These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
167 related articles for article (PubMed ID: 27530795)
1. [Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I]. Cheng Y; Guo L; Song YZ Zhongguo Dang Dai Er Ke Za Zhi; 2016 Aug; 18(8):751-6. PubMed ID: 27530795 [TBL] [Abstract][Full Text] [Related]
2. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Davit-Spraul A; Fabre M; Branchereau S; Baussan C; Gonzales E; Stieger B; Bernard O; Jacquemin E Hepatology; 2010 May; 51(5):1645-55. PubMed ID: 20232290 [TBL] [Abstract][Full Text] [Related]
3. [Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene]. Cheng Y; Guo L; Deng M; Song YZ Zhongguo Dang Dai Er Ke Za Zhi; 2017 Jul; 19(7):734-740. PubMed ID: 28697823 [TBL] [Abstract][Full Text] [Related]
4. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. Deng BC; Lv S; Cui W; Zhao R; Lu X; Wu J; Liu P World J Gastroenterol; 2012 Nov; 18(44):6504-9. PubMed ID: 23197899 [TBL] [Abstract][Full Text] [Related]
5. Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing. Yang Y; Zhang J; Li LT; Qiu YL; Gong JY; Zhang MH; Li CH; Wang JS J Mol Diagn; 2021 Nov; 23(11):1491-1499. PubMed ID: 34543749 [TBL] [Abstract][Full Text] [Related]
7. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. Mínguez Rodríguez B; Molera Busoms C; Martorell Sampol L; García Romero R; Colomé Rivero G; Martín de Carpi J Gastroenterol Hepatol; 2022 Oct; 45(8):585-592. PubMed ID: 34942279 [TBL] [Abstract][Full Text] [Related]
8. Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1. Copeland E; Renault N; Renault M; Dyack S; Bulman DE; Bedard K; Otley A; Magee F; Acott P; Greer WL J Gastroenterol Hepatol; 2013 Mar; 28(3):560-4. PubMed ID: 23033845 [TBL] [Abstract][Full Text] [Related]
9. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Folmer DE; van der Mark VA; Ho-Mok KS; Oude Elferink RP; Paulusma CC Hepatology; 2009 Nov; 50(5):1597-605. PubMed ID: 19731236 [TBL] [Abstract][Full Text] [Related]
10. The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells. van der Mark VA; de Waart DR; Ho-Mok KS; Tabbers MM; Voogt HW; Oude Elferink RP; Knisely AS; Paulusma CC Biochim Biophys Acta; 2014 Dec; 1842(12 Pt A):2378-86. PubMed ID: 25239307 [TBL] [Abstract][Full Text] [Related]
11. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Müllenbach R; Bennett A; Tetlow N; Patel N; Hamilton G; Cheng F; Chambers J; Howard R; Taylor-Robinson SD; Williamson C Gut; 2005 Jun; 54(6):829-34. PubMed ID: 15888793 [TBL] [Abstract][Full Text] [Related]
15. [Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome]. Huang DG; Liu JJ; Guo L; Song YZ Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1077-1082. PubMed ID: 29046204 [TBL] [Abstract][Full Text] [Related]
16. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. Lykavieris P; van Mil S; Cresteil D; Fabre M; Hadchouel M; Klomp L; Bernard O; Jacquemin E J Hepatol; 2003 Sep; 39(3):447-52. PubMed ID: 12927934 [TBL] [Abstract][Full Text] [Related]
19. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. Liu LY; Wang XH; Wang ZL; Zhu QR; Wang JS J Pediatr Gastroenterol Nutr; 2010 Feb; 50(2):179-83. PubMed ID: 20038848 [TBL] [Abstract][Full Text] [Related]
20. 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 Best Pract Res Clin Gastroenterol; 2010 Oct; 24(5):541-53. PubMed ID: 20955958 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]