The genetics of complex cholestatic disorders
GM Hirschfield, RW Chapman, TH Karlsen, F Lammert… - Gastroenterology, 2013 - Elsevier
Cholestatic liver diseases are caused by a range of hepatobiliary insults and involve
complex interactions among environmental and genetic factors. Little is known about the …
complex interactions among environmental and genetic factors. Little is known about the …
ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion
AA Zein, R Kaur, TOK Hussein… - Biochemical society …, 2019 - portlandpress.com
The ABCG5/G8 heterodimer is the primary neutral sterol transporter in hepatobiliary and
transintestinal cholesterol excretion. Inactivating mutations on either the ABCG5 or ABCG8 …
transintestinal cholesterol excretion. Inactivating mutations on either the ABCG5 or ABCG8 …
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia
AC Alves, A Etxebarria, AK Soutar… - Human molecular …, 2014 - academic.oup.com
Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density
lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart …
lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart …
[HTML][HTML] Genetic variation and intestinal cholesterol absorption in humans: a systematic review and a gene network analysis
FBA Mokhtar, J Plat, RP Mensink - Progress in Lipid Research, 2022 - Elsevier
Intestinal cholesterol absorption varies widely between individuals, which may translate into
differences in responsiveness to cholesterol-lowering drugs or diets. Therefore …
differences in responsiveness to cholesterol-lowering drugs or diets. Therefore …
Gallbladder cancers: associated conditions, histological types, prognosis, and prevention
A Cariati, E Piromalli, F Cetta - European journal of …, 2014 - journals.lww.com
Materials and methods From 1986 to 2012, 75 patients were found to have gallbladder
cancer during the study of 2942 patients affected by biliary tract diseases; 34 of these …
cancer during the study of 2942 patients affected by biliary tract diseases; 34 of these …
[PDF][PDF] Gallstone disease and type 2 diabetes risk: a Mendelian randomization study
F Wang, J Wang, Y Li, J Yuan, P Yao, S Wei… - …, 2019 - Wiley Online Library
The presence of gallstone disease (GSD) was reported to be positively associated with
diabetes risk. Whether the association is causal remains unclear. We aim to examine the …
diabetes risk. Whether the association is causal remains unclear. We aim to examine the …
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry
BI Bustos, E Pérez-Palma, S Buch, L Azócar… - Scientific reports, 2019 - nature.com
Abstract Latin Americans and Chilean Amerindians have the highest prevalence of gallstone
disease (GSD) and gallbladder cancer (GBC) in the world. A handful of loci have been …
disease (GSD) and gallbladder cancer (GBC) in the world. A handful of loci have been …
Genetics of gallstone disease
SC Chuang, E Hsi, KT Lee - Advances in clinical chemistry, 2013 - Elsevier
Gallstone disease (GSD) is one of the most common biliary tract disorders worldwide. The
prevalence, however, varies from 5.9–21.9% in Western society to 3.1–10.7% in Asia. Most …
prevalence, however, varies from 5.9–21.9% in Western society to 3.1–10.7% in Asia. Most …
Cryo-EM structure of ABCG5/G8 in complex with modulating antibodies
The heterodimer of ATP-binding cassette transporter ABCG5 and ABCG8 mediates the
excretion of sterols from liver and intestine, playing a critical role in cholesterol homeostasis …
excretion of sterols from liver and intestine, playing a critical role in cholesterol homeostasis …
Role of the ABCG8 19H risk allele in cholesterol absorption and gallstone disease
O Renner, D Lütjohann, D Richter, A Strohmeyer… - BMC …, 2013 - Springer
Background Gallstone disease is associated with p. D19H of ABCG8 as well as alterations
of cholesterol and bile acid metabolism. However, molecular mechanisms have not been …
of cholesterol and bile acid metabolism. However, molecular mechanisms have not been …