Condition: Cholestasis, Progressive Familial Intrahepatic, 2


rs369860506 in ABCB11 gene and Cholestasis, Progressive Familial Intrahepatic, 2 PMID 9806540 1998 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

PMID 24969679 2014 Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

PMID 10579978 1999 Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

PMID 11815775 2002 FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

PMID 17855769 2007 Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.

PMID 19101985 2009 Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.

PMID 14672610 2004 These data suggest that PFIC-2 patients with the D482G mutation express a functional, but highly unstable, temperature-sensitive bile salt export pump.

PMID 18395098 2008 Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

PMID 26678486 2015 Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

PMID 15791618 2005 Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.

PMID 25847299 2015 Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.

PMID 20583290 2010 Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease).

PMID 24231640 2015 Anti-CD20 Monoclonal Antibody Therapy in Functional Bile Salt Export Pump Deficiency After Liver Transplantation.

PMID 16871584 2006 Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.