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Artykuły w czasopismach na temat "Pfic2"
Kim, Kang Ho, Jong Min Choi, Feng Li, Armando Arizpe, Clavia Ruth Wooton-Kee, Sayeepriyadarshini Anakk, Sung Yun Jung, Milton J. Finegold i David D. Moore. "Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis". Endocrinology 159, nr 6 (26.04.2018): 2435–46. http://dx.doi.org/10.1210/en.2018-00110.
Pełny tekst źródłaKagawa, Tatehiro, Norihito Watanabe, Kaori Mochizuki, Asano Numari, Yoshie Ikeno, Johbu Itoh, Hirotoshi Tanaka, Irwin M. Arias i 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, nr 1 (styczeń 2008): G58—G67. http://dx.doi.org/10.1152/ajpgi.00367.2007.
Pełny tekst źródłaMareux, Elodie, Martine Lapalus, Amel Ben Saad, Renaud Zelli, Mounia Lakli, Yosra Riahi, Marion Almes i in. "In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators". International Journal of Molecular Sciences 23, nr 18 (15.09.2022): 10758. http://dx.doi.org/10.3390/ijms231810758.
Pełny tekst źródłaDavit-Spraul, Anne, Monique Fabre, Sophie Branchereau, Christiane Baussan, Emmanuel Gonzales, Bruno Stieger, Olivier Bernard i 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, nr 5 (28.01.2010): 1645–55. http://dx.doi.org/10.1002/hep.23539.
Pełny tekst źródłaLam, Ping, Claire L. Pearson, Carol J. Soroka, Shuhua Xu, Albert Mennone i 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, nr 5 (listopad 2007): C1709—C1716. http://dx.doi.org/10.1152/ajpcell.00327.2007.
Pełny tekst źródłaEvason, Kimberley, Kevin E. Bove, Milton J. Finegold, A. S. Knisely, Sue Rhee, Philip Rosenthal, Alexander G. Miethke, Saul J. Karpen, Linda D. Ferrell i Grace E. Kim. "Morphologic Findings in Progressive Familial Intrahepatic Cholestasis 2 (PFIC2)". American Journal of Surgical Pathology 35, nr 5 (maj 2011): 687–96. http://dx.doi.org/10.1097/pas.0b013e318212ec87.
Pełny tekst źródłaGoto, Kenji, Kohachiro Sugiyama, Tokio Sugiura, Toshihiro Ando, Fumihiko Mizutani, Koji Terabe, Kyoko Ban i Hajime Togari. "Bile Salt Export Pump Gene Mutations in Two Japanese Patients With Progressive Familial Intrahepatic Cholestasis". Journal of Pediatric Gastroenterology and Nutrition 36, nr 5 (maj 2003): 647–50. http://dx.doi.org/10.1002/j.1536-4801.2003.tb08089.x.
Pełny tekst źródłaGooijert, K. E. R., R. Havinga, H. Wolters, R. Wang, V. Ling, S. Tazuma i 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, nr 5 (1.03.2015): G450—G457. http://dx.doi.org/10.1152/ajpgi.00391.2014.
Pełny tekst źródłaMushiake, S., K. Kawamoto, N. Kobayashi, Y. Etani, Y. Miyoshi, K. Ozono, T. Hasegawa, R. Sumazaki i A. Matsui. "P0194 A CASE OF PFIC2 WHO UNDERWENT LIVING-RELATED ORTHOTOPIC LIVER TRANSPLANTATION". Journal of Pediatric Gastroenterology and Nutrition 39, Supplement 1 (czerwiec 2004): S132. http://dx.doi.org/10.1097/00005176-200406001-00318.
Pełny tekst źródłaRumbo, Carolina, Juan P. Santilli, Julio J. Trentadue i Gabriel E. Gondolesi. "Double Heterozygous Mutation Causing PFIC2 with Synchronic Hepatocellular Carcinomas before Two Years of Age". Transplantation 102 (lipiec 2018): S848. http://dx.doi.org/10.1097/01.tp.0000543914.64104.9e.
Pełny tekst źródłaRozprawy doktorskie na temat "Pfic2"
Amzal, Rachida. "Pharmacothérapie ciblée dans la cholestase intrahépatique familiale progressive de type 2 (PFIC2)". Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS187.
Pełny tekst źródłaABCB11/BSEP is the main bile acids transporter located at the canalicular pole of hepatocytes. Mutations of ABCB11 are responsible for progressive familial intrahepatic cholestasis type 2.During my phD, I evaluated the ability of aminoglycosides and PTC124 to induce readthrough of premature termination codons, targeting and function of nonsense and missense mutants of Bsep and also the effect of combined therapy (readthrough + chaperone).In our expermental models, gentamicin increased readthrough of p.R1090X mutation NIH3T3, HEK293 and Can 10 lines. The resulting full-length protein was detected at the plasma membrane of HEK293 and at the canalicular membrane of Can 10 cells; and was partially functional since it was responsible for increasing the transport activity of 3H-taurocholate (3H-TC) in MDCK clones. These effects were potentiated by the addition of chaperone drugs such as 4-phenylbutyrate (4-PB).I have also demonstrated the ability of new 4-PB derived compounds (MHMPB, OTNC and HMPB) to correct mistrafficking and to increase 3H-TC transport of BsepR1128C missense mutant at lower concentrations than 4-PB. Finally, I showed that other chaperone drugs (GPB, PA, SAHA, and C18) were able to correct mistrafiking of BsepR1128C and to increase its 3H-TC transport activity in MDCK clones
Mareux, Elodie. "Pharmacothérapie ciblée des déficits en ABCB11". Electronic Thesis or Diss., université Paris-Saclay, 2021. http://www.theses.fr/2021UPASL083.
Pełny tekst źródłaABCB11/BSEP (Bile Salt Export Pump) is expressed at the canalicular membrane of hepatocytes. It ensures bile acids secretion into bile which is essential for biliary secretion. Nearly 400 variations of the ABCB11 gene have been identified and are associated with rare hepatobiliary diseases, the most severe being progressive familial intrahepatic cholestasis type 2 (PFIC2). The effectiveness of medical treatments is limited. Consequently, liver transplantation is required before adulthood for almost 2/3 of PFIC2 patients. In this context, the identification of alternative therapies is a major challenge.This thesis focuses on personalized therapeutic strategies to correct the pathological consequences of some ABCB11 variations identified in patients. The A257V, G562D and T463I variations of ABCB11 were studied by 3D molecular modelling. These variations were responsible for a defect in Abcb11 transport function. Ivacaftor (VX-770, Kalydeco®), a clinically approved cystic fibrosis treatment, corrects the activity defect of the three variants.Similar effects were observed with GLPG1837, SBC040 and SBC219, known as potentiators of CFTR (Cystic Fibrosis Transmembrane Conductance Regulator).From a combinatory therapy perspective, we also demonstrated the ability of these potentiators to correct the transport defect of the R1090C and R1090W variants, potential readthrough products of the R1090X nonsense variant. We also evaluated the ability of Elexacaftor (VX-445) and Tezacaftor (VX 661) correctors of CFTR. These correctors, alone or in combination, restored trafficking of the R1128C missense variant, leading to a significant increase in the transport function. Interestingly, the addition of potentiators abolishes this effect.Altogether, this thesis constitutes a proof of concept that molecules with high therapeutic potential can correct the molecular defects of ABCB11 variants. These treatments could increase the pharmacopoeia available for patients with ABCB11 deficiency and thus delay or even suppress the need for liver transplantation
De, Vulpillieres Quitterie. "Rôle de l'extrémité C-terminale d'ABCB4/MDR3 : Interaction avec la protéine à domaines PDZ EBP50". Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066038.
Pełny tekst źródłaABCB4 is a phosphatidylcholine translocator specifically expressed at the bile canalicular membrane of hepatocytes. Mutations of the ABCB4 gene cause progressive familial intrahepatic cholestasis type 3 (PFIC3), a rare genetic disease characterized by early onset of cholestasis and evolution to cirrhosis and liver failure before adulthood. Little is known regarding the molecular mechanisms which control the canalicular expression and membrane stabilization of ABCB4 in hepatocytes. The aim of this work was to study the role of the C-terminal domain of ABCB4 for its expression and stability. potential interaction with EBP50, a PDZ protein highly expressed in hepatocytes. The experimental approach consisted in the deletion of the QNL motif at the C-terminus of ABCB4. The truncation of the QNL motif leds to a reduction of ABCB4 stability by increasing its endocytosis. ABCB4 co-precipitated with EBP50, an interaction that required the QNL motif. This interaction plays a critical role in the canalicular expression and stabilization of ABCB4
Siew, Susan Mei-Ling. "Recombinant AAV-mediated Gene Therapy Approaches to Treat Progressive Familial Intrahepatic Cholestasis Type 3". Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12409.
Pełny tekst źródłaMATARAZZO, LORENZA. "“STUDIO MULTICENTRICO PER LA CARATTERIZZAZIONE GENOTIPICA E FENOTIPICA DELLE COLESTASI EREDITARIE”". Doctoral thesis, Università degli Studi di Trieste, 2020. http://hdl.handle.net/11368/2961248.
Pełny tekst źródłaKsiążki na temat "Pfic2"
O'Donnell, Thomas A. PFICs. [Washington, D.C.]: Tax Management, 2006.
Znajdź pełny tekst źródłaPfin2. South Western Educational Publishing, 2011.
Znajdź pełny tekst źródłaWali, Sami. Applied Nanomedicine. Membrane Microdomain Disorganization Disorders. Volume 17. ADPKD and PFIC1: Diseases with Persistent or Impaired Raft Building. Wali, Sami, 2021.
Znajdź pełny tekst źródłaCzęści książek na temat "Pfic2"
Davit-Spraul, Anne, Marine Beinat, Dominique Debray, Agnes Rötig, Abdelhamid Slama i Emmanuel Jacquemin. "Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis". W JIMD Reports, 17–21. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_278.
Pełny tekst źródłaBraun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber i in. "PFIC Type 1". W Encyclopedia of Molecular Mechanisms of Disease, 1633. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7852.
Pełny tekst źródłaBraun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber i in. "PFIC Type 2". W Encyclopedia of Molecular Mechanisms of Disease, 1633. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7853.
Pełny tekst źródłaBraun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber i in. "PFIC Type 3". W Encyclopedia of Molecular Mechanisms of Disease, 1633. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7854.
Pełny tekst źródła"PFIC". W Encyclopedia of Clinical Neuropsychology, 1930. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-0-387-79948-3_5248.
Pełny tekst źródła"Byler Disease (PFIC1, 18q21)". W Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 244. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_2132.
Pełny tekst źródłaPandey, Chandra, Soumya Nath i Mukesh Tripathi. "Progressive Familial Intrahepatic Cholestasis (PFIC)". W Hepatic and Biliary Diseases: Anesthesiologists’ Perspective, 298. Jaypee Brothers Medical Publishers (P) Ltd., 2012. http://dx.doi.org/10.5005/jp/books/11585_33.
Pełny tekst źródłaGissen, Paul, i Eamonn R. Maher. "VPS33B and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome". W Inborn Errors Of Development, 1410–15. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0161.
Pełny tekst źródłaKeitel-Anselmino, Verena. "Behandlung progressiv-familiärer intrahepatischer Cholestasen (PFIC)". W Therapie-Handbuch - Gastroenterologie und Hepatologie, 356–61. Elsevier, 2021. http://dx.doi.org/10.1016/b978-3-437-23847-5.00050-8.
Pełny tekst źródłaStreszczenia konferencji na temat "Pfic2"
Grimps, P., S. Hametner-Schreil, I. Soellradl, M. Weitersberger i D. Schiller. "Die Krux der PFIC–Differentialdiagnose zum (vorgetäuschten) Mb. Wilson–Ein Fallbericht". W 55. Jahrestagung & 32. Fortbildungskurs der Österreichischen Gesellschaft für Gastroenterologie & Hepatologie–ÖGGH (Hybrid Veranstaltung). Georg Thieme Verlag, 2022. http://dx.doi.org/10.1055/s-0042-1755765.
Pełny tekst źródłaBehrendt, Annika, Jan Stindt, Eva-Doreen Pfister, Kathrin Grau, Stefanie Brands, Carola Dröge, Amelie Stalke i in. "Impaired transitioning from an inactive to an active state of FXR underlies a PFIC5 phenotype". W 40. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2024. http://dx.doi.org/10.1055/s-0043-1777501.
Pełny tekst źródłaÖzen, Hasan, Etienne Sokal, Florence Lacaille, Buket Dalgic, Quanhong Ni, Lise Kjems i Patrick Horn. "L2 Efficacy and safety outcomes with odevixibat in children with progressive familial intrahepatic cholestasis due to deficiencies in multidrug resistance protein 3 (PFIC type 3) or myosin 5B (PFIC type 6)". W Abstracts of the BSPGHAN Annual Meeting, 25–27 April 2022. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/flgastro-2022-bspghan.65.
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