Artículos de revistas sobre el tema "Pfic2"
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Kim, Kang Ho, Jong Min Choi, Feng Li, Armando Arizpe, Clavia Ruth Wooton-Kee, Sayeepriyadarshini Anakk, Sung Yun Jung, Milton J. Finegold y David D. Moore. "Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis". Endocrinology 159, n.º 6 (26 de abril de 2018): 2435–46. http://dx.doi.org/10.1210/en.2018-00110.
Texto completoKagawa, Tatehiro, Norihito Watanabe, Kaori Mochizuki, Asano Numari, Yoshie Ikeno, Johbu Itoh, Hirotoshi Tanaka, Irwin M. Arias y Tetsuya Mine. "Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells". American Journal of Physiology-Gastrointestinal and Liver Physiology 294, n.º 1 (enero de 2008): G58—G67. http://dx.doi.org/10.1152/ajpgi.00367.2007.
Texto completoMareux, Elodie, Martine Lapalus, Amel Ben Saad, Renaud Zelli, Mounia Lakli, Yosra Riahi, Marion Almes et al. "In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators". International Journal of Molecular Sciences 23, n.º 18 (15 de septiembre de 2022): 10758. http://dx.doi.org/10.3390/ijms231810758.
Texto completoDavit-Spraul, Anne, Monique Fabre, Sophie Branchereau, Christiane Baussan, Emmanuel Gonzales, Bruno Stieger, Olivier Bernard y Emmanuel Jacquemin. "ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history". Hepatology 51, n.º 5 (28 de enero de 2010): 1645–55. http://dx.doi.org/10.1002/hep.23539.
Texto completoLam, Ping, Claire L. Pearson, Carol J. Soroka, Shuhua Xu, Albert Mennone y James L. Boyer. "Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases". American Journal of Physiology-Cell Physiology 293, n.º 5 (noviembre de 2007): C1709—C1716. http://dx.doi.org/10.1152/ajpcell.00327.2007.
Texto completoEvason, Kimberley, Kevin E. Bove, Milton J. Finegold, A. S. Knisely, Sue Rhee, Philip Rosenthal, Alexander G. Miethke, Saul J. Karpen, Linda D. Ferrell y Grace E. Kim. "Morphologic Findings in Progressive Familial Intrahepatic Cholestasis 2 (PFIC2)". American Journal of Surgical Pathology 35, n.º 5 (mayo de 2011): 687–96. http://dx.doi.org/10.1097/pas.0b013e318212ec87.
Texto completoGoto, Kenji, Kohachiro Sugiyama, Tokio Sugiura, Toshihiro Ando, Fumihiko Mizutani, Koji Terabe, Kyoko Ban y Hajime Togari. "Bile Salt Export Pump Gene Mutations in Two Japanese Patients With Progressive Familial Intrahepatic Cholestasis". Journal of Pediatric Gastroenterology and Nutrition 36, n.º 5 (mayo de 2003): 647–50. http://dx.doi.org/10.1002/j.1536-4801.2003.tb08089.x.
Texto completoGooijert, K. E. R., R. Havinga, H. Wolters, R. Wang, V. Ling, S. Tazuma y H. J. Verkade. "The mechanism of increased biliary lipid secretion in mice with genetic inactivation of bile salt export pump". American Journal of Physiology-Gastrointestinal and Liver Physiology 308, n.º 5 (1 de marzo de 2015): G450—G457. http://dx.doi.org/10.1152/ajpgi.00391.2014.
Texto completoMushiake, S., K. Kawamoto, N. Kobayashi, Y. Etani, Y. Miyoshi, K. Ozono, T. Hasegawa, R. Sumazaki y A. Matsui. "P0194 A CASE OF PFIC2 WHO UNDERWENT LIVING-RELATED ORTHOTOPIC LIVER TRANSPLANTATION". Journal of Pediatric Gastroenterology and Nutrition 39, Supplement 1 (junio de 2004): S132. http://dx.doi.org/10.1097/00005176-200406001-00318.
Texto completoRumbo, Carolina, Juan P. Santilli, Julio J. Trentadue y Gabriel E. Gondolesi. "Double Heterozygous Mutation Causing PFIC2 with Synchronic Hepatocellular Carcinomas before Two Years of Age". Transplantation 102 (julio de 2018): S848. http://dx.doi.org/10.1097/01.tp.0000543914.64104.9e.
Texto completoLiu, Teng, Ren-Xue Wang, Jun Han, Yi-Ling Qiu, Christoph H. Borchers, Victor Ling y Jian-She Wang. "Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients". Annals of Translational Medicine 8, n.º 5 (marzo de 2020): 185. http://dx.doi.org/10.21037/atm.2020.01.103.
Texto completoLam, Ching-Wan, Ka-Ming Cheung, Man-Shan Tsui, Matthew Shu-Ching Yan, Ching-Yin Lee y Sui-Fan Tong. "A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2". Journal of Hepatology 44, n.º 1 (enero de 2006): 240–42. http://dx.doi.org/10.1016/j.jhep.2005.09.013.
Texto completoHayashi, Hisamitsu, Tappei Takada, Hiroshi Suzuki, Hidetaka Akita y Yuichi Sugiyama. "Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11". Hepatology 41, n.º 4 (2005): 916–24. http://dx.doi.org/10.1002/hep.20627.
Texto completoSheridan, Rachel M., Anita Gupta, Alexander Miethke, Alexander S. Knisely y Kevin E. Bove. "Multiple Dysplastic Liver Nodules in PFIC2 Underscore Risk for Neoplasia Associated With Functional BSEP Deficiency". American Journal of Surgical Pathology 36, n.º 5 (mayo de 2012): 785–86. http://dx.doi.org/10.1097/pas.0b013e3182500c35.
Texto completoSohail, Muhammad Imran, Yaprak Dönmez-Cakil, Dániel Szöllősi, Thomas Stockner y Peter Chiba. "The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies". International Journal of Molecular Sciences 22, n.º 2 (14 de enero de 2021): 784. http://dx.doi.org/10.3390/ijms22020784.
Texto completoAnanthanarayanan, Meenakshisundaram y Yanfeng Li. "PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?" Liver International 30, n.º 6 (8 de marzo de 2010): 777–79. http://dx.doi.org/10.1111/j.1478-3231.2010.02227.x.
Texto completoKAGAWA, T., K. MOCHIZUKI, M. HARRIS, N. WATANABE, T. MINE, S. MATSUZAKI y I. ARIAS. "475 Bile acid transport activity and intracellular distribution of PFIC2 mutants in MDCKII cells coexpressing NTCP and BSEP". Hepatology 38 (2003): 389. http://dx.doi.org/10.1016/s0270-9139(03)80517-7.
Texto completoBosma, Piter J., Marius Wits y Ronald P. J. Oude-Elferink. "Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects". International Journal of Molecular Sciences 22, n.º 1 (29 de diciembre de 2020): 273. http://dx.doi.org/10.3390/ijms22010273.
Texto completoHartleb, M., M. Jirsa, M. Zindr, J. Pawlowska, I. Jankowska y J. Cielecka-Kuszyk. "Slowly Developing Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) in an Adolescent with Cholelithiasis, Gilbert's Syndrome and Chronic Calcifying Pancreatitis". Open Gastroenterology Journal 2, n.º 1 (3 de junio de 2008): 38–40. http://dx.doi.org/10.2174/1874259900802010038.
Texto completoGül-Klein, Safak, Robert Öllinger, Moritz Schmelzle, Johann Pratschke y Wenzel Schöning. "Long-Term Outcome after Liver Transplantation for Progressive Familial Intrahepatic Cholestasis". Medicina 57, n.º 8 (22 de agosto de 2021): 854. http://dx.doi.org/10.3390/medicina57080854.
Texto completoKüçükçongar Yavaş, Aynur, Büşra Çavdarlı, Özlem Ünal Uzun, Ayşen Uncuoğlu y Mehmet Gündüz. "A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis". Journal of Pediatric Endocrinology and Metabolism 33, n.º 5 (26 de mayo de 2020): 665–69. http://dx.doi.org/10.1515/jpem-2019-0314.
Texto completoAtimati, Anthony Oyovwikigho y Paul Ikhurionan. "A suspected case of Progressive Familial Intra-hepatic Cholestasis in a Six-Year-Old Nigerian Child". Annals of Health Research 5, n.º 1 (1 de junio de 2019): 135–40. http://dx.doi.org/10.30442/ahr.0501-14-44.
Texto completoCentenari, C., M. Fabre, M. Sciveres, E. Jacquemin y G. Maggiore. "CO18 RELAPSING FEATURES OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY IN A PATIENT SUCCESSFULLY TRANSPLANTED FOR PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC2)". Digestive and Liver Disease 42 (octubre de 2010): S329. http://dx.doi.org/10.1016/s1590-8658(10)60561-0.
Texto completoMaggiore, G., M. Fabre, M. Sciveres, M. J. Redon, B. Stieger, A. Davit-Spraul y E. Jaquemin. "1128 RELAPSING FEATURES OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY IN TWO PATIENTS SUCCESSFULLY TRANSPLANTED FOR PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC2)". Journal of Hepatology 52 (abril de 2010): S435. http://dx.doi.org/10.1016/s0168-8278(10)61129-4.
Texto completoSticova, Eva, Milan Jirsa y Joanna Pawłowska. "New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications". Canadian Journal of Gastroenterology and Hepatology 2018 (26 de julio de 2018): 1–12. http://dx.doi.org/10.1155/2018/2313675.
Texto completoGonzales, E., B. Grosse, M. J. Redon, I. Friteau, A. Davit-Spraul, M. Fabre y E. Jacquemin. "Allo-immunisation anti-BSEP (Bile Salt Export Pump) post-transplantation hépatique pour cholestase intrahépatique progressive familiale de type 2 (PFIC2) : une complication sous-estimée ?" Archives de Pédiatrie 18, n.º 12 (diciembre de 2011): 1326. http://dx.doi.org/10.1016/j.arcped.2011.09.015.
Texto completoTakahashi, Atsushi, Makoto Hasegawa, Ryo Sumazaki, Makoto Suzuki, Fumiaki Toki, Taketoshi Suehiro, Kazumichi Onigata et al. "Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2". European Journal of Gastroenterology & Hepatology 19, n.º 11 (noviembre de 2007): 942–46. http://dx.doi.org/10.1097/meg.0b013e3282ef4795.
Texto completoWong, Lee-Jun C., David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter-Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia y A. Craig Chinault. "Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions". Clinical Chemistry 54, n.º 7 (1 de julio de 2008): 1141–48. http://dx.doi.org/10.1373/clinchem.2008.103721.
Texto completoAyub, Tanzeela y Michael Pereira. "Personal Tax Planning: What Is at Stake for US Beneficiaries of Canadian Estates". Canadian Tax Journal/Revue fiscale canadienne 70, n.º 2 (julio de 2022): 433–50. http://dx.doi.org/10.32721/ctj.2022.70.2.ptp.
Texto completoMartínez-García, Javier, Angie Molina, Gloria González-Aseguinolaza, Nicholas D. Weber y Cristian Smerdou. "Gene Therapy for Acquired and Genetic Cholestasis". Biomedicines 10, n.º 6 (26 de mayo de 2022): 1238. http://dx.doi.org/10.3390/biomedicines10061238.
Texto completoAlsohaibani, Fahad I., Musthafa C. Peedikayil, Abdulaziz F. Alfadley, Mohamed K. Aboueissa, Faisal A. Abaalkhail y Saleh A. Alqahtani. "Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center". International Journal of Hepatology 2023 (20 de julio de 2023): 1–8. http://dx.doi.org/10.1155/2023/1960152.
Texto completoReddy, Saigopala, Nathan Fleishman, Katherine Dempsey, Edwin Ferren, Michal Kamionek y Vani V. Gopalareddy. "Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury". ACG Case Reports Journal 11, n.º 4 (abril de 2024): e01312. http://dx.doi.org/10.14309/crj.0000000000001312.
Texto completoZampaglione, Lucia, Anne-Laure Rougemont, Laura Rubbia-Brandt, Marc Abramowicz, Michel Guipponi, Enrica Marchionni, McLin Valerie y Nicolas Goossens. "Variable Intrafamilial Expression of ABCB4 Disease". ACG Case Reports Journal 10, n.º 8 (agosto de 2023): e01113. http://dx.doi.org/10.14309/crj.0000000000001113.
Texto completoHüpper, Maria Noelle, Judith Pichler, Wolf-Dietrich Huber, Andreas Heilos, Rebecca Schaup, Martin Metzelder y Sophie Langer. "Surgical versus Medical Management of Progressive Familial Intrahepatic Cholestasis—Case Compilation and Review of the Literature". Children 10, n.º 6 (26 de mayo de 2023): 949. http://dx.doi.org/10.3390/children10060949.
Texto completoJansen, Peter LM y Michael Müller. "Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation". Canadian Journal of Gastroenterology 14, n.º 3 (2000): 233–38. http://dx.doi.org/10.1155/2000/514172.
Texto completoQi, Yue, Chun Li Zheng y Yong Huan Yang. "Aerobic Degradation of Nitrobenzene by Immobilization of Streptomyces albidoflavus in Polyurethane Foam". Advanced Materials Research 610-613 (diciembre de 2012): 1845–52. http://dx.doi.org/10.4028/www.scientific.net/amr.610-613.1845.
Texto completoHang, Chenyue, Yijie Jin, Yi Luo, Mingxuan Feng, Tao Zhou, Jianjun Zhu, Jianjun Zhang, Yuan Liu y Qiang Xia. "Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis". Journal of Clinical Medicine 11, n.º 16 (11 de agosto de 2022): 4684. http://dx.doi.org/10.3390/jcm11164684.
Texto completoKavallar, Anna M., Franka Messner, Stefan Scheidl, Rupert Oberhuber, Stefan Schneeberger, Denise Aldrian, Valeria Berchtold et al. "Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation". Children 9, n.º 12 (14 de diciembre de 2022): 1964. http://dx.doi.org/10.3390/children9121964.
Texto completoMirza, Nida, Smita Malhotra y Anupam Sibal. "A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child". Journal of Child Science 10, n.º 01 (enero de 2020): e134-e136. http://dx.doi.org/10.1055/s-0040-1717106.
Texto completoGómez-Mellado, Valentina E., Jung-Chin Chang, Kam S. Ho-Mok, Carmen Bernardino Morcillo, Remco H. J. Kersten, Ronald P. J. Oude Elferink, Arthur J. Verhoeven y Coen C. Paulusma. "ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells". International Journal of Molecular Sciences 23, n.º 20 (15 de octubre de 2022): 12344. http://dx.doi.org/10.3390/ijms232012344.
Texto completoDimopoulou, Anastasia, Dimitra Dimopoulou, Nikolaos Zavras, Eleni Kontaki, George Vaos y Smaragdi Fessatou. "Ileal bypass for pruritus relief in a 3-year-old boy with advanced progressive familial intrahepatic cholestasis: how effective is it?" Folia Medica 65, n.º 1 (28 de febrero de 2023): 183–85. http://dx.doi.org/10.3897/folmed.65.e73628.
Texto completoAbi Radi Abou Jaoudeh, Rasha, Brendan McCleary y Kadakkal Radhakrishnan. "Low Gamma-Glutamyl Transferase Cholestasis in a Patient With X-Linked Myotubular Myopathy and Crohn's Disease". ACG Case Reports Journal 11, n.º 1 (enero de 2024): e01240. http://dx.doi.org/10.14309/crj.0000000000001240.
Texto completoTibesar, Eric, Christine Karwowski, Paula Hertel, Ann Scheimann y Wikrom Karnsakul. "Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice". Case Reports in Pediatrics 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/185923.
Texto completoSaleem, Komal, Qingbo Cui, Tahir Zaib, Siqi Zhu, Qian Qin, Yusi Wang, Jinxi Dam et al. "Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3". Disease Markers 2020 (16 de junio de 2020): 1–10. http://dx.doi.org/10.1155/2020/6292818.
Texto completoСергиенко, Е. Н., О. Н. Романова, А. А. Ключарева, А. В. Сукало, С. К. Клецкий, А. М. Кашкан, Л. И. Кастюкевич y Е. П. Михаленко. "Clinical Case of the Byler’s Syndrome in a Child". Педиатрия. Восточная Европа, n.º 4 (24 de enero de 2021): 578–88. http://dx.doi.org/10.34883/pi.2020.8.4.009.
Texto completoUtagawa, Claudia Yamada, Ana Clara Gonçalves Oliveira, Isabela Ribeiro Pereira y Thamires Pereira Noronha. "Colestase intra-hepática familiar progressiva: relato de dois casos". Revista da Faculdade de Ciências Médicas de Sorocaba 19, n.º 3 (13 de noviembre de 2017): 160. http://dx.doi.org/10.23925/1984-4840.2017v19i3a13.
Texto completoPanasiti, Ilenia, Silvana Briuglia, Stefano Costa y Lucia Caminiti. "Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child". BMJ Case Reports 12, n.º 10 (octubre de 2019): e230152. http://dx.doi.org/10.1136/bcr-2019-230152.
Texto completoSokol, Ronald J. "Molecular Chaperones as Therapy for PFIC". Journal of Pediatric Gastroenterology and Nutrition 62, n.º 3 (marzo de 2016): 360–62. http://dx.doi.org/10.1097/mpg.0000000000001109.
Texto completoThompson, R. J. "P0019 PP SURGICAL MANAGEMENT OF PFIC". Journal of Pediatric Gastroenterology and Nutrition 39, Supplement 1 (junio de 2004): S63. http://dx.doi.org/10.1097/00005176-200406001-00143.
Texto completoVolynets, Galina V. "FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN: PROBLEMS AND PROSPECTS". Russian Pediatric Journal 22, n.º 6 (15 de diciembre de 2019): 388–94. http://dx.doi.org/10.18821/1560-9561-2019-22-6-388-394.
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