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Year Number of Results
1999 3
2000 3
2001 4
2002 8
2003 1
2004 6
2005 1
2006 1
2008 1
2009 2
2013 2
2017 1
2022 1
2024 0

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34 results

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Page 1
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr, Hayden MR. Brooks-Wilson A, et al. Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905. Nat Genet. 1999. PMID: 10431236
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
Bodzioch M, Orsó E, Klucken J, Langmann T, Böttcher A, Diederich W, Drobnik W, Barlage S, Büchler C, Porsch-Ozcürümez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G. Bodzioch M, et al. Nat Genet. 1999 Aug;22(4):347-51. doi: 10.1038/11914. Nat Genet. 1999. PMID: 10431237
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.
Marcil M, Brooks-Wilson A, Clee SM, Roomp K, Zhang LH, Yu L, Collins JA, van Dam M, Molhuizen HO, Loubster O, Ouellette BF, Sensen CW, Fichter K, Mott S, Denis M, Boucher B, Pimstone S, Genest J Jr, Kastelein JJ, Hayden MR. Marcil M, et al. Lancet. 1999 Oct 16;354(9187):1341-6. doi: 10.1016/s0140-6736(99)07026-9. Lancet. 1999. PMID: 10533863
Common and rare ABCA1 variants affecting plasma HDL cholesterol.
Wang J, Burnett JR, Near S, Young K, Zinman B, Hanley AJ, Connelly PW, Harris SB, Hegele RA. Wang J, et al. Arterioscler Thromb Vasc Biol. 2000 Aug;20(8):1983-9. doi: 10.1161/01.atv.20.8.1983. Arterioscler Thromb Vasc Biol. 2000. PMID: 10938021
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 Jr, Hayden MR. Clee SM, et al. J Clin Invest. 2000 Nov;106(10):1263-70. doi: 10.1172/JCI10727. J Clin Invest. 2000. PMID: 11086027 Free PMC article.
The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux.
Porsch-Ozcurumez M, Langmann T, Heimerl S, Borsukova H, Kaminski WE, Drobnik W, Honer C, Schumacher C, Schmitz G. Porsch-Ozcurumez M, et al. J Biol Chem. 2001 Apr 13;276(15):12427-33. doi: 10.1074/jbc.M100218200. Epub 2001 Jan 22. J Biol Chem. 2001. PMID: 11279031 Free article.
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.
Lapicka-Bodzioch K, Bodzioch M, Krüll M, Kielar D, Probst M, Kiec B, Andrikovics H, Böttcher A, Hubacek J, Aslanidis C, Suttorp N, Schmitz G. Lapicka-Bodzioch K, et al. Biochim Biophys Acta. 2001 Jul 27;1537(1):42-8. doi: 10.1016/s0925-4439(01)00053-9. Biochim Biophys Acta. 2001. PMID: 11476961 Free article.
34 results