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Items: 1 to 20 of 121

1.

A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.

Hooper AJ, Robertson K, Ng L, Kattampallil JS, Latchem D, Willsher PC, Thom J, Baker RI, Burnett JR.

Clin Chim Acta. 2009 Nov;409(1-2):136-9. doi: 10.1016/j.cca.2009.08.017. Epub 2009 Aug 31.

PMID:
19723515
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. doi: 10.1016/j.atherosclerosis.2009.08.039. Epub 2009 Aug 29.

PMID:
19765707
3.

A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease.

Negi SI, Brautbar A, Virani SS, Anand A, Polisecki E, Asztalos BF, Ballantyne CM, Schaefer EJ, Jones PH.

J Clin Lipidol. 2013 Jan-Feb;7(1):82-7. doi: 10.1016/j.jacl.2012.09.004. Epub 2012 Sep 29. Erratum in: J Clin Lipidol. 2013 Jul-Aug;7(4):385.

PMID:
23351586
4.

A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1.

Guan JZ, Tamasawa N, Brunham LR, Matsui J, Murakami H, Suda T, Ochiai S, Tsutsui M, Kudou K, Satoh K, Hayden MR.

Am J Med Genet A. 2004 Nov 1;130A(4):398-401.

PMID:
15384103
5.

The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease.

Neufeld EB, Stonik JA, Demosky SJ Jr, Knapper CL, Combs CA, Cooney A, Comly M, Dwyer N, Blanchette-Mackie J, Remaley AT, Santamarina-Fojo S, Brewer HB Jr.

J Biol Chem. 2004 Apr 9;279(15):15571-8. Epub 2004 Jan 27.

6.

Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.

Huang W, Moriyama K, Koga T, Hua H, Ageta M, Kawabata S, Mawatari K, Imamura T, Eto T, Kawamura M, Teramoto T, Sasaki J.

Biochim Biophys Acta. 2001 Jul 27;1537(1):71-8.

7.

Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease).

Nofer JR, Herminghaus G, Brodde M, Morgenstern E, Rust S, Engel T, Seedorf U, Assmann G, Bluethmann H, Kehrel BE.

J Biol Chem. 2004 Aug 6;279(32):34032-7. Epub 2004 May 25.

8.

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 Jr.

Atherosclerosis. 2000 Oct;152(2):457-68.

PMID:
10998475
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. doi: 10.1016/j.atherosclerosis.2009.02.018. Epub 2009 Feb 25.

PMID:
19344898
10.

Tangier disease and ABCA1.

Oram JF.

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):321-30. Review.

PMID:
11111099
11.

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.

Nat Genet. 1999 Aug;22(4):347-51.

PMID:
10431237
12.

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM.

Brain. 2003 Apr;126(Pt 4):920-7. Erratum in: Brain. 2003 Sep;126(Pt 9):2115.

PMID:
12615648
13.

Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia.

Slatter TL, Williams MJ, Frikke-Schmidt R, Tybjaerg-Hansen A, Morison IM, McCormick SP.

Atherosclerosis. 2006 Aug;187(2):393-400. Epub 2005 Oct 12.

PMID:
16225879
14.

Tangier disease: epidemiology, pathophysiology, and management.

Puntoni M, Sbrana F, Bigazzi F, Sampietro T.

Am J Cardiovasc Drugs. 2012 Oct 1;12(5):303-11. doi: 10.2165/11634140-000000000-00000.

PMID:
22913675
15.

Tangier disease four decades of research: a reflection of the importance of HDL.

Kolovou GD, Mikhailidis DP, Anagnostopoulou KK, Daskalopoulou SS, Cokkinos DV.

Curr Med Chem. 2006;13(7):771-82. Review.

PMID:
16611066
16.

Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.

Brousseau ME, Schaefer EJ, Dupuis J, Eustace B, Van Eerdewegh P, Goldkamp AL, Thurston LM, FitzGerald MG, Yasek-McKenna D, O'Neill G, Eberhart GP, Weiffenbach B, Ordovas JM, Freeman MW, Brown RH Jr, Gu JZ.

J Lipid Res. 2000 Mar;41(3):433-41. Erratum in: J Lipid Res 2001 Jan;42(1):155.

17.

Endocytosis is enhanced in Tangier fibroblasts: possible role of ATP-binding cassette protein A1 in endosomal vesicular transport.

Zha X, Genest J Jr, McPherson R.

J Biol Chem. 2001 Oct 19;276(42):39476-83. Epub 2001 Aug 14.

18.

Severe Tangier disease with a novel ABCA1 gene mutation.

Schippling S, Orth M, Beisiegel U, Rosenkranz T, Vogel P, Münchau A, Hagel C, Seedorf U.

Neurology. 2008 Oct 28;71(18):1454-5. doi: 10.1212/01.wnl.0000327870.29639.20. No abstract available.

PMID:
18955690
19.

ATP-binding cassette transporter 1 (ABCA1) deficiency decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1.

Lhermusier T, Severin S, Van Rothem J, Garcia C, Bertrand-Michel J, Le Faouder P, Hechler B, Broccardo C, Couvert P, Chimini G, Sié P, Payrastre B.

J Thromb Haemost. 2016 Mar;14(3):585-95. doi: 10.1111/jth.13247. Epub 2016 Feb 17.

PMID:
26749169
20.

Screening for functional sequence variations and mutations in ABCA1.

Probst MC, Thumann H, Aslanidis C, Langmann T, Buechler C, Patsch W, Baralle FE, Dallinga-Thie GM, Geisel J, Keller C, Menys VC, Schmitz G.

Atherosclerosis. 2004 Aug;175(2):269-79.

PMID:
15262183

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