BENJAMIN SHNEIDER to Mutation
This is a "connection" page, showing publications BENJAMIN SHNEIDER has written about Mutation.
Connection Strength
0.669
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Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease). Liver Transpl. 2010 Jul; 16(7):856-63.
Score: 0.134
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Update on progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 2008 Mar; 46(3):241-52.
Score: 0.114
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A new era in bile acid transport pathophysiology. J Pediatr Gastroenterol Nutr. 1998 Feb; 26(2):236-7.
Score: 0.057
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
Score: 0.050
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Byler disease: early natural history. J Pediatr Gastroenterol Nutr. 2015 Apr; 60(4):460-6.
Score: 0.047
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Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010 Jul; 53(1):170-8.
Score: 0.033
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ATPase Class I Type 8B Member 1 and protein kinase C zeta induce the expression of the canalicular bile salt export pump in human hepatocytes. Pediatr Res. 2010 Feb; 67(2):183-7.
Score: 0.033
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Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome. Clin J Am Soc Nephrol. 2009 Jan; 4(1):201-6.
Score: 0.030
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Genetic modifiers of cholestatic liver disease: an evolving field. J Pediatr Gastroenterol Nutr. 2006 Jan; 42(1):7-8.
Score: 0.025
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Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology. 2004 Mar; 126(3):756-64.
Score: 0.022
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Disorders of bile formation and biliary transport. Gastroenterol Clin North Am. 2003 Sep; 32(3):839-55, vi.
Score: 0.021
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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May; 34(1):91-6.
Score: 0.020
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A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1. Mol Genet Metab. 2002 Feb; 75(2):134-42.
Score: 0.019
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The role of AP-1 in the transcriptional regulation of the rat apical sodium-dependent bile acid transporter. J Biol Chem. 2001 Oct 19; 276(42):38703-14.
Score: 0.018
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Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. J Pediatr Gastroenterol Nutr. 2021 08 01; 73(2):169-177.
Score: 0.018
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Genetic cholestasis syndromes. J Pediatr Gastroenterol Nutr. 1999 Feb; 28(2):124-31.
Score: 0.015
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Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008 Apr; 134(4):1203-14.
Score: 0.007
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Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation. Am J Transplant. 2006 Aug; 6(8):1948-52.
Score: 0.006