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2. 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. Lu K; Lee MH; Hazard S; Brooks-Wilson A; Hidaka H; Kojima H; Ose L; Stalenhoef AF; Mietinnen T; Bjorkhem I; Bruckert E; Pandya A; Brewer HB; Salen G; Dean M; Srivastava A; Patel SB Am J Hum Genet; 2001 Aug; 69(2):278-90. PubMed ID: 11452359 [TBL] [Abstract][Full Text] [Related]
3. Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. Heimerl S; Langmann T; Moehle C; Mauerer R; Dean M; Beil FU; von Bergmann K; Schmitz G Hum Mutat; 2002 Aug; 20(2):151. PubMed ID: 12124998 [TBL] [Abstract][Full Text] [Related]
4. Association of ABCG5 and ABCG8 Transporters with Sitosterolemia. Bydlowski SP; Levy D Adv Exp Med Biol; 2024; 1440():31-42. PubMed ID: 38036873 [TBL] [Abstract][Full Text] [Related]
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8. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients. Kaya Z; Sal E; Yorulmaz A; Hsieh YP; Gülen H; Yıldırım AT; Niu DM; Tekin A J Clin Lipidol; 2021; 15(5):690-698. PubMed ID: 34304999 [TBL] [Abstract][Full Text] [Related]
9. Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. Graf GA; Cohen JC; Hobbs HH J Biol Chem; 2004 Jun; 279(23):24881-8. PubMed ID: 15054092 [TBL] [Abstract][Full Text] [Related]
10. Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter. Xavier BM; Zein AA; Venes A; Wang J; Lee JY Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33228147 [TBL] [Abstract][Full Text] [Related]
11. Sitosterolemia. Salen G; Patel S; Batta AK Cardiovasc Drug Rev; 2002; 20(4):255-70. PubMed ID: 12481199 [TBL] [Abstract][Full Text] [Related]
12. A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. Klett EL; Lu K; Kosters A; Vink E; Lee MH; Altenburg M; Shefer S; Batta AK; Yu H; Chen J; Klein R; Looije N; Oude-Elferink R; Groen AK; Maeda N; Salen G; Patel SB BMC Med; 2004 Mar; 2():5. PubMed ID: 15040800 [TBL] [Abstract][Full Text] [Related]
13. Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. Plösch T; Bloks VW; Terasawa Y; Berdy S; Siegler K; Van Der Sluijs F; Kema IP; Groen AK; Shan B; Kuipers F; Schwarz M Gastroenterology; 2004 Jan; 126(1):290-300. PubMed ID: 14699507 [TBL] [Abstract][Full Text] [Related]
14. A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. Pandit B; Ahn GS; Hazard SE; Gordon D; Patel SB BMC Med Genet; 2006 Feb; 7():13. PubMed ID: 16507104 [TBL] [Abstract][Full Text] [Related]
15. Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta. Repa JJ; Berge KE; Pomajzl C; Richardson JA; Hobbs H; Mangelsdorf DJ J Biol Chem; 2002 May; 277(21):18793-800. PubMed ID: 11901146 [TBL] [Abstract][Full Text] [Related]
16. Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease. Rudkowska I; Jones PJ Nutr Rev; 2008 Jun; 66(6):343-8. PubMed ID: 18522623 [TBL] [Abstract][Full Text] [Related]
17. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. Bastida JM; Benito R; Janusz K; Díez-Campelo M; Hernández-Sánchez JM; Marcellini S; Girós M; Rivera J; Lozano ML; Hortal A; Hernández-Rivas JM; González-Porras JR J Thromb Haemost; 2017 Sep; 15(9):1859-1866. PubMed ID: 28696550 [TBL] [Abstract][Full Text] [Related]
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19. First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes. Tada H; Nomura A; Yamagishi M; Kawashiri MA J Clin Lipidol; 2018; 12(5):1164-1168.e4. PubMed ID: 30007774 [TBL] [Abstract][Full Text] [Related]
20. The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. Chase TH; Lyons BL; Bronson RT; Foreman O; Donahue LR; Burzenski LM; Gott B; Lane P; Harris B; Ceglarek U; Thiery J; Wittenburg H; Thon JN; Italiano JE; Johnson KR; Shultz LD Blood; 2010 Feb; 115(6):1267-76. PubMed ID: 19846887 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]