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Results: 1 to 20 of 193

1.

Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations.

Koseki M, Matsuyama A, Nakatani K, Inagaki M, Nakaoka H, Kawase R, Yuasa-Kawase M, Tsubakio-Yamamoto K, Masuda D, Sandoval JC, Ohama T, Nakagawa-Toyama Y, Matsuura F, Nishida M, Ishigami M, Hirano K, Sakane N, Kumon Y, Suehiro T, Nakamura T, Shimomura I, Yamashita S.

J Atheroscler Thromb. 2009 Jun;16(3):292-6. Epub 2009 Jun 25.

PMID:
19556721
[PubMed - indexed for MEDLINE]
Free Article
2.

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.

PMID:
11476965
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.

Ishii J, Nagano M, Kujiraoka T, Ishihara M, Egashira T, Takada D, Tsuji M, Hattori H, Emi M.

J Hum Genet. 2002;47(7):366-9.

PMID:
12111371
[PubMed - indexed for MEDLINE]
5.

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.

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.

J Hum Genet. 2002;47(6):325-9.

PMID:
12111381
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency.

Nishida Y, Hirano K, Tsukamoto K, Nagano M, Ikegami C, Roomp K, Ishihara M, Sakane N, Zhang Z, Tsujii Ki K, Matsuyama A, Ohama T, Matsuura F, Ishigami M, Sakai N, Hiraoka H, Hattori H, Wellington C, Yoshida Y, Misugi S, Hayden MR, Egashira T, Yamashita S, Matsuzawa Y.

Biochem Biophys Res Commun. 2002 Jan 18;290(2):713-21.

PMID:
11785958
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment.

Brunham LR, Kruit JK, Pape TD, Timmins JM, Reuwer AQ, Vasanji Z, Marsh BJ, Rodrigues B, Johnson JD, Parks JS, Verchere CB, Hayden MR.

Nat Med. 2007 Mar;13(3):340-7. Epub 2007 Feb 18.

PMID:
17322896
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
11504722
[PubMed - indexed for MEDLINE]
Free Article
11.

Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction.

Vergeer M, Brunham LR, Koetsveld J, Kruit JK, Verchere CB, Kastelein JJ, Hayden MR, Stroes ES.

Diabetes Care. 2010 Apr;33(4):869-74. doi: 10.2337/dc09-1562. Epub 2010 Jan 12.

PMID:
20067955
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The ATP binding cassette transporter A1 contributes to the secretion of interleukin 1beta from macrophages but not from monocytes.

Zhou X, Engel T, Goepfert C, Erren M, Assmann G, von Eckardstein A.

Biochem Biophys Res Commun. 2002 Mar 1;291(3):598-604.

PMID:
11855831
[PubMed - indexed for MEDLINE]
13.

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A, Fasano T, Alessandrini P, Bon GB, Siepi D, Mannarino E, Cattin L, Averna M, Cefalù AB, Cantafora A, Calandra S, Bertolini S.

Atherosclerosis. 2004 Feb;172(2):309-20.

PMID:
15019541
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
15163665
[PubMed - indexed for MEDLINE]
Free Article
15.

Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease.

Bocchi L, Pisciotta L, Fasano T, Candini C, Puntoni MR, Sampietro T, Bertolini S, Calandra S.

Clin Chim Acta. 2010 Apr 2;411(7-8):524-30. doi: 10.1016/j.cca.2010.01.008. Epub 2010 Jan 20.

PMID:
20093111
[PubMed - indexed for MEDLINE]
16.

Cholesterol and apolipoprotein B metabolism in Tangier disease.

Schaefer EJ, Brousseau ME, Diffenderfer MR, Cohn JS, Welty FK, O'Connor J Jr, Dolnikowski GG, Wang J, Hegele RA, Jones PJ.

Atherosclerosis. 2001 Nov;159(1):231-6.

PMID:
11689226
[PubMed - indexed for MEDLINE]
17.

Accumulation of cardiolipin and lysocardiolipin in fibroblasts from Tangier disease subjects.

Fobker M, Voss R, Reinecke H, Crone C, Assmann G, Walter M.

FEBS Lett. 2001 Jul 6;500(3):157-62.

PMID:
11445077
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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