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Select item 99083981.

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5

Hayato Tada, Hirofumi Okada, Akihiro Nomura, Masayuki Takamura, Masa-aki Kawashiri

Intern Med. 2023 Jan 15; 62(2): 251–259. Published online 2022 Jun 14. doi: 10.2169/internalmedicine.0050-22

PMCID:: PMC9908398

Abstract Article PDF–267K

Select item 79830482.

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

Akihiro Nomura, Connor A. Emdin, Hong Hee Won, Gina M. Peloso, Pradeep Natarajan, Diego Ardissino, John Danesh, Heribert Schunkert, Adolfo Correa, Matthew J. Bown, Nilesh J. Samani, Jeanette Erdmann, Ruth McPherson, Hugh Watkins, Danish Saleheen, Roberto Elosua, Masa-aki Kawashiri, Hayato Tada, Namrata Gupta, Svati H. Shah, Daniel J. Rader, Stacey Gabriel, Amit V. Khera, Sekar Kathiresan

Circ Genom Precis Med. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Circ Genom Precis Med. 2020 Oct; 13(5): 417–423. Published online 2020 Aug 30. doi: 10.1161/CIRCGEN.119.002871

PMCID:: PMC7983048

Abstract Article PDF–400K

Select item 73992633.

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing

Hayato Tada, Masa-aki Kawashiri, Hirofumi Okada, Saori Endo, Yuka Toyoshima, Tetsuo Konno, Atsushi Nohara, Akihiro Inazu, Akira Takao, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi

J Atheroscler Thromb. 2016 Jul 1; 23(7): 884–890. doi: 10.5551/jat.34827

PMCID:: PMC7399263

Abstract Article PDF–1.1M

Select item 39075014.

Association of Three Common Single Nucleotide Polymorphisms of ATP Binding Cassette G8 Gene with Gallstone Disease: A Meta-Analysis

Zhao-Yan Jiang, Qu Cai, Er-Zhen Chen

PLoS One. 2014; 9(1): e87200. Published online 2014 Jan 30. doi: 10.1371/journal.pone.0087200

PMCID:: PMC3907501

Abstract Article PDF–950K

Select item 5089705.

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

S B Patel, G Salen, H Hidaka, P O Kwiterovich, A F Stalenhoef, T A Miettinen, S M Grundy, M H Lee, J S Rubenstein, M H Polymeropoulos, M J Brownstein

J Clin Invest. 1998 Sep 1; 102(5): 1041–1044. doi: 10.1172/JCI3963

PMCID:: PMC508970

Summary PDF–182K

Select item 108630916.

Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses

Jiarui Mi, Qingwei Jiang, Zhengwei Qi, Zhengye Liu, Xiaoyin Bai, Xia Zheng, Jiaguo Wu, Yanfei Fang, Aiming Yang, Haotian Chen

Hum Genomics. 2024; 18: 19. Published online 2024 Feb 12. doi: 10.1186/s40246-024-00583-y

PMCID:: PMC10863091

Abstract Article PDF–1.7M

Select item 86508517.

Recent advances in ABCG5 and ABCG8 variants

Vincent Fong, Shailendra B. Patel

Curr Opin Lipidol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Curr Opin Lipidol. 2021 Apr 1; 32(2): 117–122. doi: 10.1097/MOL.0000000000000734

PMCID:: PMC8650851

Abstract Article PDF–307K

Select item 81181358.

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

Helen H. Wang, Min Liu, Piero Portincasa, David Q.-H. Wang

Adv Exp Med Biol. Author manuscript; available in PMC 2021 May 13.

Published in final edited form as: Adv Exp Med Biol. 2020; 1276: 105–136. doi: 10.1007/978-981-15-6082-8_8

PMCID:: PMC8118135

Abstract Article PDF–1.5M

Select item 79616849.

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8

Kori Williams, Allison Segard, Gregory A. Graf

Int J Mol Sci. 2021 Mar; 22(5): 2641. Published online 2021 Mar 5. doi: 10.3390/ijms22052641

PMCID:: PMC7961684

Abstract Article PDF–842K

Select item 769958010.

Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter

Bala M. Xavier, Aiman A. Zein, Angelica Venes, Junmei Wang, Jyh-Yeuan Lee

Int J Mol Sci. 2020 Nov; 21(22): 8747. Published online 2020 Nov 19. doi: 10.3390/ijms21228747

PMCID:: PMC7699580

Abstract Article PDF–3.1M

Select item 694230911.

Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene

Hayato Tada, Hirofumi Okada, Akihiro Nomura, Masayuki Takamura, Masa-aki Kawashiri

Lipids Health Dis. 2020; 19: 3. Published online 2020 Jan 4. doi: 10.1186/s12944-019-1183-4

PMCID:: PMC6942309

Abstract Article PDF–738K

Select item 413390012.

Cooperative transcriptional activation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 genes by nuclear receptors including Liver-X-Receptor

Su Sun Back, Jinsu Kim, Daehyung Choi, Eui Sup Lee, Soo Young Choi, Kyuhyung Han

BMB Rep. 2013 Jun; 46(6): 322–327. doi: 10.5483/BMBRep.2013.46.6.246

PMCID:: PMC4133900

Abstract Article PDF–963K

Select item 409702813.

The ABCG5 ABCG8 sterol transporter and phytosterols: implications for cardiometabolic disease

Nadezhda S. Sabeva, Jingjing Liu, Gregory A. Graf

Curr Opin Endocrinol Diabetes Obes. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Curr Opin Endocrinol Diabetes Obes. 2009 Apr; 16(2): 172–177. doi: 10.1097/med.0b013e3283292312

PMCID:: PMC4097028

Abstract Article PDF–133K

Select item 336002914.

ATP-Binding Cassette Transporter G5 and G8 Polymorphisms and Several Environmental Factors with Serum Lipid Levels

Qing Li, Rui-Xing Yin, Xian-Liang Wei, Ting-Ting Yan, Lynn Htet Htet Aung, Dong-Feng Wu, Jin-Zhen Wu, Wei-Xiong Lin, Cheng-Wu Liu, Shang-Ling Pan

PLoS One. 2012; 7(5): e37972. Published online 2012 May 24. doi: 10.1371/journal.pone.0037972

PMCID:: PMC3360029

Abstract Article PDF–1.3M

Select item 293675615.

ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis

Lily Jakulj, Maud N. Vissers, Michael W. T. Tanck, Barbara A. Hutten, Frans Stellaard, John J. P. Kastelein, Geesje M. Dallinga-Thie

J Lipid Res. 2010 Oct; 51(10): 3016–3023. doi: 10.1194/jlr.M008128

PMCID:: PMC2936756

Abstract Article PDF–827K

Select item 290573416.

Genetic Variations at ABCG5/G8 Genes Modulate Plasma Lipids Concentrations in Patients with Familial Hypercholesterolemia

A Garcia-Rios, P Perez-Martinez, F Fuentes, P Mata, J Lopez-Miranda, R Alonso, F Rodriguez, A Garcia-Olid, J Ruano, JM Ordovas, F Perez-Jimenez

Atherosclerosis. Author manuscript; available in PMC 2011 Jun 1.

Published in final edited form as: Atherosclerosis. 2010 Jun; 210(2): 486–492. Published online 2010 Jan 22. doi: 10.1016/j.atherosclerosis.2010.01.010

PMCID:: PMC2905734

Abstract Article PDF–292K

Select item 263811017.

The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study

Mireia Junyent, Katherine L. Tucker, Caren E. Smith, Antonio Garcia-Rios, Josiemer Mattei, Chao-Qiang Lai, Laurence D. Parnell, Jose M. Ordovas

J Lipid Res. 2009 Mar; 50(3): 565–573. doi: 10.1194/jlr.P800041-JLR200

PMCID:: PMC2638110

Abstract Article PDF–553K

Select item 139191418.

Liver Transplantation in a Patient With Sitosterolemia and Cirrhosis

TATU A. MIETTINEN, ERIC L. KLETT, HELENA GYLLING, HELENA ISONIEMI, SHAILENDRA B. PATEL

Gastroenterology. Author manuscript; available in PMC 2006 Mar 7.

Published in final edited form as: Gastroenterology. 2006 Feb; 130(2): 542–547. doi: 10.1053/j.gastro.2005.10.022

PMCID:: PMC1391914

Abstract Article PDF–1.2M

Select item 863962019.

NF-κB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition–Associated Cholestasis

Swati Ghosh, Michael W. Devereaux, Aimee L. Anderson, Sarah Gehrke, Julie A. Reisz, Angelo D’Alessandro, David J. Orlicky, Mark Lovell, Karim C. El Kasmi, Colin T. Shearn, Ronald J. Sokol

Hepatology. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Hepatology. 2021 Dec; 74(6): 3284–3300. Published online 2021 Aug 27. doi: 10.1002/hep.32071

PMCID:: PMC8639620

Abstract Article PDF–1.8M

Select item 403803420.

The effects of ABCG5/G8 polymorphisms on HDL cholesterol concentrations depend on ABCA1 genetic variants in the Boston Puerto Rican Health Study

Mireia Junyent, Katherine L. Tucker, Caren E. Smith, Jacqueline M. Lane, Josiemer Mattei, Chao-Qiang Lai, Laurence D. Parnell, Jose M. Ordovas

Nutr Metab Cardiovasc Dis. Author manuscript; available in PMC 2014 May 29.

Published in final edited form as: Nutr Metab Cardiovasc Dis. 2010 Oct; 20(8): 558–566. Published online 2009 Aug 18. doi: 10.1016/j.numecd.2009.05.005

PMCID:: PMC4038034

Abstract Article PDF–640K

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