Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009;4:1.
Article
Google Scholar
Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2012;36(Suppl 1):S26–35.
Article
CAS
Google Scholar
Martínez-García J, Molina A, González-Aseguinolaza G, Weber ND, Smerdou C. Gene therapy for acquired and genetic cholestasis. Biomedicines. 2022;10(6):1238.
Article
Google Scholar
Alam S, Lal BB. Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3. Outcome and therapeutic strategies. World J Hepatol. 2022;14(1):98–118.
Article
Google Scholar
Falguières T, Aït-Slimane T, Housset C, Maurice M. ABCB4. Insights from pathobiology into therapy. Clin Res Hepatol Gastroenterol. 2014;38(5):557–63.
Article
Google Scholar
Oude Elferink RPJ, Paulusma CC. Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Pflugers Arch. 2007;453(5):601–10.
Article
CAS
Google Scholar
Bull LN, Thompson RJ. Progressive familial intrahepatic cholestasis. Clin Liver Dis. 2018;22(4):657–69.
Article
Google Scholar
Venot Q, Delaunay JL, Fouassier L, Delautier D, Falguières T, Housset C, et al. A PDZ-like motif in the biliary transporter ABCB4 interacts with the scaffold protein EBP50 and regulates ABCB4 cell surface expression. PLoS ONE. 2016;11(1): e0146962.
Article
Google Scholar
Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol. 2014;4(1):25–36.
Article
Google Scholar
Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, et al. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet. 2007;15(12):1230–8.
Article
CAS
Google Scholar
Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology. 2001;120(6):1448–58.
Article
CAS
Google Scholar
Fang LJ, Wang XH, Knisely AS, Yu H, Lu Y, Liu LY, et al. Chinese children with chronic intrahepatic cholestasis and high γ-glutamyl transpeptidase: clinical features and association with ABCB4 mutations. J Pediatr Gastroenterol Nutr. 2012;55(2):150–6.
Article
CAS
Google Scholar
Khabou B, Mahjoub B, Barbu V, Balhoudi N, Wardani A, Sfar MT, et al. Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. Clin Chim Acta. 2018;486:122–8.
Article
CAS
Google Scholar
Schatz SB, Jüngst C, Keitel-Anselmo V, Kubitz R, Becker C, Gerner P, et al. Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. Hepatol Commun. 2018;2(5):504–14.
Article
CAS
Google Scholar
Al-Hussaini A, Lone K, Bashir MS, Alrashidi S, Fagih M, Alanazi A, et al. ATP8B1, ABCB11, and ABCB4 genes defects: novel mutations associated with cholestasis with different phenotypes and outcomes. J Pediatr. 2021;236:113-23.e2.
Article
CAS
Google Scholar
Chen HL, Chang PS, Hsu HC, Lee JH, Ni YH, Hsu HY, et al. Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect? Pediatr Res. 2001;50(1):50–5.
Article
CAS
Google Scholar
Giovannoni I, Santorelli FM, Candusso M, Di Rocco M, Bellacchio E, Callea F, et al. Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3. Dig Liver Dis. 2011;43(7):567–70.
Article
CAS
Google Scholar
Kubitz R, Bode J, Erhardt A, Graf D, Kircheis G, Müller-Stöver I, et al. Cholestatic liver diseases from child to adult: the diversity of MDR3 disease. Z Gastroenterol. 2011;49(6):728–36.
Article
CAS
Google Scholar
Dzagania T, Engelmann G, Häussinger D, Schmitt L, Flechtenmacher C, Rtskhiladze I, et al. The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3. Gene. 2012;506(1):141–5.
Article
CAS
Google Scholar
Ramraj R, Finegold MJ, Karpen SJ. Progressive familial intrahepatic cholestasis type 3: overlapping presentation with Wilson disease. Clin Pediatr (Phila). 2012;51(7):689–91.
Article
Google Scholar
Gordo-Gilart R, Andueza S, Hierro L, Martínez-Fernández P, D’Agostino D, Jara P, et al. Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. Gut. 2015;64(1):147–55.
Article
CAS
Google Scholar
Sun HZ, Shi H, Zhang SC, Shen XZ. Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. World J Gastroenterol. 2015;21(2):699–703.
Article
Google Scholar
Boga S, Jain D, Schilsky ML. Presentation of progressive familial intrahepatic cholestasis type 3 mimicking Wilson disease: molecular genetic diagnosis and response to treatment. Pediatr Gastroenterol Hepatol Nutr. 2015;18(3):202–8.
Article
Google Scholar
Delaunay JL, Durand-Schneider AM, Dossier C, Falguières T, Gautherot J, Davit-Spraul A, et al. A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3. Hepatology. 2016;63(5):1620–31.
Article
CAS
Google Scholar
Deng M, Guo L, Song Y. clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35(5):686–90.
Google Scholar
Li A, Dong Y, Xu Z, Wang F, Wang L, Yan J, et al. Progressive familial intrahepatic cholestasis type 3: a report of two cases in one pedigree. J Clin Hepatol. 2020;36(7):1601–4.
Google Scholar
Saleem K, Cui Q, Zaib T, Zhu S, Qin Q, Wang Y, et al. Evaluation of a novel missense mutation in gene causing progressive familial intrahepatic cholestasis type 3. Dis Mark. 2020;2020:6292818.
Google Scholar
Zhang W, Lin R, Lu Z, Sheng H, Xu Y, Li X, et al. Phenotypic and molecular characteristics of children with progressive familial intrahepatic cholestasis in South China. Pediatr Gastroenterol Hepatol Nutr. 2020;23(6):558–66.
Article
Google Scholar
Bai J, Li L, Liu H, Liu S, Bai L, Ning H, et al. A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report. Ann Transl Med. 2021;9(5):426.
Article
Google Scholar
Lipiński P, Ciara E, Jurkiewicz D, Płoski R, Wawrzynowicz-Syczewska M, Pawłowska J, et al. Progressive familial intrahepatic cholestasis type 3: report of four clinical cases, novel ABCB4 variants and long-term follow-up. Ann Hepatol. 2021;25: 100342.
Article
Google Scholar
Küçükçongar Yavaş A, Çavdarlı B, Ünal Uzun Ö, Uncuoğlu A, Gündüz M. A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. J Pediatr Endocrinol Metab. 2020;33(5):665–9.
Article
Google Scholar
Degiorgio D, Corsetto PA, Rizzo AM, Colombo C, Seia M, Costantino L, et al. Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction. Eur J Hum Genet. 2014;22(5):633–9.
Article
CAS
Google Scholar
Morita SY, Kobayashi A, Takanezawa Y, Kioka N, Handa T, Arai H, et al. Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4. Hepatology. 2007;46(1):188–99.
Article
CAS
Google Scholar
Park HJ, Kim TH, Kim SW, Noh SH, Cho KJ, Choi C, et al. Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. Sci Rep. 2016;6:26872.
Article
CAS
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.
Article
Google Scholar
Prescher M, Kroll T, Schmitt L. ABCB4/MDR3 in health and disease–at the crossroads of biochemistry and medicine. Biol Chem. 2019;400(10):1245–59.
Article
CAS
Google Scholar
Delaunay JL, Bruneau A, Hoffmann B, Durand-Schneider AM, Barbu V, Jacquemin E, et al. Functional defect of variants in the adenosine triphosphate–binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770). Hepatology. 2017;65(2):560–70.
Article
CAS
Google Scholar
Stättermayer AF, Halilbasic E, Wrba F, Ferenci P, Trauner M. Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults. J Hepatol. 2020;73(3):651–63.
Article
Google Scholar
Lonardo A, Romagnoli D. Gamma glutamyl transferase: a novel cardiovascular outfit for an old liver test. Indian J Med Res. 2016;143(1):4–7.
Article
Google Scholar
Sotil EU, Jensen DM. Serum enzymes associated with cholestasis. Clin Liver Dis. 2004;8(1):41–54.
Article
Google Scholar
van Mil SW, Houwen RH, Klomp LW. Genetics of familial intrahepatic cholestasis syndromes. J Med Genet. 2005;42(6):449–63.
Article
Google Scholar
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis. 2010;30(2):134–46.
Article
CAS
Google Scholar
van der Woerd WL, Houwen RH, van de Graaf SF. Current and future therapies for inherited cholestatic liver diseases. World J Gastroenterol. 2017;23(5):763–75.
Article
Google Scholar
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH. Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. J Biomed Sci. 2018;25(1):75.
Article
CAS
Google Scholar
Vitale G, Gitto S, Vukotic R, Raimondi F, Andreone P. Familial intrahepatic cholestasis: new and wide perspectives. Dig Liver Dis. 2019;51(7):922–33.
Article
CAS
Google Scholar
Jhaveri MA, Kowdley KV. New developments in the treatment of primary biliary cholangitis–role of obeticholic acid. Ther Clin Risk Manag. 2017;13:1053–60.
Article
CAS
Google Scholar
Manley S, Ding W. Role of farnesoid X receptor and bile acids in alcoholic liver disease. Acta Pharm Sin B. 2015;5(2):158–67.
Article
Google Scholar
Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, et al. Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. J Pediatr Gastroenterol Nutr. 2011;52(1):73–83.
Article
CAS
Google Scholar
Englert C, Grabhorn E, Richter A, Rogiers X, Burdelski M, Ganschow R. Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation. 2007;84(10):1361–3.
Article
Google Scholar
Wei G, Cao J, Huang P, An P, Badlani D, Vaid KA, et al. Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4 mouse model of PFIC3. J Hepatol. 2021;74(6):1416–28.
Article
CAS
Google Scholar