Associated Papers
Case Report: Sustained biochemical remission following early initiation of odevixibat in an infant with monoallelic ABCB11 mutation and histologically confirmed PFIC2.
Kehler T et al.
Frontiers in Pediatrics, 2025
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
Tumor immune microenvironment of self-identified African American and non-African American triple negative breast cancer.
Marczyk M et al.
Npj Breast Cancer, 2022
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE et al.
Hepatology (baltimore, Md.), 2021
Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis.
Bekdas M et al.
Journal of Pediatric Genetics, 2020
Severe and protracted cholestasis in 44 young men taking bodybuilding supplements: assessment of genetic, clinical and chemical risk factors.
Stolz A et al.
Alimentary Pharmacology & Therapeutics, 2019
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 2018
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane.
Takatsu H et al.
The Journal of Biological Chemistry, 2014
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
van der Woerd WL et al.
Plos One, 2013
Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.
McKay KE et al.
F1000research, 2013
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
Folmer DE et al.
Hepatology (baltimore, Md.), 2009
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Müllenbach R et al.
Gut, 2005
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004