexander, Kuryata, Olexander, Laukkarinen, Johanna, Lerch, Markus M., Marchegiani, Giovanni, Marschal, Hanns-Ulrich, Matos, Celso, Molad, Yair, Oguz, Dilek, Pukitis, Aldis, Satoi, Sohei, Stone, John H., Verheij, Joanne, de Vries, Niek, KKÜ, Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Löhr, Jm, Beuers, U, Vujasinovic, M, Alvaro, D, Frøkjær, Jb, Buttgereit, F, Capurso, G, Culver, El, de-Madaria, E, DELLA TORRE, E, Detlefsen, S, Dominguez-Muñoz, E, Czubkowski, P, Ewald, N, Frulloni, L, Gubergrits, N, Duman, Dg, Hackert, T, Iglesias-Garcia, J, Kartalis, N, Laghi, A, Lammert, F, Lindgren, F, Okhlobystin, A, Oracz, G, Parniczky, A, Mucelli, Rmp, Rebours, V, Rosendahl, J, Schleinitz, N, Schneider, A, van Bommel, Ef, Verbeke, C, Vullierme, Mp, Witt, H, and UEG guideline working, Group.
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Abdominal pain ,IMMUNOGLOBULIN G4-RELATED DISEASE ,SERUM IGG4 LEVELS ,Medizin ,Disease ,RC799-869 ,Severity of Illness Index ,immune-related cholangitis ,Serology ,0302 clinical medicine ,LONG-TERM OUTCOMES ,Prednisone ,Drug Dosage Calculations ,Child ,other organ involvement ,STEROID-THERAPY ,INTERNATIONAL-CONSENSUS ,Evidence-Based Medicine ,glucocorticoids ,Gastroenterology ,Induction Chemotherapy ,IgG4-related ,Diseases of the digestive system. Gastroenterology ,PRIMARY SCLEROSING CHOLANGITIS ,TYPE-1 AUTOIMMUNE PANCREATITIS ,CONSENSUS DIAGNOSTIC-CRITERIA ,Europe ,Treatment Outcome ,Oncology ,030220 oncology & carcinogenesis ,diabetes mellitus ,030211 gastroenterology & hepatology ,medicine.symptom ,digestive ,autoimmune pancreatitis type 1 ,Glucocorticoid ,Immunosuppressive Agents ,medicine.drug ,Adult ,medicine.medical_specialty ,Digestive System Diseases ,biomarkers ,cancer ,disease ,Maintenance Chemotherapy ,03 medical and health sciences ,Internal medicine ,Diabetes mellitus ,medicine ,Humans ,FINE-NEEDLE-ASPIRATION ,Dose-Response Relationship, Drug ,business.industry ,EMISSION TOMOGRAPHY/COMPUTED TOMOGRAPHY ,Body Weight ,Editorials ,Cancer ,Guideline ,medicine.disease ,business - Abstract
Frulloni, Luca/0000-0001-7417-2655; Hart, Phil/0000-0003-4346-6196; Capurso, Gabriele/0000-0002-0019-8753; de-Madaria, Enrique/0000-0002-2412-9541; Lohr, Matthias/0000-0002-7647-198X; Frokjaer, Jens Brondum/0000-0001-8722-0070 WOS:000542363500001 PubMed: 32552502 The overall objective of these guidelines is to provide evidence-based recommendations for the diagnosis and management of immunoglobulin G4 (IgG4)-related digestive disease in adults and children. IgG4-related digestive disease can be diagnosed only with a comprehensive work-up that includes histology, organ morphology at imaging, serology, search for other organ involvement, and response to glucocorticoid treatment. Indications for treatment are symptomatic patients with obstructive jaundice, abdominal pain, posterior pancreatic pain, and involvement of extra-pancreatic digestive organs, including IgG4-related cholangitis. Treatment with glucocorticoids should be weight-based and initiated at a dose of 0.6-0.8 mg/kg body weight/day orally (typical starting dose 30-40 mg/day prednisone equivalent) for 1 month to induce remission and then be tapered within two additional months. Response to initial treatment should be assessed at week 2-4 with clinical, biochemical and morphological markers. Maintenance treatment with glucocorticoids should be considered in multi-organ disease or history of relapse. If there is no change in disease activity and burden within 3 months, the diagnosis should be reconsidered. If the disease relapsed during the 3 months of treatment, immunosuppressive drugs should be added. National Societies Committee of the United European Gastroenterology (UEG) We gratefully acknowledge the support from the National Societies Committee of the United European Gastroenterology (UEG) for the conduct of these guidelines independent from other sources. No other funding was received.
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- 2020
7. Hep27, a member of the short-chain dehydrogenase/reductase family, is an NADPH-dependent dicarbonyl reductase expressed in vascular endothelial tissue
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Shafqat, N., Shafqat, J., Eissner, G., Marschall, H. -U., Tryggvason, K., Eriksson, U., Gabrielli, F., Lardy, H., Jörnvall, H., and Oppermann, U.
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- 2006
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8. Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene
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Wasmuth, H.E., Glantz, A., Keppeler, H., Simon, E., Bartz, C., Rath, W., Mattsson, L.-A., Marschall, H.-U., and Lammert, F.
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Cholestasis -- Research ,Cholestasis -- Health aspects ,Cholestasis -- Risk factors ,Jaundice, Obstructive -- Research ,Jaundice, Obstructive -- Health aspects ,Jaundice, Obstructive -- Risk factors ,Gene mutations -- Research ,Gene mutations -- Health aspects ,Pregnancy -- Research ,Pregnancy -- Health aspects ,Health - Published
- 2007
9. Follow-up magnetic resonance imaging/3D-magnetic resonance cholangiopancreatography in patients with primary sclerosing cholangitis: challenging for experts to interpret
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Zenouzi, R., Liwinski, T., Yamamura, J., Weiler-Normann, C., Sebode, M., Keller, S., Lohse, A. W., Schramm, C., Aabakken, L., Arrivé, L., Bowlus, C. L., Bungay, H., van Buuren, H. R., Cardinale, V., Carey, E. J., Chazouillères, O., Cheung, A., Culver, E. L., Dufour, J. F., Dumonceau, J. M., Eaton, J. E., Eddowes, P. J., Färkkilä, M., Floreani, A., Franceschet, I., Hohenester, S. D., Kemmerich, G., Krawczyk, M., Zimmer, V., Lenzen, H., Levy, C., Marschall, H. U., Marzioni, M., Motta, R., Muratori, L., Pereira, S. P., Poley, J. W., Rimola, J., Ringe, K. I., Rushbrook, S., Simpson, B. W., Schrumpf, E., Spina, J. C., Terziroli Beretta-Piccoli, B., Trauner, M., Tringali, A., Venkatesh, S. K., Vesterhus, M., Villamil, A., Weismüller, T. J., Ytting, H., Zenouzi, R., Liwinski, T., Yamamura, J., Weiler-Normann, C., Sebode, M., Keller, S., Lohse, A.W., Schramm, C., Aabakken, L., Arrivé, L., Bowlus, C.L., Bungay, H., van Buuren, H.R., Cardinale, V., Carey, E.J., Chazouillères, O., Cheung, A., Culver, E.L., Dufour, J.F., Dumonceau, J.M., Eaton, J.E., Eddowes, P.J., Färkkilä, M., Floreani, A., Franceschet, I., Hohenester, S.D., Kemmerich, G., Krawczyk, M., Zimmer, V., Lenzen, H., Levy, C., Marschall, H.U., Marzioni, M., Motta, R., Muratori, L., Pereira, S.P., Poley, J.W., Rimola, J., Ringe, K.I., Rushbrook, S., Simpson, B.W., Schrumpf, E., Spina, J.C., Terziroli Beretta-Piccoli, B., Trauner, M., Tringali, A., Venkatesh, S.K., Vesterhus, M., Villamil, A., Weismüller, T.J., Ytting, H., Culver, E, and Gastroenterology & Hepatology
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Adult ,Liver Cirrhosis ,Male ,medicine.medical_specialty ,Cirrhosis ,Cholangiopancreatography, Magnetic Resonance ,Cholangitis, Sclerosing ,Constriction, Pathologic ,Primary sclerosing cholangitis ,Cholangiocarcinoma ,Diagnosis, Differential ,03 medical and health sciences ,Imaging, Three-Dimensional ,0302 clinical medicine ,Surveys and Questionnaires ,Image Interpretation, Computer-Assisted ,medicine ,Humans ,Pharmacology (medical) ,In patient ,Expert Testimony ,Cholangiopancreatography, Endoscopic Retrograde ,Magnetic resonance cholangiopancreatography ,Endoscopic retrograde cholangiopancreatography ,Hepatology ,medicine.diagnostic_test ,business.industry ,Elevated total bilirubin ,Gastroenterology ,Reproducibility of Results ,Magnetic resonance imaging ,Middle Aged ,medicine.disease ,Bile Ducts, Intrahepatic ,Bile Duct Neoplasms ,030220 oncology & carcinogenesis ,Female ,030211 gastroenterology & hepatology ,Clinical Competence ,Radiology ,Bilirubin levels ,business ,Follow-Up Studies - Abstract
Background: In patients with primary sclerosing cholangitis follow‐up magnetic resonance imaging (MRI) with magnetic resonance cholangiopancreatography (MRCP) is performed by many centres, particularly for the early detection of biliary malignancies and strictures. Clinically meaningful MRI‐based definitions of primary sclerosing cholangitis related complications are, however, lacking.Aim: To investigate how primary sclerosing cholangitis experts interpret follow‐up MRI/MRCP with a focus on conclusions that may impact clinical decision‐making in primary sclerosing cholangitis.Methods: Within the International Primary Sclerosing Cholangitis Study Group, an online survey on 16 real‐life primary sclerosing cholangitis cases including clinical and biochemical information as well as a T2‐weighted liver MRI/3D‐MRCP was conducted. The interpretation of images and subsequent recommendations were assessed using a multiple‐choice questionnaire. An inter‐rater reliability calculation (Fleiss′ kappa) was performed and factors potentially affecting the interpretation of magnetic resonance images were analysed using generalised linear mixed‐effect models.Results: Forty‐four members/associates of the International Primary Sclerosing Cholangitis Study Group (median experience in the care of primary sclerosing cholangitis patients: 14 years) completed the survey. The MRI interpretation significantly varied among the participants. The lowest agreement was found with respect to the indication to perform subsequent endoscopic retrograde cholangiopancreatography (ERCP; Κ = 0.12, 95%CI 0.11‐0.14). Elevated total bilirubin was the variable with the strongest effect on the rate of suspected dominant strictures, cholangiocarcinoma or ERCP recommendations. Liver cirrhosis did not prevent participants from recommending ERCP. Overall, the survey participants′ recommendations contrasted the real‐life management and outcome.Conclusions: In primary sclerosing cholangitis, the interpretation of follow‐up MRI/3D‐MRCP significantly varies even among experts and seems to be primarily affected by bilirubin levels. Generally accepted MRI‐based definitions of primary sclerosing cholangitis‐related complications are urgently needed.
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- 2018
10. Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria
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Wahlin, S., Marschall, H.-U., and Fischler, B.
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- 2013
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11. Intrahepatic cholestasis of pregnancy and associated adverse pregnancy and fetal outcomes: a 12-year population-based cohort study
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Shemer, Wikström E, Marschall, H U, Ludvigsson, J F, and Stephansson, O
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- 2013
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12. Side-chain modification as critical determinant of the therapeutic properties of 24-norursodeoxycholic acid in Mdr2 (Abcb4) knockout mice
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Halilbasic, E., primary, Fickert, P., additional, Fiorotto, R., additional, Marschall, H. U., additional, Moustafa, T., additional, Fuchsbichler, A., additional, Gumhold, J., additional, Silbert, D., additional, Langner, C., additional, Maitra, U., additional, Denk, H., additional, Strazzabosco, M., additional, and Trauner, M., additional
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- 2009
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13. The role of ABCB11 (BSEP) variation in susceptibility to intrahepatic cholestasis of pregnancy
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Dixon, P. H., primary, van Mil, S., additional, Strautnieks, S., additional, Thompson, R., additional, Lammert, F., additional, Kubitz, R., additional, Keitel, V., additional, Glantz, A., additional, Mattsson, L. -Å., additional, Marschall, H. -U., additional, Molokhia, M., additional, and Williamson, C., additional
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- 2009
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14. Intrahepatic cholestasis of pregnancy – a candidate gene study
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Dixon, P H, Wadsworth, C, Chambers, J, Donnelly, J, Cooley, S, Jarvis, S, Kubitz, R, Lammert, F, Marschall, H-U, Glantz, A, Khan, S, Whittaker, J, Geary, M, and Williamson, C
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- 2011
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15. Improved survival after allogeneic haematopoietic stem cell transplantation in recent years: P646
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Ringden, O., Ackefors, M., Berglund, S., Blennow, O., Dahllof, G., Dlugosz, A., Garming-Legert, K., Gertow, J., Gustafsson, B., Hassan, M., Hassan, Z., Hauzenberger, D., Hagglund, H., Karlsson, H., Klingspor, L., Kumlien, G., Le Blanc, K., Ljungman, P., Machaczka, M., Marschall, H.-U., Mattsson, J., Olsson, R., Omazic, B., Sairafi, D., Schaffer, M., Svahn, B.-M., Svenberg, P., Swartling, L., Szakos, A., Uhlin, M., Uzunel, M., Watz, E., Wernerson, A., Wikman, A., Wikstrom, A.-C., Winiarski, J., and Remberger, M.
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- 2011
16. Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype
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Katsika, D., Magnusson, P., Krawczyk, M., Grünhage, F., Lichtenstein, P., Einarsson, C., Lammert, F., and Marschall, H.-U.
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- 2010
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17. Enzymatic quantification of total serum bile acids as a monitoring strategy for women with intrahepatic cholestasis of pregnancy receiving ursodeoxycholic acid treatment: a cohort study.
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Manna, LB, Ovadia, C, Lövgren‐Sandblom, A, Chambers, J, Begum, S, Seed, P, Walker, I, Chappell, LC, Marschall, H‐U, Williamson, C, Manna, L B, Lövgren-Sandblom, A, Chappell, L C, and Marschall, H-U
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BILE acids ,URSODEOXYCHOLIC acid ,LIQUID chromatography-mass spectrometry ,CHOLIC acid ,CHENODEOXYCHOLIC acid ,CHOLESTASIS ,COMPARATIVE studies ,GASTROINTESTINAL agents ,LIVER function tests ,LONGITUDINAL method ,RESEARCH methodology ,MEDICAL cooperation ,PREGNANCY complications ,RESEARCH ,EVALUATION research ,TREATMENT effectiveness - Abstract
Objective: To evaluate enzymatic total serum bile acid quantification as a monitoring strategy for women with intrahepatic cholestasis of pregnancy (ICP) treated with ursodeoxycholic acid (UDCA).Design: Cohort.Setting: One UK university hospital.Population: 29 ICP cases treated with UDCA.Methods: Serial samples were collected prospectively throughout gestation. Total serum bile acids were measured enzymatically and individual bile acids by high-performance liquid chromatography-tandem mass spectrometry. Data were log-transformed and analysed with random effects generalised least square regression.Main Outcome Measures: The relationship between enzymatic total bile acid measurements and individual bile acid concentrations after UDCA treatment.Results: In untreated women, cholic acid was the principal bile acid (51%) and UDCA concentrations were <0.5%, whereas UDCA constituted 60% (IQR 43-69) of serum bile acids following treatment and cholic acid fell to <20%. Changes in the total bile acid measurement reflected similar alterations in the concentrations of the pathologically elevated bile acids, e.g. a two-fold increase in enzymatic total bile acids is accompanied by approximately a two-fold increase in cholic acid and chenodeoxycholic acid at most UDCA doses (P < 0.001). Most of the effects of UDCA on cholic acid occur in the first week of treatment (60% relative reduction, P = 0.025, 95% CI 0.2-0.9, from 10 micromol/l (4.7-17.6) to 3.5 micromol/l (1.4-7.5).Conclusion: Ursodeoxycholic acid becomes the main component of the bile acid measurement after treatment. Enzymatic total bile acid assays are good predictors of both cholic acid and chenodeoxycholic acid, the primary bile acids that are raised prior to treatment.Tweetable Abstract: Ursodeoxycholic acid constitutes approximately 60% of the bile acid measurement and reduces pathological cholic acid in treated women. [ABSTRACT FROM AUTHOR]- Published
- 2019
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18. Germline selection shapes human mitochondrial DNA diversity
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Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, Attwood, A, Brown, M, Brod, NC, Crisp-Hihn, A, Davis, J, Deevi, SVV, Dewhurst, EF, Edwards, K, Erwood, M, Fox, J, Frary, AJ, Hu, F, Jolley, J, Kingston, N, Linger, R, Mapeta, R, Martin, J, Meacham, S, Papadia, S, Rayner-Matthews, PJ, Samarghitean, C, Shamardina, O, Simeoni, I, Staines, S, Staples, E, Stark, H, Stephens, J, Titterton, C, Von Ziegenweidt, J, Watt, C, Whitehorn, D, Wood, Y, Yates, K, Yu, P, James, R, Ashford, S, Penkett, CJ, Stirrups, KE, Bariana, T, Lentaigne, C, Sivapalaratnam, S, Westbury, SK, Allsup, DJ, Bakchoul, T, Biss, T, Boyce, S, Collins, J, Collins, PW, Curry, NS, Downes, K, Dutt, T, Erber, WN, Evans, G, Everington, T, Favier, R, Gomez, K, Greene, D, Gresele, P, Hart, D, Kazmi, R, Kelly, AM, Lambert, M, Madan, B, Mangles, S, Mathias, M, Millar, C, Obaji, S, Peerlinck, K, Roughley, C, Schulman, S, Scully, M, Shapiro, SE, Sibson, K, Sims, MC, Tait, RC, Talks, K, Thys, C, Toh, C-H, Van Geet, C, Westwood, J-P, Mumford, AD, Ouwehand, WH, Freson, K, Laffan, MA, Tan, RYY, Harkness, K, Mehta, S, Muir, KW, Hassan, A, Traylor, M, Drazyk, AM, Parry, D, Ahmed, M, Kazkaz, H, Vandersteen, AM, Ormondroyd, E, Thomson, K, Dent, T, Buchan, RJ, Bueser, T, Carr-White, G, Cook, S, Daniels, MJ, Harper, AR, Ware, JS, Dixon, PH, Chambers, J, Cheng, F, Estiu, MC, Hague, WM, Marschall, H-U, Vazquez-Lopez, M, Arno, G, French, CE, Michaelides, M, Moore, AT, Sanchis-Juan, A, Carss, K, Raymond, FL, Chinnery, PF, Griffiths, P, Horvath, R, Hudson, G, Jurkute, N, Pyle, A, Yu-Wai-Man, P, Whitworth, J, Adlard, J, Armstrong, R, Brewer, C, Casey, R, Cole, TRP, Evans, DG, Greenhalgh, L, Hanson, HL, Hoffman, J, Izatt, L, Kumar, A, Lalloo, F, Ong, KR, Park, S-M, Searle, C, Side, L, Snape, K, Woodward, E, Tischkowitz, M, Grozeva, D, Kurian, MA, Themistocleous, AC, Gosal, D, Marshall, A, Matthews, E, McCarthy, MI, Renton, T, Rice, ASC, Vale, T, Walker, SM, Woods, CG, Thaventhiran, JE, Allen, HL, Savic, S, Alachkar, H, Antrobus, R, Baxendale, HE, Browning, MJ, Buckland, MS, Cooper, N, Edgar, JDM, Egner, W, Gilmour, KC, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Hayman, G, Herwadkar, A, Huissoon, AP, Jolles, S, Kelleher, P, Kumararatne, D, Longhurst, H, Lorenzo, LE, Lyons, PA, Maimaris, J, Noorani, S, Richter, A, Sargur, RB, Sewell, WAC, Thomas, D, Thomas, MJ, Worth, A, Yong, PFK, Kuijpers, TW, Thrasher, AJ, Levine, AP, Sadeghi-Alavijeh, O, Wong, EKS, Cook, HT, Chan, MMY, Hall, M, Harris, C, McAlinden, P, Marchbank, KJ, Marks, S, Maxwell, H, Mozere, M, Wessels, J, Johnson, SA, Bleda, M, Hadinnapola, C, Haimel, M, Swietlik, E, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P, Danesino, C, Eyries, M, Gall, H, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Holden, S, Houweling, A, Howard, LS, Humbert, M, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A, Pepke-Zaba, J, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, M, Treacy, C, Trembath, R, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Wilkins, MR, Wort, SJ, Graf, S, Louka, E, Roy, NB, Rao, A, Ancliff, P, Babbs, C, Layton, DM, Mead, AJ, O'Sullivan, J, Okoli, S, Saleem, M, Bierzynska, A, Diz, CB, Colby, E, Ekani, MN, Satchell, S, Fowler, T, Rendon, A, Scott, R, Smedley, D, Thomas, E, Caulfield, M, Abbs, S, Burrows, N, Chitre, M, Gattens, M, Gurnell, M, Kelsall, W, Poole, KES, Ross-Russell, R, Spasic-Boskovic, O, Twiss, P, Wagner, A, Banka, S, Clayton-Smith, J, Douzgou, S, Abulhoul, L, Aurora, P, Bockenhauer, D, Cleary, M, Dattani, M, Ganesan, V, Pilkington, C, Rahman, S, Shah, N, Wedderburn, L, Compton, CJ, Deshpande, C, Fassihi, H, Haque, E, Josifova, D, Mohammed, SN, Robert, L, Rose, SJ, Ruddy, DM, Sarkany, RN, Sayer, G, Shaw, AC, Campbell, C, Gibson, K, Koelling, N, Lester, T, Nemeth, AH, Palles, C, Patel, S, Sen, A, Taylor, J, Tomlinson, IP, Malka, S, Browning, AC, Burn, J, De Soyza, A, Graham, J, Pearce, S, Quinton, R, Schaefer, AM, Wilson, BT, Wright, M, Simpson, M, Syrris, P, Bradley, JR, Turro, E, ARD - Amsterdam Reproduction and Development, AII - Inflammatory diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, Medical Research Council (MRC), Wellcome Trust, Wei, Wei [0000-0002-2945-3543], Tuna, Salih [0000-0003-3606-4367], Smith, Katherine R [0000-0002-0329-5938], Beales, Phil L [0000-0002-9164-9782], Bennett, David L [0000-0002-7996-2696], Gale, Daniel P [0000-0002-9170-1579], Brennan, Paul [0000-0003-1128-6254], Elliott, Perry [0000-0003-3383-3984], Floto, R Andres [0000-0002-2188-5659], Houlden, Henry [0000-0002-2866-7777], Koziell, Ania [0000-0003-4882-0246], Maher, Eamonn R [0000-0002-6226-6918], Markus, Hugh S [0000-0002-9794-5996], Morrell, Nicholas W [0000-0001-5700-9792], Newman, William G [0000-0002-6382-4678], Sayer, John A [0000-0003-1881-3782], Smith, Kenneth GC [0000-0003-3829-4326], Taylor, Jenny C [0000-0003-3602-5704], Watkins, Hugh [0000-0002-5287-9016], Webster, Andrew R [0000-0001-6915-9560], Wilkie, Andrew OM [0000-0002-2972-5481], Penkett, Christopher J [0000-0003-4006-7261], Stirrups, Kathleen E [0000-0002-6823-3252], Rendon, Augusto [0000-0001-8994-0039], Bradley, John R [0000-0002-7774-8805], Turro, Ernest [0000-0002-1820-6563], Chinnery, Patrick F [0000-0002-7065-6617], and Apollo - 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0301 basic medicine ,Non-Mendelian inheritance ,Genome ,Mitochondrial/genetics ,DNA, Mitochondrial/genetics ,0302 clinical medicine ,Ovum/growth & development ,MTDNA ,TRANSCRIPTION ,Genetics ,education.field_of_study ,Multidisciplinary ,NIHR BioResource–Rare Diseases ,ASSOCIATION ,Heteroplasmy ,Mitochondrial ,Multidisciplinary Sciences ,GENOME ,REPLACEMENT ,Science & Technology - Other Topics ,Female ,Maternal Inheritance ,Mitochondrial DNA ,General Science & Technology ,Genetic genealogy ,Population ,Biology ,Human mitochondrial genetics ,SEQUENCE ,DNA, Mitochondrial ,03 medical and health sciences ,Genetic ,100,000 Genomes Project–Rare Diseases Pilot ,Genetic variation ,MD Multidisciplinary ,Humans ,Selection, Genetic ,education ,Selection ,Ovum ,Science & Technology ,MUTATIONS ,Genetic Variation ,DNA ,LEIGH-DISEASE ,030104 developmental biology ,REPLICATION ,Genome, Mitochondrial ,HETEROPLASMY ,030217 neurology & neurosurgery - Abstract
INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population genetic evidence indicates that selection shapes the evolving mtDNA phylogeny. The mechanism and timing of this process are not clear. Unlike the nuclear genome, mtDNA is maternally transmitted and there are many copies in each cell. Initially, a new genetic variant affects only a proportion of the mtDNA (heteroplasmy). During female germ cell development, a reduction in the amount of mtDNA per cell causes a “genetic bottleneck,” which leads to rapid segregation of mtDNA molecules and different levels of heteroplasmy between siblings. Although heteroplasmy is primarily governed by random genetic drift, there is evidence of selection occurring during this process in animals. Yet it has been difficult to demonstrate this convincingly in humans. RATIONALE To determine whether there is selection for or against heteroplasmic mtDNA variants during transmission, we studied 12,975 whole-genome sequences, including 1526 mother–offspring pairs of which 45.1% had heteroplasmy affecting >1% of mtDNA molecules. Harnessing both the mtDNA and nuclear genome sequences, we then determined whether the nuclear genetic background influenced mtDNA heteroplasmy, validating our findings in another 40,325 individuals. RESULTS Previously unknown mtDNA variants were less likely to be inherited than known variants, in which the level of heteroplasmy tended to increase on transmission. Variants in the ribosomal RNA genes were less likely to be transmitted, whereas variants in the noncoding displacement (D)–loop were more likely to be transmitted. MtDNA variants predicted to affect the protein sequence tended to have lower heteroplasmy levels than synonymous variants. In 12,975 individuals, we identified a correlation between the location of heteroplasmic sites and known D-loop polymorphisms, including the absence of variants in critical sites required for mtDNA transcription and replication. We defined 206 unrelated individuals for which the nuclear and mitochondrial genomes were from different human populations. In these individuals, new population-specific heteroplasmies were more likely to match the nuclear genetic ancestry than the mitochondrial genome on which the mutations occurred. These findings were independently replicated in 654 additional unrelated individuals. CONCLUSION The characteristics of mtDNA in the human population are shaped by selective forces acting on heteroplasmy within the female germ line and are influenced by the nuclear genetic background. The signature of selection can be seen over one generation, ensuring consistency between these two independent genetic systems.
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19. Large expert-curated database for benchmarking document similarity detection in biomedical literature search
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Santos, M. Saudemont, A. Sava, G. Schrading, S. Schramm, A. Schreiber, M. Schuler, S. Schymkowitz, J. Sczyrba, A. Seib, K.L. Shi, H.-P. Shimada, T. Shin, J.-S. Shortt, C. Silveyra, P. Skinner, D. Small, I. Smeets, P.A.M. So, P.-W. Solano, F. Sonenshine, D.E. Song, J. Southall, T. Speakman, J.R. Srinivasan, M.V. Stabile, L.P. Stasiak, A. Steadman, K.J. Stein, N. Stephens, A.W. Stewart, D.I. Stine, K. Storlazzi, C. Stoynova, N.V. Strzalka, W. Suarez, O.M. Sultana, T. Sumant, A.V. Summers, M.J. Sun, G. Tacon, P. Tanaka, K. Tang, H. Tanino, Y. Targett-Adams, P. Tayebi, M. Tayyem, R. Tebbe, C.C. Telfer, E.E. Tempel, W. Teodorczyk-Injeyan, J.A. Thijs, G. Thorne, S. Thrift, A.G. Tiffon, C. Tinnefeld, P. Tjahjono, D.H. Tolle, F. Toth, E. Del Tredici, A.L. Tsapas, A. Tsirigotis, K. Turak, A. Tzotzos, G. Udo, E.E. Utsumi, T. Vaidyanathan, S. Vaillant, M. Valsesia, A. Vandenbroucke, R.E. Veiga, F.H. Vendrell, M. Vesk, P.A. Vickers, P. Victor, V.M. Villemur, R. Vohl, M.-C. Voolstra, C.R. Vuillemin, A. Wakelin, S. Waldron, L. Walsh, L.J. Wang, A.Y. Wang, F. Wang, Y. Watanabe, Y. Weigert, A. Wen, J.-C. Wham, C. White, E.P. Wiener, J. Wilharm, G. Wilkinson, S. Willmann, R. Wilson, C. Wirth, B. Wojan, T.R. Wolff, M. Wong, B.M. Wu, T.-W. Wuerbel, H. Xiao, X. Xu, D. Xu, J.W. Xu, J. Xue, B. Yalcin, S. Yan, H. Yang, E.-C. Yang, S. Yang, W. Ye, Y. Ye, Z.-Q. Yli-Kauhaluoma, J. Yoneyama, H. Yu, Y. Yuan, G.-C. Yuh, C.-H. Zaccolo, M. Zeng, C. Zevnik, B. Zhang, C. Zhang, L. Zhang, Y. Zhang, Y. Zhang, Z. Zhang, Z.-Y. Zhao, Y. Zhou, M. Zuberbier, T. Aanei, C.M. Ahmad, R. Al-Lawama, M. Alanio, A. Allardyce, J. Alonso-Caneiro, D. Atack, J.M. Baier, D. Bansal, A. Benezeth, Y. Berbesque, C. Berrevoet, F. Biedermann, P.H.W. Bijleveld, E. Bittner, F. Blombach, F. van den Bos, W. Boudreau, S.A. Bramoweth, A.D. Braubach, O. Cai, Y. Campbell, M. Cao, Z. Catry, T. Chen, X. Cheng, S. Chung, H.-J. Chávez-Fumagalli, M.A. Conway, A. Costa, B.M. Cyr, N. Dean, L.T. Denzel, M.S. Dlamini, S.V. Dudley, K.J. Dufies, M. Ecke, T. Eckweiler, D. Eixarch, E. El-Adawy, H. Emmrich, J.V. Eustace, A.J. Falter-Wagner, C.M. Farhoudi, R. Fuss, J. Gao, J. Gill, M.R. Gloyn, L. Goggs, R. Govinden, U. Greene, G. Greiff, V. Grundle, D.S. Grüneberg, P. Gumede, N. Haore, G. Harrison, P. Hoenner, X. Hojsgaard, D. Hori, H. Ikonomopoulou, M.P. Jeurissen, P. Johnson, D.M. Kabra, D. Kamagata, K. Karmakar, C. Kasian, O. Kaye, L.K. Khan, M.M. Kim, Y.-M. Kish, J.K. Kobold, S. Kohanbash, G. Kohls, G. Kugler, J.-M. Kumar, G. Lacy-Colson, J. Latif, A. Lauschke, V.M. Li, B. Lim, C.J. Liu, F. Liu, X. Lu, J.-J. Lu, Q. Mahavadi, P. Marzocchi, U. McGarrigle, C.A. van Meerten, T. Min, R. Moal, I. Molari, M. Molleman, L. Mondal, S.R. van de Mortel, T. Moss, W.N. Moultos, O.A. Mukherjee, M. Nakayama, K. Narayan, E. Navaratnarajah Neumann, P.-A. Nie, J. Nie, Y. Niemeyer, F. Nolan, F. Nwaiwu, O. Oldenmenger, W.H. Olumayede, E. Ou, J. Pallebage-Gamarallage, M. Pearce, S.P. Pelkonen, T. Pelleri, M.C. Pereira, J.L. Pheko, M. Pinto, K.A. Piovesan, A. Pluess, M. Podolsky, I.M. Prescott, J. Qi, D. Qi, X. Raikou, V.D. Ranft, A. Rhodes, J. Rotge, J.-Y. Rowe, A.D. Saggar, M. Schuon, R.A. Shahid, S. Shalchyan, V. Shirvalkar, P. Shiryayev, O. Singh, J. Smout, M.J. Soares, A. Song, C. Srivastava, K. Srivastava, R.K. Sun, J. Szabo, A. Szymanski, W. Tai, C.N.P. Takeuchi, H. Tanadini-Lang, S. Tang, F. Tao, W. Theron, G. Tian, C.F. Tian, Y.-S. Tuttle, L.M. Valenti, A. Verlot, P. Walker, M. Wang, J. Welter, D. Winslade, M. Wu, D. Wu, Y.-R. Xiao, H. Xu, B. Xu, J. Xu, Z. Yang, D. Yang, M. Yankilevich, P. You, Y. Yu, C. Zhan, J. Zhang, G. Zhang, K. Zhang, T. Zhang, Y. Zhao, G. Zhao, J. Zhou, X. Zhu, Z. Ajani, P.A. Anazodo, U.C. Bagloee, S.A. Bail, K. Bar, I. Bathelt, J. Benkeser, D. Bernier, M.L. Blanchard, A.M. Boakye, D.W. Bonatsos, V. Boon, M.H. Bouboulis, G. Bromfield, E. Brown, J. Bul, K.C.M. Burton, K.J. Butkowski, E.G. Carroll, G. Chao, F. Charrier, E.E. Chen, X. Chen, Y.-C. Chenguang Choi, J.R. Christoffersen, T. Comel, J.C. Cosse, C. Cui, Y. van Dessel, P. Dhaval Diodato, D. Duffey, M. Dutt, A. Egea, L.G. El-Said, M. Faye, M. Fernandez-Fernandez, B. Foley, K.G. Founou, L.L. Fu, F. Gadelkareem, R.A. Galimov, E. Garip, G. Gemmill, A. Gouil, Q. Grey, J. Gridneva, Z. Grothe, M.J. Grébert, T. Guerrero, F. Guignard, L. Haenssgen, M.J. Hasler, D. Holgate, J.Y. Huang, A. Hulse-Kemp, A.M. Jean-Quartier, C. Jeon, S.-M. Jia, Y. Jutzeler, C. Kalatzis, P. Karim, M. Karsay, K. Keitel, A. Kempe, A. Keown, J.R. Khoo, C.M. Khwaja, N. Kievit, R.A. Kosanic, S. Koutoukidis, D.A. Kramer, P. Kumar, D. Kiraǧ, N. Lanza, G. Le, T.D. Leem, J.W. Leightley, D. Leite, A. Lercher, L. Li, Y. Lim, R. Lima, L.R.A. Lin, L. Ling, T. Liu, Y. Liu, Z. Lu, Y. Lum, F.M. Luo, H. Machhi, J. Macleod, A. Macwan, I. Madala, H.R. Madani, N. de Maio, N. Makowiecki, K. Mallinson, D.J. Margelyte, R. Maria, C. Markonis, Y. Marsili, L. Mavoa, S. McWilliams, L. Megersa, M. Souto-Maior, C. Menichetti, J. Mercieca-Bebber, R. Miller, J.J. Minde, D.-P.M. Minges, A. Mishra, E. Mishra, V.R. Moores, C. Morrice, N. Moskalensky, A.E. Navarin, N. Negera, E. Nolet, P. Nordberg, A. Nordén, R. Nowicki, J.P. Olova, N. Olszewski, P. Onzima, R. Pan, C.-L. Park, C. Park, D.I. Park, S. Patil, C.D. Pedro, S.A. Perry, S.R. Peter, J. Peterson, B.M. Pezzuolo, A. Pozdnyakov, I. Qian, S. Qin, L. Rafe, A. Raote, I. Raza, A. Rebl, H. Refai, O. Regan, T. Richa, T. Richardson, M.F. Robinson, K.R. Rossoni, L. Rouet, R. Safaei, S. Schneeberger, P.H.H. Schwotzer, D. Sebastian, A. Selinski, J. Seltmann, S. Sha, F. Shalev, N. Shang, J.-L. Singer, J. Singh, M. Smith, T. Solomon-Moore, E. Song, L. Soraggi, S. Stanley, R. Steckhan, N. Strobl, F. Subissi, L. Supriyanto, I. Surve, C.R. Suzuki, T. Syme, C. Sörelius, K. Tang, Y. Tantawy, M. Tennakoon, S. Teseo, S. Toelzer, C. Tomov, N. Tovar, M. Tran, L. Tripathi, S. Tuladhar, A.M. Ukubuiwe, A.C. Ung, C.O.L. Valgepea, K. Vatanparast, H. Vidal, A. Wang, F. Wang, Q. Watari, R. Webster, R. Webster, R. Wei, J. Wibowo, D. Wingenbach, T.S.H. Xavier, R.M. Xiao, S. Xiong, P. Xu, S. Xu, S. Yao, R. Yao, W. Yin, Q. Yu, Y. Zaitsu, M. Zeineb, Z. Zhan, X.-Y. Zhang, J. Zhang, R. Zhang, W. Zhang, X. Zheng, S. Zhou, B. Zhou, X. Ahmad, H. Akinwumi, S.A. Albery, G.F. Alhowimel, A. Ali, J. Alshehri, M. Alsuhaibani, M. Anikin, A. Azubuike, S.O. Bach-Mortensen, A. Baltiansky, L. Bartas, M. Belachew, K.Y. Bhardwaj, V. Binder, K. Bland, N.S. Boah, M. Bullen, B. Calabrò, G.E. Callahan, T.J. Cao, B. Chalmers, K. Chang, W. Che, Z. Chen, A.T.Y. Chen, H. Chen, H. Chen, Y. Chen, Z. Choi, Y. Chowdhury, M.A.K. Christensen, M.R. Cooke, R.S.C. Cottini, M. Covington, N.V. Cunningham, C. Delarocque, J. Devos, L. Dhar, A.R. Ding, K.-F. Dong, K. Dong, Z. Dreyer, N. Ekstrand, C. Fardet, T. Feleke, B.E. Feurer, T. Freitas, A. Gao, T. Gebremedhin Giganti, F. Grabowski, P. Guerra-Mora, J.R. Guo, C. Guo, X. Gupta, H. He, S. Heijne, M. Heinemann, S. Hogrebe, A. Huang, Z. Iskander-Rizk, S. Iyer, L.M. Jahan, Y. James, A.S. Joel, E. Joffroy, B. Jégousse, C. Kambondo, G. Karnati, P. Kaya, C. Ke, A. Kelly, D. Kickert, R. Kidibule, P.E. Kieselmann, J.P. Kim, H.J. Kitazawa, T. Lamberts, A. Li, Y. Liang, H. Linn, S.N. Litfin, T. Liusuo, W. Lygirou, V. Mahato, A.K. Mai, Z.-M. Major, R.W. Mali, S. Mallis, P. Mao, W. Marvin-Dowle, K. Mason, L.D. Merideth, B. Merino-Plaza, M.J. Merlaen, B. Messina, R. Mishra, A.K. Muhammad, J. Musinguzi, C. Nanou, A. Naqash, A. Nguyen, J.T. Nguyen, T.T.H. Ni, D. Nida Notcovich, S. Ohst, B. Ollivier, Q.R. Osses, D.F. Peng, X. Plantinga, A. Pulia, M. Rafiq, M. Raman, A. Raucher-Chéné Rawski, R. Ray, A. Razak, L.A. Rudolf, K. Rusch, P. Sadoine, M.L. Schmidt, A. Schurr, R. Searles, S. Sharma, S. Sheehan, B. Shi, C. Shohayeb, B. Sommerlad, A. Strehlow, J. Sun, X. Sundar, R. Taherzadeh, G. Tahir, N.D.M. Tang, J. Testa, J. Tian, Z. Tingting, Q. Verheijen, G.P. Vickstrom, C. Wang, T. Wang, X. Wang, Z. Wei, P. Wilson, A. Wyart Yassine, A.-A. Yousefzadeh, A. Zare, A. Zeng, Z. Zhang, C. Zhang, H. Zhang, L. Zhang, T. Zhang, W. Zhang, Z. Zhou, J. Zhu, D. Adamo, V. Adeyemo, A.A. Aggelidou, M. Al-Owaifeer, A.M. Al-Riyami, A.Z. Alzghari, S.K. Andersen, V. Angus, K. Asaduzzaman, M. Asady, H. Ato, D. Bai, X. Baines, R.L. Ballantyne, M. Ban, B. Beck, J. Ben-Nafa, W. Black, E. Blancher, A. Blankstein, R. Bodagh, N. Borges, P. Brooks, A. Brox-Ponce, J. Brunetti, A. Canham, C.D. Carninci, P. Carvajal, R. Chang, S.C. Chao, J. Chatterjee, P. Chen, H. Chen, L. Chen, Y.-C. Chhatriwalla, A.K. Chikowe, I. Chuang, T.-J. Collevatti, R.G. Cornejo, D.A.V. Cuenda, A. Dao, M. Dauga, D. Deng, Z. Devkota, K. Doan, L.V. Elewa, Y.H.A. Fan, D. Faruk, M. Feifei, S. Ferguson, T.S. Fleres, F. Foster, E.J. Foster, S. Furer, T. Gao, Y. Garcia-Rivera, E.J. Gazdar, A. George, R.B. Ghosh, S. Gianchecchi, E. Gleason, J.M. Hackshaw, A. Hall, A. Hall, R. Harper, P. Hogg, W.E. Huang, G. Hunter, K.E. Ijzerman, A.P. Jesus, C. Jian, G. Lewis, J.S., Jr. Kanj, S.S. Kaur, H. Kelly, S. Kheir, F. Kichatova, V.S. Kiyani, M. Klein, R. Kovesi, T. Kraschnewski, J.L. Kumar, A.P. Labutin, D. Lazo-Langner, A. Leclercq, G. Li, M. Li, Q. Li, T. Li, Y. Liao, W.-T. Liao, Z.-Y. Lin, J. Lizer, J. Lobreglio, G. Lowies, C. Lu, C. Majeed, H. Martin, A. Martinez-Sobrido, L. Meresh, E. Middelveen, M. Mohebbi, A. Mota, J. Mozaheb, Z. Muyaya, L. Nandhakumar, A. Ng, S.H.X. Obeidat, M. Oh, D.-H. Owais, M. Pace-Asciak, P. Panwar, A. Park, C. Patterson, C. Penagos-Tabaree, F. Pianosi, P.T. Pinzi, V. Pridans, C. Psaroulaki, A. Pujala, R.K. Pulido-Arjona, L. Qi, P.-F. Rahman, P. Rai, N.K. Rassaf, T. Refardt, J. Ricciardi, W. Riess, O. Rovas, A. Sacks, F.M. Saleh, S. Sampson, C. Schmutz, A. Sepanski, R. Sharma, N. Singh, M. Spearman, P. Subramaniapillai, M. Swali, R. Tan, C.M. Tellechea, J.I. Thomas, L.-M. Tong, X. Vavvas, D.G. Veys, R. Vitriol, V. Wang, H.-D. Wang, J. Wang, J. Waugh, J. Webb, S.A. Williams, B.A. Workman, A.D. Xiang, T. Xie, L.-X. Xu, J. Xu, T. Yang, C. Yoon, J.G. Yuan, C.M. Zaritsky, A. Zhang, Y. Zhao, H. Zuckerman, H. Lyu, R. Pullan, W. RELISH Consortium
- Abstract
Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical science. © The Author(s) 2019. Published by Oxford University Press.
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- 2019
20. Body mass index, alcohol, tobacco and symptomatic gallstone disease: a Swedish twin study
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Katsika, D., Tuvblad, C., Einarsson, C., Lichtenstein, P., and Marschall, H.-U.
- Published
- 2007
21. Gallstone disease
- Author
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Marschall, H.-U. and Einarsson, C.
- Published
- 2007
22. Abnormal postprandial duodenal chyme transport in patients with long standing insulin dependent diabetes mellitus
- Author
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Nguyen, H N, Silny, J, Wuller, S, Marschall, H-U, Rau, G, and Matern, S
- Published
- 1997
23. A randomized trial of obeticholic acid monotherapy in patients with primary biliary cholangitis
- Author
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Kowdley, KV, Luketic, V, Chapman, R, Hirschfield, GM, Poupon, R, Schramm, C, Vincent, C, Rust, C, Parés, A, Mason, A, Marschall, H-U, Shapiro, D, Adorini, L, Sciacca, C, Beecher-Jones, T, Böhm, O, Pencek, R, Jones, D, and Obeticholic Acid Pbc Monotherapy Study Group
- Subjects
0301 basic medicine ,Adult ,Male ,medicine.medical_specialty ,Phases of clinical research ,Receptors, Cytoplasmic and Nuclear ,Placebo ,Chenodeoxycholic Acid ,Gastroenterology ,law.invention ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Randomized controlled trial ,Cholestasis ,Double-Blind Method ,law ,Internal medicine ,Clinical endpoint ,Medicine ,Humans ,Hepatology ,business.industry ,Liver Cirrhosis, Biliary ,Obeticholic acid ,Middle Aged ,medicine.disease ,Alkaline Phosphatase ,Ursodeoxycholic acid ,eye diseases ,030104 developmental biology ,Treatment Outcome ,chemistry ,030211 gastroenterology & hepatology ,Female ,business ,medicine.drug ,Follow-Up Studies - Abstract
Obeticholic acid (OCA), a potent farnesoid X receptor agonist, was studied as monotherapy in an international, randomized, double-blind, placebo-controlled phase 2 study in patients with primary biliary cholangitis who were then followed for up to 6 years. The goals of the study were to assess the benefit of OCA in the absence of ursodeoxycholic acid, which is relevant for patients who are intolerant of ursodeoxycholic acid and at higher risk of disease progression. Patients were randomized and dosed with placebo (n = 23), OCA 10 mg (n = 20), or OCA 50 mg (n = 16) given as monotherapy once daily for 3months (1 randomized patient withdrew prior to dosing). The primary endpoint was the percent change in alkaline phosphatase from baseline to the end of the double-blind phase of the study. Secondary and exploratory endpoints included change from baseline to month 3/early termination in markers of cholestasis, hepatocellular injury, and farnesoid X receptor activation. Efficacy and safety continue to be monitored through an ongoing 6-year open-label extension (N = 28). Alkaline phosphatase was reduced in both OCA groups (median% [Q1, Q3], OCA 10 mg -53.9% [-62.5, -29.3], OCA 50 mg -37.2% [-54.8, -24.6]) compared to placebo (-0.8% [-6.4, 8.7];P < 0.0001) at the end of the study, with similar reductions observed through 6years of open-label extension treatment. OCA improved many secondary and exploratory endpoints (including -glutamyl transpeptidase, alanine aminotransferase, conjugated bilirubin, and immunoglobulin M). Pruritus was the most common adverse event;15% (OCA 10 mg) and 38% (OCA 50 mg) discontinued due to pruritus. Conclusion: OCA monotherapy significantly improved alkaline phosphatase and other biochemical markers predictive of improved long-term clinical outcomes. Pruritus increased dose-dependently with OCA treatment. Biochemical improvements were observed through 6 years of open-label extension treatment. (Hepatology 2018;67:1890-1902).
- Published
- 2017
24. Outcomes of pregnancy in women with cirrhosis – a national, population-based cohort study
- Author
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Hagström, H., primary, Höijer, J., additional, Marschall, H.-U., additional, Williamson, C., additional, Heneghan, M., additional, Westbrook, R., additional, Ludvigsson, J.F., additional, and Stephansson, O., additional
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- 2018
- Full Text
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25. Loss of BSEP protects MDR2/ABCB4 KO mice from cholestatic liver injury by altering bile acid profile and signaling
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Fuchs, C., primary, Paumgartner, G., additional, Mlitz, V., additional, Wolfrum, S., additional, Wahlström, A., additional, Ståhlman, M., additional, Stojakovic, T., additional, Wolfrum, C., additional, Marschall, H.-U., additional, and Trauner, M., additional
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- 2018
- Full Text
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26. International experience of vedolizumab in primary sclerosis cholangitis and inflammatory bowel disease
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Williamson, K., primary, Lytvyak, E., additional, Kremer, A.E., additional, de Krijger, M., additional, Trivedi, P., additional, Estes, D., additional, Yu, L., additional, Pratt, D., additional, de Vries, A., additional, Yimam, K.K., additional, Daretti, L., additional, Liu, C.H., additional, Bowlus, C., additional, Vetter, M., additional, Marschall, H.-U., additional, Montano-Loza, A., additional, Chapman, R.W.G., additional, Marzioni, M., additional, Keshav, S., additional, Ponsioen, C., additional, Hirschfield, G., additional, and Levy, C., additional
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- 2018
- Full Text
- View/download PDF
27. Stk25 antisense oligonucleotide treatment reverses glucose intolerance, insulin resistance, and NAFLD in mice
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Mahlapuu, M., primary, Duran, E.N., additional, Aghajan, M., additional, Amrutkar, M., additional, Sütt, S., additional, Cansby, E., additional, Booten, S., additional, Watt, A., additional, Ståhlman, M., additional, Stefan, N., additional, Haering, H.-U., additional, Staiger, H., additional, Boren, J., additional, and Marschall, H.-U., additional
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- 2018
- Full Text
- View/download PDF
28. FXR agonist obeticholic acid increases gallbladder FGF19 in gallstone patients
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Al-Dury, S., primary, Wahlström, A., additional, Katrin, P., additional, Anders, T., additional, Ståhlman, M., additional, Olsson, L., additional, Trauner, M., additional, Fickert, P., additional, Moore, D., additional, Backhed, F., additional, Fändriks, L., additional, Wagner, M., additional, and Marschall, H.-U., additional
- Published
- 2018
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29. The gut-liver axis is essential for disease progression in the Mdr2–/– mouse model of primary sclerosing cholangitis
- Author
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Liao, L., primary, Schneider, K.M., additional, Frissen, M., additional, Strowig, T., additional, Marschall, H.-U., additional, Wahlström, A., additional, Eric, G., additional, Mohs, A., additional, Jin, P., additional, Jung, J., additional, Reissing, J., additional, Sun, H., additional, Elfers, C., additional, Bieghs, V., additional, Cubero, F.J., additional, and Trautwein, C., additional
- Published
- 2018
- Full Text
- View/download PDF
30. Obeticholic acid improves fetal hypercholanaemia during cholestatic gestation
- Author
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Pataia, V., primary, Papacleovoulou, G., additional, Jansen, E., additional, Adorini, L., additional, Marschall, H.-U., additional, and Williamson, C., additional
- Published
- 2018
- Full Text
- View/download PDF
31. Anwendung der Systemanalyse im Medizinischen Laboratorium
- Author
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Renn, W., Marschall, H. U., Eggstein, M., Koller, S., editor, Reichertz, P. L., editor, Überla, K., editor, Anderson, J., editor, Goos, G., editor, Gremy, F., editor, Jesdinsky, H.-J., editor, Lange, H.-J., editor, Schneider, B., editor, Segmüller, G., editor, Wagner, G., editor, and Möller, Dietmar P. F., editor
- Published
- 1984
- Full Text
- View/download PDF
32. STK25 is a critical determinant in nonalcoholic steatohepatitis
- Author
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Mahlapuu, M., primary, Amrutkar, M., additional, Chursa, U., additional, Nuñez-Duran, E., additional, Borén, J., additional, Johansson, B.R., additional, Marschall, H.-U., additional, Blüher, M., additional, and Cansby, E., additional
- Published
- 2017
- Full Text
- View/download PDF
33. Multicenter randomized trial comparing short-term stenting versus balloon dilatation for dominant strictures in primary sclerosing cholangitis
- Author
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Ponsioen, C., primary, Arnelo, U., additional, Bergquist, A., additional, Rauws, E., additional, Paulsen, V., additional, Cantu, P., additional, Parzanese, I., additional, de Vries, E., additional, Said, K., additional, Chazouilleres, O., additional, Kemgang, A., additional, Desaint, B., additional, Farkkila, M., additional, Van der Merwe, S., additional, Van Steenbergen, W., additional, Marschall, H.-U., additional, Stotzer, P.-O., additional, Thorburn, D., additional, Pereira, S., additional, and Aabakken, L., additional
- Published
- 2017
- Full Text
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34. Colesevelam attenuates cholestatic liver and bile duct injury in Mdr2 -/- mice by modulating fecal bile acid composition and signaling
- Author
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Fuchs, C.D., primary, Paumgartner, G., additional, Halilbasic, E., additional, Leditznig, N., additional, Wahlström, A., additional, Stahlman, M., additional, Stojakovic, T., additional, Marschall, H.-U., additional, and Trauner, M., additional
- Published
- 2017
- Full Text
- View/download PDF
35. Colonization of Germ-Free Mice with a Human Microbiota Induces FXR Signaling
- Author
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Wahlström, A., primary, Kovatcheva-Datchary, P., additional, Ståhlman, M., additional, Marschall, H.-U., additional, and Bäckhed, F., additional
- Published
- 2016
- Full Text
- View/download PDF
36. CYP3A11 is Dispensable for the Formation of Murine Bile Acids
- Author
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Al-Dury, S., primary, Wahlström, A., additional, Ståhlman, M., additional, Bäckhed, F., additional, and Marschall, H.-U., additional
- Published
- 2016
- Full Text
- View/download PDF
37. Genotype-Phenotype Analysis across 130,422 Genetic Variants Identifies Rspo3 as the First Genome-Wide Significant Modifier Gene in Primary Sclerosing Cholangitis
- Author
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Alberts, R., primary, de Vries, E.M., additional, Alexander, G., additional, Alvaro, D., additional, Bergquist, A., additional, Beuers, U., additional, Björnsson, E., additional, Boberg, K.M., additional, Bowlus, C.L., additional, Chapman, R.W., additional, Chazouilléres, O., additional, Cheung, A., additional, Dalekos, G., additional, Eksteen, B., additional, Eaton, J.E., additional, Ellinghaus, D., additional, Färkkilä, M., additional, Festen, E.A., additional, Floreani, A., additional, Folseraas, T., additional, Goode, E., additional, Gotthardt, D.N., additional, Hirschfield, G.M., additional, van Hoek, B., additional, Hohenester, S., additional, Holm, K., additional, Hov, J.R., additional, Imhann, F., additional, Invernizzi, P., additional, Jiang, X., additional, Juran, B.D., additional, Lazaridis, K.N., additional, Leppa, V., additional, Liu, J.Z., additional, Löfberg, J., additional, Manns, M.P., additional, Marschall, H.-U., additional, Marzioni, M., additional, Mason, A.L., additional, Melum, E., additional, Müller, T., additional, Milkiewicz, P., additional, Pares, A., additional, Pelkonen, V., additional, Pinzani, M., additional, Rombouts, K., additional, Rupp, C., additional, Rushbrook, S.M., additional, Rust, C., additional, Sampaziotis, F., additional, Sandford, R.N., additional, Schramm, C., additional, Schreiber, S., additional, Schrumpf, E., additional, Silverberg, M., additional, Srivastava, B., additional, Sterneck, M., additional, Teufel, A., additional, Tittmann, L., additional, Vallier, L., additional, Vila, A.V., additional, de Vries, B.A., additional, Weismüller, T.J., additional, Wijmenga, C., additional, Zachou, K., additional, Franke, A., additional, Anderson, C.A., additional, Karlsen, T.H., additional, Ponsioen, C.Y., additional, and Weersma, K., additional
- Published
- 2016
- Full Text
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38. The ileal bile acid transporter inhibitor A4250 decreases serum bile acids by interrupting the enterohepatic circulation
- Author
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Graffner, H., primary, Gillberg, P.-G., additional, Rikner, L., additional, and Marschall, H.-U., additional
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- 2015
- Full Text
- View/download PDF
39. SAT-197 - Outcomes of pregnancy in women with cirrhosis – a national, population-based cohort study
- Author
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Hagström, H., Höijer, J., Marschall, H.-U., Williamson, C., Heneghan, M., Westbrook, R., Ludvigsson, J.F., and Stephansson, O.
- Published
- 2018
- Full Text
- View/download PDF
40. FRI-199 - Loss of BSEP protects MDR2/ABCB4 KO mice from cholestatic liver injury by altering bile acid profile and signaling
- Author
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Fuchs, C., Paumgartner, G., Mlitz, V., Wolfrum, S., Wahlström, A., Ståhlman, M., Stojakovic, T., Wolfrum, C., Marschall, H.-U., and Trauner, M.
- Published
- 2018
- Full Text
- View/download PDF
41. FRI-198 - FXR agonist obeticholic acid increases gallbladder FGF19 in gallstone patients
- Author
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Al-Dury, S., Wahlström, A., Katrin, P., Anders, T., Ståhlman, M., Olsson, L., Trauner, M., Fickert, P., Moore, D., Backhed, F., Fändriks, L., Wagner, M., and Marschall, H.-U.
- Published
- 2018
- Full Text
- View/download PDF
42. FRI-114 - Obeticholic acid improves fetal hypercholanaemia during cholestatic gestation
- Author
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Pataia, V., Papacleovoulou, G., Jansen, E., Adorini, L., Marschall, H.-U., and Williamson, C.
- Published
- 2018
- Full Text
- View/download PDF
43. THU-441 - Stk25 antisense oligonucleotide treatment reverses glucose intolerance, insulin resistance, and NAFLD in mice
- Author
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Mahlapuu, M., Duran, E.N., Aghajan, M., Amrutkar, M., Sütt, S., Cansby, E., Booten, S., Watt, A., Ståhlman, M., Stefan, N., Haering, H.-U., Staiger, H., Boren, J., and Marschall, H.-U.
- Published
- 2018
- Full Text
- View/download PDF
44. PS-134 - International experience of vedolizumab in primary sclerosis cholangitis and inflammatory bowel disease
- Author
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Williamson, K., Lytvyak, E., Kremer, A.E., de Krijger, M., Trivedi, P., Estes, D., Yu, L., Pratt, D., de Vries, A., Yimam, K.K., Daretti, L., Liu, C.H., Bowlus, C., Vetter, M., Marschall, H.-U., Montano-Loza, A., Chapman, R.W.G., Marzioni, M., Keshav, S., Ponsioen, C., Hirschfield, G., and Levy, C.
- Published
- 2018
- Full Text
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45. Rate and rhythm dependent vulnerability of the human ventricular myocardium
- Author
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Fleischmann, D. W., Marschall, H. U., and De Bakker, J. M. T.
- Published
- 1979
- Full Text
- View/download PDF
46. O083 : Absence of BSEP/ABCB11 protects from cholestatic liver and bile duct injury in a mouse model of sclerosing cholangitis
- Author
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Fuchs, C.D., primary, Paumgartner, G., additional, Wahlström, A., additional, Chiba, P., additional, Stojakovic, T., additional, Claudel, T., additional, Marschall, H.-U., additional, and Trauner, M., additional
- Published
- 2015
- Full Text
- View/download PDF
47. O082 : The gut microbiota in primary sclerosing cholangitis differs from that of healthy controls and ulcerative colitis patients without biliary disease
- Author
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Kummen, M., primary, Holm, K., additional, Anmarkrud, J.A., additional, Vesterhus, M., additional, Høivik, M.L., additional, Trøseid, M., additional, Marschall, H.-U., additional, Schrumpf, E., additional, Moum, B., additional, Aukrust, P., additional, Karlsen, T.H., additional, and Hov, J.R., additional
- Published
- 2015
- Full Text
- View/download PDF
48. Anwendung der Systemanalyse im Medizinischen Laboratorium
- Author
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Renn, W., primary, Marschall, H. U., additional, and Eggstein, M., additional
- Published
- 1984
- Full Text
- View/download PDF
49. P379 BIOCHEMICAL MARKERS FOR INTRAHEPATIC CHOLESTASIS OF PREGNANCY AND PRURITUS GRAVIDARUM IN WOMEN WITH GESTATIONAL PRURITUS
- Author
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Ovadia, C., primary, Abu-Hayyeh, S., additional, Dixon, P.H., additional, Chambers, J., additional, Lövgren-Sandblom, A., additional, Bolier, R., additional, Tolenaars, D., additional, Beuers, U., additional, Oude-Elferink, R., additional, Jansen, E., additional, Seed, P.T., additional, Marschall, H.-U., additional, and Williamson, C., additional
- Published
- 2014
- Full Text
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50. P367 PHASE 2 STUDY EVALUATING THE EFFICACY AND SAFETY OF USTEKINUMAB IN PATIENTS WITH PRIMARY BILIARY CIRRHOSIS WHO HAD AN INADEQUATE RESPONSE TO URSODEOXYCHOLIC ACID
- Author
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Hirschfield, G.M., primary, Gershwin, M.E., additional, Strauss, R., additional, Mayo, M.J., additional, Levy, C., additional, Zou, B., additional, Selmi, C., additional, Marschall, H.-U., additional, and Lindor, K., additional
- Published
- 2014
- Full Text
- View/download PDF
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