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Progressive familial intrahepatic cholestasis type 1.
Paulusma CC, Elferink RP, Jansen PL. Paulusma CC, et al. Semin Liver Dis. 2010 May;30(2):117-24. doi: 10.1055/s-0030-1253221. Epub 2010 Apr 26. Semin Liver Dis. 2010. PMID: 20422494 Review.
Progressive familial intrahepatic cholestasis type 1 is a rare genetic liver disease that presents in the first year of life. ...Mutations in ATP8B1 also cause benign recurrent intrahepatic cholestasis, a milder variant of t …
Progressive familial intrahepatic cholestasis type 1 is a rare genetic liver disease that presents in the first …
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH. van der Woerd WL, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955958 Review.
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and ABCB4, respectively. ...Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result bo …
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and …
Genetic determinants of cholangiopathies: Molecular and systems genetics.
Reichert MC, Hall RA, Krawczyk M, Lammert F. Reichert MC, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt B):1484-1490. doi: 10.1016/j.bbadis.2017.07.029. Epub 2017 Jul 27. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 28757171 Free article. Review.
Familial cholangiopathies are rare but potentially severe diseases. Their spectrum ranges from fairly benign conditions as, for example, benign recurrent intrahepatic cholestasis to low-phospholipid associated cholelithiasis and progressive fami …
Familial cholangiopathies are rare but potentially severe diseases. Their spectrum ranges from fairly benign conditions as, for examp …
Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.
Harris MJ, Le Couteur DG, Arias IM. Harris MJ, et al. J Gastroenterol Hepatol. 2005 Jun;20(6):807-17. doi: 10.1111/j.1440-1746.2005.03743.x. J Gastroenterol Hepatol. 2005. PMID: 15946126 Review.
Progressive familial intrahepatic cholestasis types 1, 2 and 3 are childhood diseases of the liver. Benign recurrent intrahepatic cholestasis is predominantly an adult form with similar clinical symptoms that spontaneously resolve. …
Progressive familial intrahepatic cholestasis types 1, 2 and 3 are childhood diseases of the liver. Benign re …
[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
Korneenko TV, Pestov NB, Okkelman IA, Modyanov NN, Shakhparonov MI. Korneenko TV, et al. Bioorg Khim. 2015 Jan-Feb;41(1):3-12. doi: 10.1134/s1068162015010070. Bioorg Khim. 2015. PMID: 26050466 Review. Russian.
P4-ATP-ases comprise an interesting family among P-type ATP-ases, since they are thought to play a major role in the transfer of phospholipids such as phosphatydylserine from the outer leaflet to the inner leaflet. ...Among P4-ATP-ases a special place is occupied by ATP8B1 …
P4-ATP-ases comprise an interesting family among P-type ATP-ases, since they are thought to play a major role in the transfer of phos …
Genetic cholestasis: lessons from the molecular physiology of bile formation.
Jansen PL, Müller M. Jansen PL, et al. Can J Gastroenterol. 2000 Mar;14(3):233-8. doi: 10.1155/2000/514172. Can J Gastroenterol. 2000. PMID: 10758420 Free article. Review.
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. ...Benign recurrent intrahepatic cholestasis (BRIC) is linked to a mutation in the same familial intrahepatic …
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. .. …
FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
van Mil SW, Klomp LW, Bull LN, Houwen RH. van Mil SW, et al. Semin Liver Dis. 2001 Nov;21(4):535-44. doi: 10.1055/s-2001-19034. Semin Liver Dis. 2001. PMID: 11745041 Review.
FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholestasis due to mutations in the ATP8B1 gene (initially named FIC1). Classically, FIC1 disease comprises two different disorders: progressive …
FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholesta …
Genetic cholestasis, causes and consequences for hepatobiliary transport.
Jansen PL, Sturm E. Jansen PL, et al. Liver Int. 2003 Oct;23(5):315-22. doi: 10.1034/j.1478-3231.2003.00856.x. Liver Int. 2003. PMID: 14708891 Review.
Together these changes appear to serve mainly a hepatoprotective function. Progressive familial intrahepatic cholestasis (PFIC) results from mutations in various genes encoding hepatobiliary transport proteins. Mutations in the FIC1 gene cause relapsing or permanent …
Together these changes appear to serve mainly a hepatoprotective function. Progressive familial intrahepatic cholestasis (PFIC …
Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.
Colombo C, Okolicsanyi L, Strazzabosco M. Colombo C, et al. Dig Liver Dis. 2000 Mar;32(2):152-9. doi: 10.1016/s1590-8658(00)80403-x. Dig Liver Dis. 2000. PMID: 10975791 Review.
The heterogeneous progressive familial intrahepatic cholestasis can now be separated into different genetic diseases. FIC1-defective progressive familial intrahepatic cholestasis (previously Byler disease) is determined by mutations in the FIC1 gene, c …
The heterogeneous progressive familial intrahepatic cholestasis can now be separated into different genetic diseases. FIC1-def …