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| 1 | Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature显示文摘BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field. | Mariano Piazzolla Nicola Castellaneta Antonio Novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo | 2020 | World Journal of Hepatology2020，12，2： | 3 |
| 2 | Role of phosphoinositide 3-kinase and extracellular signal-regulated kinase pathways in granulocyte macrophage-colony-stimulating factor failure to delay fas-induced neutrophil apoptosis in elderly humans显示文摘 | TORTORELLA C SIMONE O PIAZZOLLA G | | 0，，11： | 1 |
| 3 | Immunoresponsiveness in chronic hepatitis C patients; correlation between tissue and serum findings显示文摘 | Piazzolla G Tortorella C Fiore G | 1998 | Immunopharmacol Immunotoxicol1998，20，3： | 1 |
| 4 | Relationship between in-terferon-gamma,interleukin-10,andinterleukin-12 production in chronic hepatitis C and invitroeffects of interferon -alpha显示文摘 | Piazzolla G Tortorella C Schiraldi O | 2000 | J Clin Immunol2000，20，1： | 1 |
| 5 | First-harmonic diffusion model for holographic grating formation in photopolymers显示文摘 | PIAZZOLLA S JENKINS B K | 2000 | J Opt Soc Am B2000，17，7： | 1 |
| 6 | Relationship between T lymphocyte responsiveness and T - helperl/T - helper2 type cytokine release in chronic hepatitis C: a critical reappraisa显示文摘 | Antonaci S Piazzolla G Napoli N | 2001 | Microbios2001，106，415： | 1 |
| 7 | Relationship between interferon - a, interleukin - 10, and interleukin - 12 production in chronic hepatitis C and in vitro effects of interferon - α 显示文摘 | PIAZZOLLA G TORTORELLA C SCHIRALDI O | 2000 | J Clin Immunol2000，20，： | 1 |
| 8 | Treatment optimization and prediction of HCV clearance in patients with acute HCV infection<!-- Doctopic: VH -->显示文摘 | Alessandra Mangia Rosanna Santoro Massimiliano Copetti Marco Massari Valeria Piazzolla Enea Spada Giuseppe Cappucci Gabriele Missale Leonardo Mottola Ernesto Agostinacchio Lazzaro di Mauro Ornella Zuccaro Patrizia Maio Fabio Pellegrini Antonella Folgori C | 2013 | Journal of Hepatology2013，，2： | 1 |
| 9 | Occupational dermatitis from isothiazolinones in the nylon production 显示文摘 | V ALSECCHI R LEGHISSA P PIAZZOLLA S et aI | 1993 | Dermatology1993，187，2： | 1 |
| 10 | Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR显示文摘 | Thompson AJ Santoro R Piazzolla V | | 0，，： | 1 |
| 11 | Relationship between interferon- gamma, interleukin- 10, and interleukin- 12 production in chronic hepatitis C and in vitro effects of interferon - alpha显示文摘 | Piazzolla G Tortorella C Schiraldi O | 2000 | J Clin Immunol2000，20，1： | 1 |
| 12 | Relationship between interferon - gamma, interleukin - 10, and interleukin - 12 produetion in chronic hepatitis C and in vitro effects of interferon - alpha显示文摘 | Piazzolla G Tortorella C SehiraldiO | 2000 | J Clin Immunol2000，20，1： | 1 |
| 13 | Interleukin-12p40/p70 ratio and in vivo responsiveness to IFN-alpha treatment in chronic hepatitis C显示文摘 | Piazzolla G Tortorella C Fiore G et 01 | 2001 | 1 Interferon Cytokine Res2001，21，7： | 1 |
| 14 | Developmentand validation of a quantitative frame of reference for meat, sensoryevaluation显示文摘 | BRAGHIERI A PIAZZOLLA N CARLUCCI A | 2012 | Food Quality and Preference2012，25，1： | 1 |
| 15 | Apoptotic effects of a chimeric plant virus carrying a mimotope of the hepatitis C virus hypervariable region 1:role of caspases and endoplasmic reticulum-stress显示文摘 | Piazzolla G Nuzzaci M Vitti A | | 0，，04： | 1 |
| 16 | Essential role of B-Raf in ERK activation during extraembryonic development 显示文摘 | Galabova-Kovacs G Matzen D Piazzolla D | 2006 | Proc Natl Acad Sci USA2006，103，： | 1 |
| 17 | Age-related effects of oxidative metabolism and cAMP signaling on neutrophil apoptosis显示文摘 | Tortorella C Piazzolla G Spaccavento F | 1999 | Mech Age ing Dev1999，110，： | 1 |
| 18 | Relationship between interferon-gamma, interleukin-10, and interleukin-12 production in chronic hepatitis C and in vitro effects of interferon-alpha 显示文摘 | Piazzolla G Tortorella C Schiraldi O | 2000 | J Clin Immunol2000，20，1： | 1 |
| 19 | Development and validation of a quantitative frame of reference for meat sensory evaluation显示文摘 | BRAGHIERI A PIAZZOLLA N CARLUCCI A | 2012 | Food Quality and Preference2012，25，1： | 1 |
| 20 | Raf-1 regulates Rho signaling and cell migration显示文摘 | EHRENREITER K PIAZZOLLA D VELAMOOR V | 2005 | J Cell Biol2005，168，6： | 1 |
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