Phenotypic heterogeneity of sitosterolemia (Q45064221)

9 December 2017

Phenotypic heterogeneity of sitosterolemia (English)

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9 December 2017

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phenotypic heterogeneity

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5

Robert A Hegele

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author name string

Jian Wang

1

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9 December 2017

Tisha Joy

2

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9 December 2017

David Mymin

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9 December 2017

Jiri Frohlich

4

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9 December 2017

16 September 2004

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Journal of Lipid Research

9 December 2017

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9 December 2017

45

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9 December 2017

2361-2367

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9 December 2017

12

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Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

9 December 2017

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Phytosterolaemia in three unrelated South African families

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Phenotypic variability in familial hypercholesterolaemia: an update

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Cerebrotendinous Xanthomatosis

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Metabolism of beta-sitosterol in man.

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

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

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

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

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

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

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Novel donor splice site mutation of ABCG5 gene in sitosterolemia

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Effects of dietary phytosterols on cholesterol metabolism and atherosclerosis: clinical and experimental evidence

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Genetic basis of sitosterolemia

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins]

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7 alpha-hydroxylase

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster

21 January 2018

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https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M400310-JLR200

10.1194/JLR.M400310-JLR200

21 January 2018

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DOI

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9 December 2017

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