Publications:

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Differential Effects of ABCG5/G8 Gene Region Variants on Lipid Profile, Blood Pressure Status, and Gallstone Disease History in Taiwan.

Genes

Teng, Ming-Sheng MS; Yeh, Kuan-Hung KH; Hsu, Lung-An LA; Chou, Hsin-Hua HH; Er, Leay-Kiaw LK; Wu, Semon S; Ko, Yu-Lin YL

Publication Date: 2023-03-20

Variant appearance in text: ABCG8: T400K

PubMed Link: 36981027

Variant Present in the following documents:

• Main text
• genes-14-00754.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ABCG8: T400K

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs4148217

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

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Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications

Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK

Publication Date: 2022-11

Variant appearance in text: rs4148217

PubMed Link: 36098472

Variant Present in the following documents:

• HEP4-6-3120-s001.xlsx, sheet 7
• HEP4-6-3120-s001.xlsx, sheet 6

View BVdb publication page

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Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review.

Frontiers In Nutrition

Pérez-Beltrán, Yolanda E YE; Rivera-Iñiguez, Ingrid I; Gonzalez-Becerra, Karina K; Pérez-Naitoh, Naomi N; Tovar, Juscelino J; Sáyago-Ayerdi, Sonia G SG; Mendivil, Edgar J EJ

Publication Date: 2022

Variant appearance in text: rs4148217

PubMed Link: 35387194

Variant Present in the following documents:

• Main text
• fnut-09-830283.pdf

View BVdb publication page

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Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.

Nature Communications

Scholz, Markus M; Horn, Katrin K; Pott, Janne J; Gross, Arnd A; Kleber, Marcus E ME; Delgado, Graciela E GE; Mishra, Pashupati Prasad PP; Kirsten, Holger H; Gieger, Christian C; Müller-Nurasyid, Martina M; Tönjes, Anke A; Kovacs, Peter P; Lehtimäki, Terho T; Raitakari, Olli O; Kähönen, Mika M; Gylling, Helena H; Baber, Ronny R; Isermann, Berend B; Stumvoll, Michael M; Loeffler, Markus M; März, Winfried W; Meitinger, Thomas T; Peters, Annette A; Thiery, Joachim J; Teupser, Daniel D; Ceglarek, Uta U

Publication Date: 2022-01-10

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 35013273

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27706.pdf

View BVdb publication page

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Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.

Nature Communications

Scholz, Markus M; Horn, Katrin K; Pott, Janne J; Gross, Arnd A; Kleber, Marcus E ME; Delgado, Graciela E GE; Mishra, Pashupati Prasad PP; Kirsten, Holger H; Gieger, Christian C; Müller-Nurasyid, Martina M; Tönjes, Anke A; Kovacs, Peter P; Lehtimäki, Terho T; Raitakari, Olli O; Kähönen, Mika M; Gylling, Helena H; Baber, Ronny R; Isermann, Berend B; Stumvoll, Michael M; Loeffler, Markus M; März, Winfried W; Meitinger, Thomas T; Peters, Annette A; Thiery, Joachim J; Teupser, Daniel D; Ceglarek, Uta U

Publication Date: 2022-01-10

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 35013273

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27706.pdf

View BVdb publication page

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Risk of gallstones based on ABCG8 rs11887534 single nucleotide polymorphism among Taiwanese men and women.

Bmc Gastroenterology

Liang, Keng-Wei KW; Huang, Hsin-Hui HH; Wang, Lee L; Lu, Wen-Yu WY; Chou, Ying-Hsiang YH; Tantoh, Disline Manli DM; Nfor, Oswald Ndi ON; Chiu, Neng-Yu NY; Tyan, Yeu-Sheng YS; Liaw, Yung-Po YP

Publication Date: 2021-12-14

Variant appearance in text: ABCG8: T400K

PubMed Link: 34906072

Variant Present in the following documents:

• 12876_2021_Article_2060.pdf

View BVdb publication page

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Risk of gallstones based on ABCG8 rs11887534 single nucleotide polymorphism among Taiwanese men and women.

Bmc Gastroenterology

Liang, Keng-Wei KW; Huang, Hsin-Hui HH; Wang, Lee L; Lu, Wen-Yu WY; Chou, Ying-Hsiang YH; Tantoh, Disline Manli DM; Nfor, Oswald Ndi ON; Chiu, Neng-Yu NY; Tyan, Yeu-Sheng YS; Liaw, Yung-Po YP

Publication Date: 2021-12-14

Variant appearance in text: ABCG8: T400K

PubMed Link: 34906072

Variant Present in the following documents:

• 12876_2021_Article_2060.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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A genetic sum score of effect alleles associated with serum lipid concentrations interacts with educational attainment.

Scientific Reports

Emmel, Carina C; Frank, Mirjam M; Dragano, Nico N; Nöthen, Markus M MM; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Schmidt, Börge B

Publication Date: 2021-08-16

Variant appearance in text: rs4148217

PubMed Link: 34400708

Variant Present in the following documents:

• Main text

View BVdb publication page

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New insights into the role of Lith genes in the formation of cholesterol-supersaturated bile.

Liver Research

Wang, Helen H HH; Li, Tiangang T; Portincasa, Piero P; Ford, David A DA; Neuschwander-Tetri, Brent A BA; Tso, Patrick P; Wang, David Q-H DQ

Publication Date: 2017-06

Variant appearance in text: ABCG8: T400K

PubMed Link: 34367715

Variant Present in the following documents:

• nihms-1697077.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ABCG8: 1199C>A; T400K; rs4148217

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.

International Journal Of Molecular Sciences

Williams, Kori K; Segard, Allison A; Graf, Gregory A GA

Publication Date: 2021-03-05

Variant appearance in text: ABCG8: T400K

PubMed Link: 33807969

Variant Present in the following documents:

• Main text
• ijms-22-02641.pdf

View BVdb publication page

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Revealing the Role of High-Density Lipoprotein in Colorectal Cancer.

International Journal Of Molecular Sciences

Zeljkovic, Aleksandra A; Vekic, Jelena J; Mihajlovic, Marija M; Gojkovic, Tamara T; Vladimirov, Sandra S; Zeljkovic, Dejan D; Spasojevic-Kalimanovska, Vesna V; Trifunovic, Bratislav B

Publication Date: 2021-03-25

Variant appearance in text: ABCG8: Thr400Lys; rs4148217

PubMed Link: 33805921

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased absorption of phytosterols is the simplest and most plausible explanation for coronary artery disease risk not accounted for by non-HDL cholesterol in high cholesterol absorbers.

European Heart Journal

Helgadottir, Anna A; Thorleifsson, Gudmar G; Stefansson, Kari K

Publication Date: 2021-01-20

Variant appearance in text: rs4148217

PubMed Link: 33167008

Variant Present in the following documents:

• Main text
• ehaa902.pdf

View BVdb publication page

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Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters

Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY

Publication Date: 2020-12

Variant appearance in text: ABCG8: T400K

PubMed Link: 32978801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.

Advances In Experimental Medicine And Biology

Wang, Helen H HH; Liu, Min M; Portincasa, Piero P; Wang, David Q-H DQ

Publication Date: 2020

Variant appearance in text: ABCG8: Thr400Lys

PubMed Link: 32705597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

European Heart Journal

Helgadottir, Anna A; Thorleifsson, Gudmar G; Alexandersson, Kristjan F KF; Tragante, Vinicius V; Thorsteinsdottir, Margret M; Eiriksson, Finnur F FF; Gretarsdottir, Solveig S; Björnsson, Eythór E; Magnusson, Olafur O; Sveinbjornsson, Gardar G; Jonsdottir, Ingileif I; Steinthorsdottir, Valgerdur V; Ferkingstad, Egil E; Jensson, Brynjar Ö BÖ; Stefansson, Hreinn H; Olafsson, Isleifur I; Christensen, Alex H AH; Torp-Pedersen, Christian C; Køber, Lars L; Pedersen, Ole B OB; Erikstrup, Christian C; Sørensen, Erik E; Brunak, Søren S; Banasik, Karina K; Hansen, Thomas F TF; Nyegaard, Mette M; Eyjolfssson, Gudmundur I GI; Sigurdardottir, Olof O; Thorarinsson, Bjorn L BL; Matthiasson, Stefan E SE; Steingrimsdottir, Thora T; Bjornsson, Einar S ES; Danielsen, Ragnar R; Asselbergs, Folkert W FW; Arnar, David O DO; Ullum, Henrik H; Bundgaard, Henning H; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Thorgeirsson, Gudmundur G; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K

Publication Date: 2020-07-21

Variant appearance in text: ABCG8: Thr400Lys; rs4148217

PubMed Link: 32702746

Variant Present in the following documents:

• Main text
• ehaa531.pdf

View BVdb publication page

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Association of Common Single Nucleotide Polymorphisms of Candidate Genes with Gallstone Disease: A Meta-Analysis.

Indian Journal Of Clinical Biochemistry : Ijcb

Chauhan, Tripty T; Mittal, R D RD; Mittal, B B

Publication Date: 2020-07

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 32647408

Variant Present in the following documents:

• Main text

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCG8: 1199C>A; Thr400Lys

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules

Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E

Publication Date: 2019-11-29

Variant appearance in text: ABCG8: Thr400Lys; rs4148217

PubMed Link: 31795497

Variant Present in the following documents:

• Main text

View BVdb publication page

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Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.

Orphanet Journal Of Rare Diseases

Kałużna, Małgorzata M; Trzeciak, Isabella I; Ziemnicka, Katarzyna K; Machaczka, Maciej M; Ruchała, Marek M

Publication Date: 2019-12-02

Variant appearance in text: ABCG8: T400K

PubMed Link: 31791361

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Biochemical Society Transactions

Zein, Aiman A AA; Kaur, Rupinder R; Hussein, Toka O K TOK; Graf, Gregory A GA; Lee, Jyh-Yeuan JY

Publication Date: 2019-10-31

Variant appearance in text: ABCG8: T400K

PubMed Link: 31654053

Variant Present in the following documents:

• Main text
• BST-47-1259.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ABCG8: 1199C>A; Thr400Lys; rs4148217

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Molecular Nutrition & Food Research

Walther, Barbara B; Lett, Aaron M AM; Bordoni, Alessandra A; Tomás-Cobos, Lidia L; Nieto, Juan Antonio JA; Dupont, Didier D; Danesi, Francesca F; Shahar, Danit R DR; Echaniz, Ana A; Re, Roberta R; Fernandez, Aida Sainz AS; Deglaire, Amélie A; Gille, Doreen D; Schmid, Alexandra A; Vergères, Guy G

Publication Date: 2019-11

Variant appearance in text: ABCG8: T400K

PubMed Link: 31483113

Variant Present in the following documents:

• Main text
• MNFR-63-na.pdf

View BVdb publication page

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Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Liu, Xiangyin X; Xi, Qi Q; Li, Leilei L; Wang, Qiyuan Q; Jiang, Yuting Y; Zhang, Hongguo H; Liu, Ruizhi R; Wang, Ruixue R

Publication Date: 2019-08-04

Variant appearance in text: ABCG8: 1199C>A; rs4148217

PubMed Link: 31377750

Variant Present in the following documents:

• Main text
• medscimonit-25-5801.pdf

View BVdb publication page

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Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics

Gu, Harvest F HF

Publication Date: 2019

Variant appearance in text: rs4148217

PubMed Link: 31231424

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gallstone Disease and the Risk of Cardiovascular Disease.

Scientific Reports

Fairfield, Cameron J CJ; Wigmore, Stephen J SJ; Harrison, Ewen M EM

Publication Date: 2019-04-09

Variant appearance in text: ABCG8: T400k

PubMed Link: 30967586

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42327.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ABCG8: 1199C>A; Thr400Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ABCG8: 1199C>A; Thr400Lys; rs4148217

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Distribution of the ATP-binding cassette transporter ABCG8 IVS1-2A>G genotype and clinical characteristics of gallbladder patients in Northeastern Mexico: A pilot study.

Biomedical Reports

Frigerio, Pamela P; Cepeda-Nieto, Ana Cecilia AC; Marcos-Morales, Selim S; Peña-Velázquez, Abel A; Dávila-Flores, Sergio S; Salinas-Santander, Mauricio M

Publication Date: 2018-09

Variant appearance in text: ABCG8: T400K

PubMed Link: 30271604

Variant Present in the following documents:

• Main text

View BVdb publication page

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Progress and perspectives in plant sterol and plant stanol research.

Nutrition Reviews

Jones, Peter J H PJH; Shamloo, Maryam M; MacKay, Dylan S DS; Rideout, Todd C TC; Myrie, Semone B SB; Plat, Jogchum J; Roullet, Jean-Baptiste JB; Baer, David J DJ; Calkins, Kara L KL; Davis, Harry R HR; Barton Duell, P P; Ginsberg, Henry H; Gylling, Helena H; Jenkins, David D; Lütjohann, Dieter D; Moghadasian, Mohammad M; Moreau, Robert A RA; Mymin, David D; Ostlund, Richard E RE; Ras, Rouyanne T RT; Ochoa Reparaz, Javier J; Trautwein, Elke A EA; Turley, Stephen S; Vanmierlo, Tim T; Weingärtner, Oliver O

Publication Date: 2018-10-01

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 30101294

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Nohara, Atsushi A; Inazu, Akihiro A; Sakuma, Nagahiko N; Mabuchi, Hiroshi H; Kawashiri, Masa-Aki MA

Publication Date: 2018-09-01

Variant appearance in text: ABCG8: T400K

PubMed Link: 30033951

Variant Present in the following documents:

• jat-25-783.pdf

View BVdb publication page

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ATP binding cassette and cholecystokinin A receptor genetic variations in gallstone susceptibility.

Gastroenterology And Hepatology From Bed To Bench

Milanizadeh, Saman S; Mohebbi, Seyed Reza SR; Khanyaghma, Mahsa M; Mohammad Alizadeh, Amir Houshang AH

Publication Date: 2017

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 29511480

Variant Present in the following documents:

• Main text
• GHFBB-10-S108.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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The Lipid-lowering Effects and Associated Mechanisms of Dietary Phytosterol Supplementation.

Current Pharmaceutical Design

Dumolt, Jerad H JH; Rideout, Todd C TC

Publication Date: 2017

Variant appearance in text: rs4148217

PubMed Link: 28745211

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs4148217

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease

Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V

Publication Date: 2017-06-02

Variant appearance in text: rs4148217

PubMed Link: 28577571

Variant Present in the following documents:

• 12944_2017_Article_488.pdf

View BVdb publication page

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Host-related factors explaining interindividual variability of carotenoid bioavailability and tissue concentrations in humans.

Molecular Nutrition & Food Research

Bohn, Torsten T; Desmarchelier, Charles C; Dragsted, Lars O LO; Nielsen, Charlotte S CS; Stahl, Wilhelm W; Rühl, Ralph R; Keijer, Jaap J; Borel, Patrick P

Publication Date: 2017-06

Variant appearance in text: rs4148217

PubMed Link: 28101967

Variant Present in the following documents:

• Main text
• MNFR-61-na.pdf

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Polymorphisms in UGT1A1 Gene Predispose South Indians to Pigmentous Gallstones.

Journal Of Clinical And Experimental Hepatology

Ravikanth, Vishnubhotla Venkata VV; Rao, Guduru Venkat GV; Govardhan, Bale B; Sasikala, Mitnala M; Subramanyam, Chivukula C; Vivekananda Murthy, H V HV; Siva Prasad, Siddapuram S; Deepika, G G; Pradeep, Rebala R; Nageshwar Reddy, Duvvuru D

Publication Date: 2016-09

Variant appearance in text: ABCG8: T400K

PubMed Link: 27746618

Variant Present in the following documents:

• Main text

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: ABCG8: T400K

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4148217

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCG8: T400K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Association of three common single nucleotide polymorphisms of ATP binding cassette G8 gene with gallstone disease: a meta-analysis.

Plos One

Jiang, Zhao-Yan ZY; Cai, Qu Q; Chen, Er-Zhen EZ

Publication Date: 2014

Variant appearance in text: ABCG8: T400K

PubMed Link: 24498041

Variant Present in the following documents:

• Main text
• pone.0087200.pdf

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Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics

Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL

Publication Date: 2013-03

Variant appearance in text: rs4148217

PubMed Link: 23555291

Variant Present in the following documents:

• pgen.1003379.s009.pdf

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ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels.

Plos One

Li, Qing Q; Yin, Rui-Xing RX; Wei, Xian-Liang XL; Yan, Ting-Ting TT; Aung, Lynn Htet Htet LH; Wu, Dong-Feng DF; Wu, Jin-Zhen JZ; Lin, Wei-Xiong WX; Liu, Cheng-Wu CW; Pan, Shang-Ling SL

Publication Date: 2012

Variant appearance in text: ABCG8: T400K

PubMed Link: 22655090

Variant Present in the following documents:

• Main text

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Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities.

Lipids In Health And Disease

Li, Qing Q; Wei, Xian-Liang XL; Yin, Rui-Xing RX

Publication Date: 2012-05-01

Variant appearance in text: ABCG8: T400K; rs4148217

PubMed Link: 22548731

Variant Present in the following documents:

• Main text
• 1476-511X-11-46.pdf

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Concept of the pathogenesis and treatment of cholelithiasis.

World Journal Of Hepatology

Reshetnyak, Vasiliy Ivanovich VI

Publication Date: 2012-02-27

Variant appearance in text: ABCG8: T400K

PubMed Link: 22400083

Variant Present in the following documents:

• Main text

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Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.

Drug Metabolism And Drug Interactions

Silverton, Latoya L; Dean, Michael M; Moitra, Karobi K

Publication Date: 2011

Variant appearance in text: ABCG8: T400K

PubMed Link: 22098604

Variant Present in the following documents:

• Main text

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Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research

Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B

Publication Date: 2011

Variant appearance in text: rs4148217

PubMed Link: 21708280

Variant Present in the following documents:

• Main text

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Phytosterols and phytosterolemia: gene-diet interactions.

Genes & Nutrition

Izar, Maria C MC; Tegani, Daniela M DM; Kasmas, Soraia H SH; Fonseca, Francisco A FA

Publication Date: 2011-02

Variant appearance in text: ABCG8: Thr400Lys

PubMed Link: 21437027

Variant Present in the following documents:

• Main text

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