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2. Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. Cameron J; Ranheim T; Halvorsen B; Kulseth MA; Leren TP; Berge KE Atherosclerosis; 2010 Mar; 209(1):163-6. PubMed ID: 19765707 [TBL] [Abstract][Full Text] [Related]
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6. Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. Mott S; Yu L; Marcil M; Boucher B; Rondeau C; Genest J Atherosclerosis; 2000 Oct; 152(2):457-68. PubMed ID: 10998475 [TBL] [Abstract][Full Text] [Related]
7. HDL particle size is a critical determinant of ABCA1-mediated macrophage cellular cholesterol export. Du XM; Kim MJ; Hou L; Le Goff W; Chapman MJ; Van Eck M; Curtiss LK; Burnett JR; Cartland SP; Quinn CM; Kockx M; Kontush A; Rye KA; Kritharides L; Jessup W Circ Res; 2015 Mar; 116(7):1133-42. PubMed ID: 25589556 [TBL] [Abstract][Full Text] [Related]
8. Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol. Candini C; Schimmel AW; Peter J; Bochem AE; Holleboom AG; Vergeer M; Dullaart RP; Dallinga-Thie GM; Hovingh GK; Khoo KL; Fasano T; Bocchi L; Calandra S; Kuivenhoven JA; Motazacker MM Atherosclerosis; 2010 Dec; 213(2):492-8. PubMed ID: 20880529 [TBL] [Abstract][Full Text] [Related]
9. A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. Maekawa M; Kikuchi J; Kotani K; Nagao K; Odgerel T; Ueda K; Kawano M; Furukawa Y; Sakurabayashi I Atherosclerosis; 2009 Sep; 206(1):216-22. PubMed ID: 19344898 [TBL] [Abstract][Full Text] [Related]
10. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. Clee SM; Kastelein JJ; van Dam M; Marcil M; Roomp K; Zwarts KY; Collins JA; Roelants R; Tamasawa N; Stulc T; Suda T; Ceska R; Boucher B; Rondeau C; DeSouich C; Brooks-Wilson A; Molhuizen HO; Frohlich J; Genest J; Hayden MR J Clin Invest; 2000 Nov; 106(10):1263-70. PubMed ID: 11086027 [TBL] [Abstract][Full Text] [Related]
11. Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1. El Khoury P; Couvert P; Elbitar S; Ghaleb Y; Abou-Khalil Y; Azar Y; Ayoub C; Superville A; Guérin M; Rabès JP; Varret M; Boileau C; Jambart S; Giral P; Carrié A; Le Goff W; Abifadel M J Clin Lipidol; 2018; 12(6):1374-1382. PubMed ID: 30361172 [TBL] [Abstract][Full Text] [Related]
12. A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia. Carcora Y; Brook RD; Farhat L; Willer CJ; Rubenfire M; Kim DS J Clin Lipidol; 2018; 12(4):878-882. PubMed ID: 29773422 [TBL] [Abstract][Full Text] [Related]
13. Tangier disease: epidemiology, pathophysiology, and management. Puntoni M; Sbrana F; Bigazzi F; Sampietro T Am J Cardiovasc Drugs; 2012 Oct; 12(5):303-11. PubMed ID: 22913675 [TBL] [Abstract][Full Text] [Related]
14. Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. Fasano T; Zanoni P; Rabacchi C; Pisciotta L; Favari E; Adorni MP; Deegan PB; Park A; Hlaing T; Feher MD; Jones B; Uzak AS; Kardas F; Dardis A; Sechi A; Bembi B; Minuz P; Bertolini S; Bernini F; Calandra S Mol Genet Metab; 2012 Nov; 107(3):534-41. PubMed ID: 22959828 [TBL] [Abstract][Full Text] [Related]
15. Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. Per H; Canpolat M; Bayram AK; Ulgen E; Baran B; Kardas F; Gumus H; Kumandas S; Bilguvar K; Çağlayan AO Neuropediatrics; 2015 Dec; 46(6):420-3. PubMed ID: 26479764 [TBL] [Abstract][Full Text] [Related]
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17. The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. Hovingh GK; Van Wijland MJ; Brownlie A; Bisoendial RJ; Hayden MR; Kastelein JJ; Groen AK J Lipid Res; 2003 Jun; 44(6):1251-5. PubMed ID: 12700344 [TBL] [Abstract][Full Text] [Related]
18. The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. Neufeld EB; Stonik JA; Demosky SJ; Knapper CL; Combs CA; Cooney A; Comly M; Dwyer N; Blanchette-Mackie J; Remaley AT; Santamarina-Fojo S; Brewer HB J Biol Chem; 2004 Apr; 279(15):15571-8. PubMed ID: 14747463 [TBL] [Abstract][Full Text] [Related]
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20. HDL, cholesterol efflux, and ABCA1: Free from good and evil dualism. Ogura M J Pharmacol Sci; 2022 Oct; 150(2):81-89. PubMed ID: 36055755 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]