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Items: 1 to 20 of 115

1.

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
2.

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S.

Mol Genet Metab. 2012 Nov;107(3):534-41. doi: 10.1016/j.ymgme.2012.08.005. Epub 2012 Aug 18.

PMID:
22959828
3.

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene.

Altilia S, Pisciotta L, Garuti R, Tarugi P, Cantafora A, Calabresi L, Tagliabue J, Maccari S, Bernini F, Zanotti I, Vergani C, Bertolini S, Calandra S.

J Lipid Res. 2003 Feb;44(2):254-64. Epub 2002 Nov 4.

4.

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
5.

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.

6.

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
7.

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
8.

Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease.

Rhyne J, Mantaring MM, Gardner DF, Miller M.

BMC Med Genet. 2009 Jan 8;10:1. doi: 10.1186/1471-2350-10-1.

9.

Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.

Candini C, Schimmel AW, Peter J, Bochem AE, Holleboom AG, Vergeer M, Dullaart RP, Dallinga-Thie GM, Hovingh GK, Khoo KL, Fasano T, Bocchi L, Calandra S, Kuivenhoven JA, Motazacker MM.

Atherosclerosis. 2010 Dec;213(2):492-8. doi: 10.1016/j.atherosclerosis.2010.08.062. Epub 2010 Aug 26.

PMID:
20880529
10.

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
11.

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.

Arterioscler Thromb Vasc Biol. 2000 Aug;20(8):1983-9.

12.

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
14.

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
15.

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.

Di Leo E, Magnolo L, Lancellotti S, Crocè L, Visintin L, Tiribelli C, Bertolini S, Calandra S, Tarugi P.

J Med Genet. 2007 Mar;44(3):219-24. Epub 2006 Dec 8.

16.

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
17.

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
18.

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
19.

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
20.

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.

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