Publications:

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: ABCG8: R184H; rs766212636

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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: R184H

PubMed Link: 32978801

Variant Present in the following documents:

• Main text
• FEB2-594-4035.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ABCG8: R184H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ABCG8: 551G>A; R184H

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: ABCG8: R184H

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut

Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F

Publication Date: 2020-07

Variant appearance in text: ABCG8: Arg184His

PubMed Link: 31744909

Variant Present in the following documents:

• gutjnl-2019-319438supp006.xlsx, sheet 2
• gutjnl-2019-319438supp006.xlsx, sheet 1

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: R184H

PubMed Link: 31654053

Variant Present in the following documents:

• Main text
• BST-47-1259.pdf

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: ABCG8: R184H

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: ABCG8: R184H

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1

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: R184H

PubMed Link: 30033951

Variant Present in the following documents:

• jat-25-783.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ABCG8: 551G>A; R184H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: ABCG8: R184H

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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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: R184H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: ABCG8: R184H

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: ABCG8: R184H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics

Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB

Publication Date: 2001-08

Variant appearance in text: ABCG8: Arg184His

PubMed Link: 11452359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic basis of sitosterolemia.

Current Opinion In Lipidology

Lee, M H MH; Lu, K K; Patel, S B SB

Publication Date: 2001-04

Variant appearance in text: ABCG8: Arg184His

PubMed Link: 11264985

Variant Present in the following documents:

• Main text

View BVdb publication page

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