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Items: 20

1.

An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus.

Shulenin S, Schriml LM, Remaley AT, Fojo S, Brewer B, Allikmets R, Dean M.

Cytogenet Cell Genet. 2001;92(3-4):204-8.

PMID:
11435688
2.

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH.

Science. 2000 Dec 1;290(5497):1771-5.

3.
4.

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.

Am J Hum Genet. 2000 Feb;66(2):402-12.

5.

ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport.

Klucken J, Büchler C, Orsó E, Kaminski WE, Porsch-Ozcürümez M, Liebisch G, Kapinsky M, Diederich W, Drobnik W, Dean M, Allikmets R, Schmitz G.

Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):817-22.

6.

Cyclosporin-induced dyslipoproteinemia is associated with selective activation of SREBP-2.

Wu J, Zhu YH, Patel SB.

Am J Physiol. 1999 Dec;277(6 Pt 1):E1087-94.

PMID:
10600799
7.

An inventory of the human ABC proteins.

Klein I, Sarkadi B, Váradi A.

Biochim Biophys Acta. 1999 Dec 6;1461(2):237-62. Review.

8.

Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel.

Sossey-Alaoui K, Lyon JA, Jones L, Abidi FE, Hartung AJ, Hane B, Schwartz CE, Stevenson RE, Srivastava AK.

Genomics. 1999 Sep 15;60(3):330-40.

PMID:
10493832
9.

Nonsense-mediated mRNA decay in health and disease.

Frischmeyer PA, Dietz HC.

Hum Mol Genet. 1999;8(10):1893-900. Review.

PMID:
10469842
10.

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denèfle P, Assmann G.

Nat Genet. 1999 Aug;22(4):352-5.

PMID:
10431238
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.

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.

Nat Genet. 1999 Aug;22(4):336-45.

PMID:
10431236
13.

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

Patel SB, Salen G, Hidaka H, Kwiterovich PO, Stalenhoef AF, Miettinen TA, Grundy SM, Lee MH, Rubenstein JS, Polymeropoulos MH, Brownstein MJ.

J Clin Invest. 1998 Sep 1;102(5):1041-4.

14.

Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis.

Patel SB, Honda A, Salen G.

J Lipid Res. 1998 May;39(5):1055-61.

15.

TreeView: an application to display phylogenetic trees on personal computers.

Page RD.

Comput Appl Biosci. 1996 Aug;12(4):357-8. No abstract available.

PMID:
8902363
16.

Review article: new insights into the mechanisms of hepatic transport and bile secretion.

Erlinger S.

J Gastroenterol Hepatol. 1996 Jun;11(6):575-9. Review.

PMID:
8792313
17.

Inferring phylogenies from protein sequences by parsimony, distance, and likelihood methods.

Felsenstein J.

Methods Enzymol. 1996;266:418-27. No abstract available.

PMID:
8743697
19.
20.

Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis.

Gregg RE, Connor WE, Lin DS, Brewer HB Jr.

J Clin Invest. 1986 Jun;77(6):1864-72.

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