| 1 | ABCA1, HDLDT1
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| ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion.
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| Bi X, Pashos EE, Cuchel M, Lyssenko NN, Hernandez M, Picataggi A, McParland J, Yang W, Liu Y, Yan R, Yu C, DerOhannessian SL, Phillips MC, Morrisey EE, Duncan SA, Rader DJ.
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| EBioMedicine 18:139-145. doi: 10.1016/j.ebiom.2017.03.018. Epub 2017 Mar 14.
2017
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| 2 | ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
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| Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
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| Rahalkar AR, Hegele RA.
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| Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
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| 3 | ABCA1, HDLDT1
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| Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis.
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| Kyriakou T, Hodgkinson C, Pontefract DE, Iyengar S, Howell WM, Wong YK, Eriksson P, Ye S.
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| Arterioscler Thromb Vasc Biol 25(2):418-23. Epub 2004 Nov 4. 2005
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| 4 | ABCA1, HDLDT1
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| Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.
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| Guo Z, Inazu A, Yu W, Suzumura T, Okamoto M, Nohara A, Higashikata T, Sano R, Wakasugi K, Hayakawa T, Yoshida K, Suehiro T, Schmitz G, Mabuchi H.
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| J Hum Genet 47(6):325-9. 2002
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| 5 | ABCA1, HDLDT1, HDLD
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| Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
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| Brooks-Wilson A, et al.
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| Nat Genet 22(4):336-45. 1999
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| 6 | ABCA1, HDLDT1
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| The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
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| Bodzioch M, et al.
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| Nat Genet 22(4):347-51. 1999
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| 7 | HDLDT1, ABCA1
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| Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
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| Rust S, et al.
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| Nat Genet 22(4):352-5. 1999
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| 8 | ABCA1, HDLDT1
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| Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original tangier disease kindred.
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| Remaley AT, et al.
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| Proc Natl Acad Sci U S A 96(22):12685-90 1999
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| 9 | HDLDT1
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| Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.
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| Rust S, et al.
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| Nat Genet 20 : 96-98. 1998
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| 10 | HDLDT1
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| Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease.
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| Francis GA, et al.
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| J Clin Invest 96(1):78-87 1995
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