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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. Among authors: zhang lh. Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905. Nat Genet. 1999. PMID: 10431236
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. Among authors: zhang lh. Lancet. 1999 Oct 16;354(9187):1341-6. doi: 10.1016/s0140-6736(99)07026-9. Lancet. 1999. PMID: 10533863
Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.
Singaraja RR, Bocher V, James ER, Clee SM, Zhang LH, Leavitt BR, Tan B, Brooks-Wilson A, Kwok A, Bissada N, Yang YZ, Liu G, Tafuri SR, Fievet C, Wellington CL, Staels B, Hayden MR. Singaraja RR, et al. Among authors: zhang lh. J Biol Chem. 2001 Sep 7;276(36):33969-79. doi: 10.1074/jbc.M102503200. Epub 2001 Jun 21. J Biol Chem. 2001. PMID: 11423537 Free article.
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Robitaille J, et al. Among authors: zhang lh. Nat Genet. 2002 Oct;32(2):326-30. doi: 10.1038/ng957. Epub 2002 Aug 12. Nat Genet. 2002. PMID: 12172548
Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux.
See RH, Caday-Malcolm RA, Singaraja RR, Zhou S, Silverston A, Huber MT, Moran J, James ER, Janoo R, Savill JM, Rigot V, Zhang LH, Wang M, Chimini G, Wellington CL, Tafuri SR, Hayden MR. See RH, et al. Among authors: zhang lh. J Biol Chem. 2002 Nov 1;277(44):41835-42. doi: 10.1074/jbc.M204923200. Epub 2002 Aug 23. J Biol Chem. 2002. PMID: 12196520 Free article.
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol.
Wellington CL, Yang YZ, Zhou S, Clee SM, Tan B, Hirano K, Zwarts K, Kwok A, Gelfer A, Marcil M, Newman S, Roomp K, Singaraja R, Collins J, Zhang LH, Groen AK, Hovingh K, Brownlie A, Tafuri S, Genest J Jr, Kastelein JJ, Hayden MR. Wellington CL, et al. Among authors: zhang lh. J Lipid Res. 2002 Nov;43(11):1939-49. doi: 10.1194/jlr.m200277-jlr200. J Lipid Res. 2002. PMID: 12401893 Free article.
A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.
Acuña-Alonzo V, Flores-Dorantes T, Kruit JK, Villarreal-Molina T, Arellano-Campos O, Hünemeier T, Moreno-Estrada A, Ortiz-López MG, Villamil-Ramírez H, León-Mimila P, Villalobos-Comparan M, Jacobo-Albavera L, Ramírez-Jiménez S, Sikora M, Zhang LH, Pape TD, Granados-Silvestre Mde A, Montufar-Robles I, Tito-Alvarez AM, Zurita-Salinas C, Bustos-Arriaga J, Cedillo-Barrón L, Gómez-Trejo C, Barquera-Lozano R, Vieira-Filho JP, Granados J, Romero-Hidalgo S, Huertas-Vázquez A, González-Martín A, Gorostiza A, Bonatto SL, Rodríguez-Cruz M, Wang L, Tusié-Luna T, Aguilar-Salinas CA, Lisker R, Moises RS, Menjivar M, Salzano FM, Knowler WC, Bortolini MC, Hayden MR, Baier LJ, Canizales-Quinteros S. Acuña-Alonzo V, et al. Among authors: zhang lh. Hum Mol Genet. 2010 Jul 15;19(14):2877-85. doi: 10.1093/hmg/ddq173. Epub 2010 Apr 23. Hum Mol Genet. 2010. PMID: 20418488 Free PMC article.
1,342 results