Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ABCG8: 691C>A; Pro231Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: P231T

PubMed Link: 33807969

Variant Present in the following documents:

• Main text
• ijms-22-02641.pdf

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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: P231T

PubMed Link: 32978801

Variant Present in the following documents:

• Main text
• FEB2-594-4035.pdf

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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: Pro231Thr

PubMed Link: 31795497

Variant Present in the following documents:

• Main text

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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: P231T

PubMed Link: 31654053

Variant Present in the following documents:

• Main text
• BST-47-1259.pdf

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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: P231T

PubMed Link: 30033951

Variant Present in the following documents:

• jat-25-783.pdf

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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: P231T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: Pro231Thr

PubMed Link: 11452359

Variant Present in the following documents:

• Main text

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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: Pro231Thr

PubMed Link: 11264985

Variant Present in the following documents:

• Main text

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