Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus (Q39296292)

10 September 2017

title

Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus (English)

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Anke Tönjes

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Clemens Schafmayer

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Clemens Schafmayer

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Witigo von Schönfels

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Witigo von Schönfels

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Mario Brosch

Mario Brosch

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Michael Nothnagel

Michael Nothnagel

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Michael Krawczak

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Michael Krawczak

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Michael Stumvoll

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Julia Mayerle

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Matthias Platzer

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Stefan Schreiber

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Andre Franke

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Henning Wittenburg

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Wolfgang Kratzer

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Henry Völzke

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Frank Lammert

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Ramin Schirin-Sokhan

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Tobias Balschun

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Oliver von Kampen

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Bodo Schniewind

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Wiebke Erhart

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Marcus Seeger

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Jürgen Tepel

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Stephan Buch

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Lorena Azocar

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Hector Molina

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Jan Egberts

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Bernhard O Boehm

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Katharina Tiemann

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Zhao-Yan Jiang

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Tian-Quan Han

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Balraj Mittal

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Anshika Srivastava

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Mogens Fenger

25

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Holger Kalthoff

31

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Klaus Puschel

34

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Thomas Becker

35

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Juan Francisco Miquel

40

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10 September 2017

language of work or name

English

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publication date

25 January 2013

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volume

57

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issue

6

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page(s)

2407-2417

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Genetic epidemiology of cholesterol cholelithiasis among Chilean Hispanics, Amerindians, and Maoris.

10 September 2017

cites work

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Cholesterol gallstone disease.

21 January 2018

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Gallstone prevalence in Germany: the Ulm Gallbladder Stone Study.

21 January 2018

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21 January 2018

Asymptomatic gallstones

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The burden of selected digestive diseases in the United States.

21 January 2018

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Familial incidence of gallstones

21 January 2018

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Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs

21 January 2018

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A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

21 January 2018

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Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol

21 January 2018

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Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype

21 January 2018

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Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease

21 January 2018

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The genetic background of gallstone formation: an update

21 January 2018

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FXR and ABCG5/ABCG8 as determinants of cholesterol gallstone formation from quantitative trait locus mapping in mice

21 January 2018

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Pathogenesis of cholesterol and pigment gallstones: an update

21 January 2018

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Genetic predisposition to gallbladder stones

21 January 2018

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Independent risk factors for gallstone formation in a region with high cholelithiasis prevalence

21 January 2018

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SNP-based analysis of genetic substructure in the German population.

21 January 2018

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Known risk factors do not explain disparities in gallstone prevalence between Denmark and northeast Germany

21 January 2018

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ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males.

21 January 2018

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Haploview: analysis and visualization of LD and haplotype maps

21 January 2018

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A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

21 January 2018

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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

21 January 2018

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PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

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Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface

21 January 2018

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Changes in gallbladder bile composition and crystal detection time in morbidly obese subjects after bariatric surgery

21 January 2018

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Cholesterol saturation rather than phospholipid/bile salt ratio or protein content affects crystallization sequences in human gallbladder bile

21 January 2018

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The physical chemistry of cholesterol solubility in bile. Relationship to gallstone formation and dissolution in man

21 January 2018

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The physicochemical basis of cholesterol gallstone formation in man.

21 January 2018

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Cholesterol saturation, not proteins or cholecystitis, is critical for crystal formation in human gallbladder bile.

21 January 2018

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Pigment vs cholesterol cholelithiasis: comparison of stone and bile composition.

21 January 2018

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Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany

21 January 2018

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Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

21 January 2018

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Hepatic ABCG5 and ABCG8 overexpression increases hepatobiliary sterol transport but does not alter aortic atherosclerosis in transgenic mice

21 January 2018

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Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity

21 January 2018

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Prevalence of gallstones in sonographic surveys worldwide

21 January 2018

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7 January 2021

Sterol transporter adenosine triphosphate-binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population

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7 January 2021

Locking of 3' ends of single-stranded DNA templates for improved Pyrosequencing performance

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7 January 2021

The sterol transporting heterodimer ABCG5/ABCG8 requires bile salts to mediate cholesterol efflux

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7 January 2021

Medical and biochemical application of infrared absorption spectra. I. Studies on gall stone by infrared spectra and x-ray crystallography

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7 January 2021

Identifying functional promoter SNPs using allelic imbalance

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7 January 2021

Identifiers

DOI

10.1002/HEP.26009

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10 September 2017

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