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Year Number of Results
2000 3
2003 1
2005 1
2006 1
2010 3
2011 2
2012 3
2013 2
2014 2
2015 1
2018 3
2019 4
2020 4
2021 1
2022 1
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27 results
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Page 1
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. ...
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ...
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S, Haep N, Gad MA, Soto-Gutierrez A, Squires JE, Florentino RM. Amirneni S, et al. World J Gastroenterol. 2020 Dec 21;26(47):7470-7484. doi: 10.3748/wjg.v26.i47.7470. World J Gastroenterol. 2020. PMID: 33384548 Free PMC article. Review.
This condition could be caused by defects of the hepatocytes, which are responsible for the complex process of bile formation and secretion, and/or caused by defects in the secretory machinery of cholangiocytes. Several mutations and pathways that lead to cholestasis have …
This condition could be caused by defects of the hepatocytes, which are responsible for the complex process of bile formation and secretion, …
Drugs and hepatic transporters: A review.
Jetter A, Kullak-Ublick GA. Jetter A, et al. Pharmacol Res. 2020 Apr;154:104234. doi: 10.1016/j.phrs.2019.04.018. Epub 2019 Apr 17. Pharmacol Res. 2020. PMID: 31004787 Review.
Additionally, rare monogenetic diseases exist which can be explained by absence of function or dysfunction of specific hepatic transporters, such as progressive familial intrahepatic cholestasis type 2 by genetic modifications in BSEP tha …
Additionally, rare monogenetic diseases exist which can be explained by absence of function or dysfunction of specific hepatic transporters, …
Targeting FXR in Cholestasis.
Keitel V, Dröge C, Häussinger D. Keitel V, et al. Handb Exp Pharmacol. 2019;256:299-324. doi: 10.1007/164_2019_231. Handb Exp Pharmacol. 2019. PMID: 31201556 Review.
Combined deletion of FXR and SHP spontaneously triggers early-onset intrahepatic cholestasis in mice resembling human progressive familial intrahepatic cholestasis (PFIC). Reduced expression levels and activity of FXR have been reported i …
Combined deletion of FXR and SHP spontaneously triggers early-onset intrahepatic cholestasis in mice resembling human progr …
Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
Chen R, Yang FX, Tan YF, Deng M, Li H, Xu Y, Ouyang WX, Song YZ. Chen R, et al. Orphanet J Rare Dis. 2022 Dec 22;17(1):445. doi: 10.1186/s13023-022-02597-y. Orphanet J Rare Dis. 2022. PMID: 36550572 Free PMC article. Review.
BACKGROUND: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disease caused by pathogenic variants of the gene ABCB4. ...PFIC3 patients with biallelic null variants exhibited earlier onset ages [10.5 (2 …
BACKGROUND: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive diseas …
Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects.
Bosma PJ, Wits M, Oude-Elferink RP. Bosma PJ, et al. Int J Mol Sci. 2020 Dec 29;22(1):273. doi: 10.3390/ijms22010273. Int J Mol Sci. 2020. PMID: 33383947 Free PMC article. Review.
Progressive Familial Intrahepatic Cholestasis (PFIC) are inherited severe liver disorders presenting early in life, with high serum bile salt and bilirubin levels. Six types have been reported, two of these are caused by deficiency of an ABC transporte …
Progressive Familial Intrahepatic Cholestasis (PFIC) are inherited severe liver disorders presenting early in li …
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings.
Morotti RA, Suchy FJ, Magid MS. Morotti RA, et al. Semin Liver Dis. 2011 Feb;31(1):3-10. doi: 10.1055/s-0031-1272831. Epub 2011 Feb 22. Semin Liver Dis. 2011. PMID: 21344347 Review.
Progressive familial intrahepatic cholestatic diseases encompass a group of autosomal recessive hereditary diseases, which usually present in infancy or childhood, with cholestasis of hepatocellular origin. ...
Progressive familial intrahepatic cholestatic diseases encompass a group of autosomal recessive hereditary diseases, wh …
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 …
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. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper for …
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations i …
ABCB4 disease: Many faces of one gene deficiency.
Sticova E, Jirsa M. Sticova E, et al. Ann Hepatol. 2020 Mar-Apr;19(2):126-133. doi: 10.1016/j.aohep.2019.09.010. Epub 2019 Oct 31. Ann Hepatol. 2020. PMID: 31759867 Free article. Review.
ABCB4 mutations altering canalicular ABCB4 protein function and expression may have variable clinical presentation and predispose to several human liver diseases. Well-established phenotypes of ABCB4 deficit are: progressive familial intrahepatic cholestas …
ABCB4 mutations altering canalicular ABCB4 protein function and expression may have variable clinical presentation and predispose to several …
27 results