Skip to main content

Research Repository

Advanced Search

All Outputs (18)

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease (2023)
Journal Article

Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is a complex trait with an estimated prevalence of 25% globally. We aimed to identify the genetic variant underlying a four-generation family with progressive NAFLD leading to cirrhosis, de... Read More about Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.

hiPSC hepatocyte model demonstrates the role of unfolded protein response and inflammatory networks in α1-antitrypsin deficiency (2018)
Journal Article

© 2018 The Authors Background & Aims: α1-Antitrypsin deficiency (A1ATD) is an autosomal recessive disorder caused by mutations in the SERPINA1 gene. Individuals with the Z variant (Gly342Lys) retain polymerised protein in the endoplasmic reticulum (E... Read More about hiPSC hepatocyte model demonstrates the role of unfolded protein response and inflammatory networks in α1-antitrypsin deficiency.

Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids (2017)
Journal Article

© 2017 Nature America, Inc., part of Springer Nature. All rights reserved. The treatment of common bile duct (CBD) disorders, such as biliary atresia or ischemic strictures, is restricted by the lack of biliary tissue from healthy donors suitable for... Read More about Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids.

Directed differentiation of human induced pluripotent stem cells into functional cholangiocyte-like cells (2017)
Journal Article

The difficulty in isolating and propagating functional primary cholangiocytes is a major limitation in the study of biliary disorders and the testing of novel therapeutic agents. To overcome this problem, we have developed a platform for the differen... Read More about Directed differentiation of human induced pluripotent stem cells into functional cholangiocyte-like cells.

Dynamics of 5-carboxylcytosine during hepatic differentiation: potential general role for active demethylation by DNA repair in lineage specification (2017)
Journal Article

Patterns of DNA methylation (5-methylcytosine, 5mC) are rearranged during differentiation contributing to the regulation of cell type-specific gene expression. TET proteins oxidise 5mC to 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC) and 5-c... Read More about Dynamics of 5-carboxylcytosine during hepatic differentiation: potential general role for active demethylation by DNA repair in lineage specification.

Optimized inducible shRNA and CRISPR/Cas9 platforms for in vitro studies of human development using hPSCs (2016)
Journal Article

© 2016. Inducible loss of gene function experiments are necessary to uncover mechanisms underlying development, physiology and disease. However, current methods are complex, lack robustness and do not work in multiple cell types. Here we address thes... Read More about Optimized inducible shRNA and CRISPR/Cas9 platforms for in vitro studies of human development using hPSCs.

Cholangiocytes derived from human induced pluripotent stem cells for disease modeling and drug validation (2015)
Journal Article

The study of biliary disease has been constrained by a lack of primary human cholangiocytes. Here we present an efficient, serum-free protocol for directed differentiation of human induced pluripotent stem cells into cholangiocyte-like cells (CLCs).... Read More about Cholangiocytes derived from human induced pluripotent stem cells for disease modeling and drug validation.