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Relevant bibliographies by topics / Pfic2

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Academic literature on the topic 'Pfic2'

Author: Grafiati

Published: 20 April 2024

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Journal articles on the topic "Pfic2"

1

Kim, Kang Ho, Jong Min Choi, Feng Li, et al. "Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis." Endocrinology 159, no. 6 (2018): 2435–46. http://dx.doi.org/10.1210/en.2018-00110.

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Abstract Progressive familial intrahepatic cholestasis (PFIC) is a genetically heterogeneous disorder of bile flow disruption due to abnormal canalicular transport or impaired bile acid (BA) metabolism, causing excess BA accumulation and liver failure. We previously reported an intrahepatic cholestasis mouse model based on loss of function of both farnesoid X receptor (FXR; NR1H4) and a small heterodimer partner (SHP; NR0B2) [double knockout (DKO)], which has strong similarities to human PFIC5. We compared the pathogenesis of DKO livers with that of another intrahepatic cholestasis model,Bsep−

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2

Kagawa, Tatehiro, Norihito Watanabe, Kaori Mochizuki, et al. "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, no. 1 (2008): G58—G67. http://dx.doi.org/10.1152/ajpgi.00367.2007.

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Progressive familial cholestasis (PFIC) 2 and benign recurrent intrahepatic cholestasis (BRIC) 2 are caused by mutations in the bile salt export pump (BSEP, ABCB11) gene; however, their prognosis differs. PFIC2 progresses to cirrhosis and requires liver transplantation, whereas BRIC2 is clinically benign. To identify the molecular mechanism(s) responsible for the phenotypic differences, eight PFIC2 and two BRIC2 mutations were introduced in rat Bsep, which was transfected in MDCK II cells. Taurocholate transport activity, protein expression, and subcellular distribution of these mutant protein

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Mareux, Elodie, Martine Lapalus, Amel Ben Saad, et al. "In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators." International Journal of Molecular Sciences 23, no. 18 (2022): 10758. http://dx.doi.org/10.3390/ijms231810758.

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ABCB11 is responsible for biliary bile acid secretion at the canalicular membrane of hepatocytes. Variations in the ABCB11 gene cause a spectrum of rare liver diseases. The most severe form is progressive familial intrahepatic cholestasis type 2 (PFIC2). Current medical treatments have limited efficacy. Here, we report the in vitro study of Abcb11 missense variants identified in PFIC2 patients and their functional rescue using cystic fibrosis transmembrane conductance regulator potentiators. Three ABCB11 disease-causing variations identified in PFIC2 patients (i.e., A257V, T463I and G562D) wer

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Davit-Spraul, Anne, Monique Fabre, Sophie Branchereau, et al. "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, no. 5 (2010): 1645–55. http://dx.doi.org/10.1002/hep.23539.

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Lam, Ping, Claire L. Pearson, Carol J. Soroka, Shuhua Xu, Albert Mennone, and 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, no. 5 (2007): C1709—C1716. http://dx.doi.org/10.1152/ajpcell.00327.2007.

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Human BSEP (ABCB11) mutations are the molecular basis for at least three clinical forms of liver disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), and intrahepatic cholestasis of pregnancy (ICP). To better understand the pathobiology of these disease phenotypes, we hypothesized that different mutations may cause significant differences in protein defects. Therefore we compared the effect of two PFIC2 mutations (D482G, E297G) with two BRIC2 mutations (A570T and R1050C) and one ICP mutation (N591S) with regard to the

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6

Evason, Kimberley, Kevin E. Bove, Milton J. Finegold, et al. "Morphologic Findings in Progressive Familial Intrahepatic Cholestasis 2 (PFIC2)." American Journal of Surgical Pathology 35, no. 5 (2011): 687–96. http://dx.doi.org/10.1097/pas.0b013e318212ec87.

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7

Goto, Kenji, Kohachiro Sugiyama, Tokio Sugiura, et al. "Bile Salt Export Pump Gene Mutations in Two Japanese Patients With Progressive Familial Intrahepatic Cholestasis." Journal of Pediatric Gastroenterology and Nutrition 36, no. 5 (2003): 647–50. http://dx.doi.org/10.1002/j.1536-4801.2003.tb08089.x.

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ABSTRACTBackgroundIn recent years, progressive familial intrahepatic cholestasis has been classified into at least three types by genetic analysis: PFIC1, PFIC2, and MDR3. Liver transplantation is effective for treating patients with this intractable syndrome. Confirming the correct diagnosis is of paramount importance because prognosis after transplantation differs with the genetic type of the disease.MethodsSynthesis of cDNA was accomplished using RNA extracted from liver tissue of two Japanese patients with progressive familial intrahepatic cholestasis. Polymerase chain reaction was perform

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Gooijert, K. E. R., R. Havinga, H. Wolters, et al. "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, no. 5 (2015): G450—G457. http://dx.doi.org/10.1152/ajpgi.00391.2014.

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Human bile salt export pump ( BSEP) mutations underlie progressive familial intrahepatic cholestasis type 2 (PFIC2). In the PFIC2 animal model, Bsep−/−mice, biliary secretion of bile salts (BS) is decreased, but that of phospholipids (PL) and cholesterol (CH) is increased. Under physiological conditions, the biliary secretion of PL and CH is positively related (“coupled”) to that of BS. We aimed to elucidate the mechanism of increased biliary lipid secretion in Bsep−/−mice. The secretion of the BS tauro-β-muricholic acid (TβMCA) is relatively preserved in Bsep−/−mice. We infused Bsep−/−and Bse

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Mushiake, S., K. Kawamoto, N. Kobayashi, et al. "P0194 A CASE OF PFIC2 WHO UNDERWENT LIVING-RELATED ORTHOTOPIC LIVER TRANSPLANTATION." Journal of Pediatric Gastroenterology and Nutrition 39, Supplement 1 (2004): S132. http://dx.doi.org/10.1097/00005176-200406001-00318.

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Rumbo, Carolina, Juan P. Santilli, Julio J. Trentadue, and Gabriel E. Gondolesi. "Double Heterozygous Mutation Causing PFIC2 with Synchronic Hepatocellular Carcinomas before Two Years of Age." Transplantation 102 (July 2018): S848. http://dx.doi.org/10.1097/01.tp.0000543914.64104.9e.

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Dissertations / Theses on the topic "Pfic2"

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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.

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ABCB11/BSEP est le transporteur des acides biliaires, localisé au niveau du pôle canaliculaire des hépatocytes. Les mutations de ce gène sont responsables de la cholestase familiale intrahépatique progressive de type 2.Au cours de ma thèse, j’ai évalué la capacité des aminoglycosides et du PTC124 à induire la translecture de codons stop prématurés, l’adressage et la fonction de mutants non-sens et faux sens de Bsep ainsi que l’effet d’une bithérapie (translecture+chaperone).Dans nos modèles cellulaires, la gentamicine était capable d’induire la translecture du codon-stop prématuré du mutant no

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Mareux, Elodie. "Pharmacothérapie ciblée des déficits en ABCB11." Electronic Thesis or Diss., université Paris-Saclay, 2021. http://www.theses.fr/2021UPASL083.

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ABCB11/BSEP (Bile Salt Export Pump) est exprimé à la membrane canaliculaire des hépatocytes. Sa fonction de transport d’acides biliaires dans la bile est essentielle à la sécrétion biliaire. Près de 400 variations du gène ABCB11 ont été identifiées et sont associées à des maladies hépatobiliaires rares, la plus sévère étant la cholestase intrahépatique progressive familiale de type 2 (PFIC2). L’efficacité des traitements médicaux est limitée. Par conséquent, une transplantation hépatique est indiquée avant l’âge adulte pour près de deux tiers des patients. Dans ce contexte, l’identification de

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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.

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ABCB4/MDR3 est le transporteur canaliculaire de la phosphatidylcholine. Il est exprimé à la membrane canaliculaire des hépatocytes et est essentiel à la sécrétion biliaire. Un défaut d’ABCB4 entraîne des pathologies hépatobiliaires, dont la PFIC3 (cholestase intrahépatique familiale progressive de type 3), caractérisée par une cholestase précoce qui progresse vers la cirrhose et l’insuffisance hépatique avant l’âge adulte. Dans la majorité des cas, la seule thérapie efficace est la transplantation hépatique. Cette thèse s’intéresse aux rôles de l’extrémité C-terminale dans la régulation de la

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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.

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Among contemporary gene transfer vehicles, non-pathogenic recombinant adeno-associated viral vectors (rAAV) show exceptional promise for liver-targeted therapeutic approaches. The broad focus of studies described in this thesis was the development of rAAV-mediated gene therapy to treat Progressive Familial Intrahepatic Cholestasis type 3. This autosomal recessive condition, caused by mutations of ABCB4, results in deficient hepatocanalicular phosphatidylcholine translocation and leads to progressive cholestatic liver disease with approximately 50% of patients requiring liver transplantation be

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MATARAZZO, 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.

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La colestasi intraepatica è una sindrome clinica e bioumorale secondaria a disturbi congeniti o acquisiti della formazione e secrezione canalicolare degli acidi biliari. Le colestasi progressive familiari intraepatiche (PFIC) rappresentano la causa di colestasi nel 10-15% dei casi e mutazioni in tre geni sono state classicamente identificate: le PFIC tipo 1 e 2, causate da mutazioni nei geni ATP8B1 e ABCB11, caratterizzate da livelli normali di GGT e la PFIC di tipo 3, causata da mutazioni nel gene ABCB4, con GGT elevate. Negli ultimi anni, le tecniche di Next Generation Sequencing hanno perm

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Books on the topic "Pfic2"

1

O'Donnell, Thomas A. PFICs. Tax Management, 2006.

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Pfin2. South Western Educational Publishing, 2011.

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3

Wali, Sami. Applied Nanomedicine. Membrane Microdomain Disorganization Disorders. Volume 17. ADPKD and PFIC1: Diseases with Persistent or Impaired Raft Building. Wali, Sami, 2021.

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Book chapters on the topic "Pfic2"

1

Davit-Spraul, Anne, Marine Beinat, Dominique Debray, Agnes Rötig, Abdelhamid Slama, and Emmanuel Jacquemin. "Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis." In JIMD Reports. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_278.

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2

Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, et al. "PFIC Type 1." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7852.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, et al. "PFIC Type 2." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7853.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, et al. "PFIC Type 3." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7854.

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5

"PFIC." In Encyclopedia of Clinical Neuropsychology. Springer New York, 2011. http://dx.doi.org/10.1007/978-0-387-79948-3_5248.

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6

"Byler Disease (PFIC1, 18q21)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_2132.

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7

Pandey, Chandra, Soumya Nath, and Mukesh Tripathi. "Progressive Familial Intrahepatic Cholestasis (PFIC)." In Hepatic and Biliary Diseases: Anesthesiologists’ Perspective. Jaypee Brothers Medical Publishers (P) Ltd., 2012. http://dx.doi.org/10.5005/jp/books/11585_33.

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Gissen, Paul, and Eamonn R. Maher. "VPS33B and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0161.

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Abstract Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome (OMIM 208085) is a severe multisystem autosomal recessive disorder 2rst described in the 1970s, and to date, approximately 50 cases of ARC have been reported (see Gissen et al., 2006 and references within). Although the variability in liver biopsy 2ndings initially suggested possible genetic heterogeneity, Horslen et al., 1994 coined the eponym of ARC syndrome and reported that although the hepatic changes may show intrafamilial variability, the other features were usually consistent. Subsequently a high prevalence of ichthyosis, abnormal platelet morphology, intracranial defects, and diarrhea was noted. Many reported families were consanguineous, consistent with autosomal recessive inheritance. Although the hepatic features of ARC and progressive familial intrahepatic cholestasis (PFIC) overlap, linkages to PFIC-1 and PFIC-2 loci were excluded, and the locus for ARC syndrome was mapped to chromosome 15q26.1 using autozygosity mapping approach and germline mutations were identi2ed in VPS33B (Gissen et al., 2004). VPS33B is a homologue of yeast vps33 gene involved in vacuolar biogenesis and in vesicular traf2cking at different stages of the endocytosis and exocytosis (Gallwitz et al., 2003). Yeast vps33 encodes a class C vacuolar protein sorting (vps) protein whose inactivation results in severe cellular defects including temperature-sensitive growth restriction, abnormalities in the amino acid pool, and vacuolar biogenesis defects. VPS33B contains a Sec1- like domain and belongs to the family of SM (Sec1/Munc18) proteins that bind tightly to members of the syntaxin family of target-SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors or SNAP receptor proteins). SM proteins can exert inMuence upon the SNARE-complex formation and may provide speci2city to the vesicular fusion events.

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Keitel-Anselmino, Verena. "Behandlung progressiv-familiärer intrahepatischer Cholestasen (PFIC)." In Therapie-Handbuch - Gastroenterologie und Hepatologie. Elsevier, 2021. http://dx.doi.org/10.1016/b978-3-437-23847-5.00050-8.

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Conference papers on the topic "Pfic2"

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Grimps, P., S. Hametner-Schreil, I. Soellradl, M. Weitersberger, and D. Schiller. "Die Krux der PFIC–Differentialdiagnose zum (vorgetäuschten) Mb. Wilson–Ein Fallbericht." In 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.

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Behrendt, Annika, Jan Stindt, Eva-Doreen Pfister, et al. "Impaired transitioning from an inactive to an active state of FXR underlies a PFIC5 phenotype." In 40. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2024. http://dx.doi.org/10.1055/s-0043-1777501.

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3

Özen, Hasan, Etienne Sokal, Florence Lacaille, et al. "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)." In 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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