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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1996 2
1997 2
1998 3
1999 3
2000 6
2001 6
2002 4
2003 13
2004 7
2005 4
2006 11
2007 14
2008 12
2009 11
2010 15
2011 14
2012 16
2013 15
2014 24
2015 28
2016 21
2017 20
2018 29
2019 29
2020 22
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291 results
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Page 1
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P. Vitale G, et al. J Gastroenterol. 2018 Aug;53(8):945-958. doi: 10.1007/s00535-017-1423-1. Epub 2017 Dec 13. J Gastroenterol. 2018. PMID: 29238877
BACKGROUND: Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. ...RESULTS: Of 108 patients, …
BACKGROUND: Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholesta
Progressive Familial Intrahepatic Cholestasis.
Bull LN, Thompson RJ. Bull LN, et al. Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3. Clin Liver Dis. 2018. PMID: 30266155 Free article. Review.
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. ...
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, AB …
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine.
Prescher M, Kroll T, Schmitt L. Prescher M, et al. Biol Chem. 2019 Sep 25;400(10):1245-1259. doi: 10.1515/hsz-2018-0441. Biol Chem. 2019. PMID: 30730833 Review.
Among these transporters, ABCB4 is essential for the translocation of phosphatidylcholine (PC) lipids from the inner to the outer leaflet of the canalicular membrane of hepatocytes. ABCB4 deficiency can result in altered PC to bile salt ratios, which led to intrahep …
Among these transporters, ABCB4 is essential for the translocation of phosphatidylcholine (PC) lipids from the inner to the outer lea …
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister ED, Wenning D, Fichtner A, Gotthardt DN, Weiss KH, McKiernan P, Puri RD, Verma IC, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V. Dröge C, et al. J Hepatol. 2017 Dec;67(6):1253-1264. doi: 10.1016/j.jhep.2017.07.004. Epub 2017 Jul 19. J Hepatol. 2017. PMID: 28733223
BACKGROUND & AIMS: The bile salt export pump (BSEP, ABCB11), multidrug resistance protein 3 (MDR3, ABCB4) and the ATPase familial intrahepatic cholestasis 1 (FIC1, ATP8B1) mediate bile formation. ...RESULTS: In 427 patients with suspected inherited cho
BACKGROUND & AIMS: The bile salt export pump (BSEP, ABCB11), multidrug resistance protein 3 (MDR3, ABCB4) and the ATPase f …
Progressive familial intrahepatic cholestasis.
Srivastava A. Srivastava A. J Clin Exp Hepatol. 2014 Mar;4(1):25-36. doi: 10.1016/j.jceh.2013.10.005. Epub 2013 Nov 23. J Clin Exp Hepatol. 2014. PMID: 25755532 Free PMC article. Review.
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are caused by defect in bile secretion and present with intrahepatic cholestasis, usually in infancy and childhood. ...The defect is in ATP8B1 gene encoding the FIC1 protein, ABC …
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are caused by defect in bile secretion and pr …
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH. Chen HL, et al. J Biomed Sci. 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. J Biomed Sci. 2018. PMID: 30367658 Free PMC article. Review.
Progressive familial intrahepatic cholestasis (PFIC) is the prototype of genetic liver diseases manifesting jaundice in early childhood, progressive liver fibrosis/cirrhosis, and failure to thrive. The first three types of PFICs identified (PFIC1, PFIC2, and PFIC3) represe …
Progressive familial intrahepatic cholestasis (PFIC) is the prototype of genetic liver diseases manifesting jaundice in early childho …
Lipoprotein-X fifty years after its original discovery.
Fellin R, Manzato E. Fellin R, et al. Nutr Metab Cardiovasc Dis. 2019 Jan;29(1):4-8. doi: 10.1016/j.numecd.2018.09.006. Epub 2018 Sep 26. Nutr Metab Cardiovasc Dis. 2019. PMID: 30503707 Review.
During cholestasis these mechanisms are altered and there is an accumulation of bile acids and cholesterol in plasma. The hypercholesterolemia observed in cholestasis is due to the presence of an anomalous lipoprotein called lipoprotein-X (Lp-X). ...The activity of …
During cholestasis these mechanisms are altered and there is an accumulation of bile acids and cholesterol in plasma. The hypercholes …
Systematic review of progressive familial intrahepatic cholestasis.
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. Baker A, et al. Clin Res Hepatol Gastroenterol. 2019 Feb;43(1):20-36. doi: 10.1016/j.clinre.2018.07.010. Epub 2018 Sep 17. Clin Res Hepatol Gastroenterol. 2019. PMID: 30236549 Free article.
BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare genetic disorders associated with bile acid secretion or transport defects. ...Incidence of intrahepatic cholestasis, including but not limited to PFIC, was 1/ …
BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare genetic disorders associat …
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
Sticova E, Jirsa M, Pawłowska J. Sticova E, et al. Can J Gastroenterol Hepatol. 2018 Jul 26;2018:2313675. doi: 10.1155/2018/2313675. eCollection 2018. Can J Gastroenterol Hepatol. 2018. PMID: 30148122 Free PMC article. Review.
Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of ATP8B1, ABCB11, ABCB4, TJP2, and NR1H4 have been described. In addition to familial intrahepatic cholestasis, partial defects in ATP8B1, ABCB11, and A
Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of ATP8B1, ABCB11, ABCB4
Familial intrahepatic cholestasis: New and wide perspectives.
Vitale G, Gitto S, Vukotic R, Raimondi F, Andreone P. Vitale G, et al. Dig Liver Dis. 2019 Jul;51(7):922-933. doi: 10.1016/j.dld.2019.04.013. Epub 2019 May 16. Dig Liver Dis. 2019. PMID: 31105019 Review.
PFIC3 is due to mutations of ABCB4 gene responsible for the synthesis of class III multidrug resistance P-glycoprotein flippase. ...Benign Intrahepatic Cholestasis, Intrahepatic Cholestasis of Pregnancy and Low-phospholipid-associated cholelithiasis involve t …
PFIC3 is due to mutations of ABCB4 gene responsible for the synthesis of class III multidrug resistance P-glycoprotein flippase. ...B …
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