(Q28361283)

6 July 2017

1 reference

title

Genetic basis of sitosterolemia (English)

1 reference

6 July 2017

M H Lee

1

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6 July 2017

K Lu

series ordinal

2

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6 July 2017

S B Patel

series ordinal

3

1 reference

6 July 2017

language of work or name

English

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publication date

1 April 2001

1 reference

Current Opinion in Lipidology

6 July 2017

published in

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6 July 2017

volume

12

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6 July 2017

issue

2

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6 July 2017

page(s)

141-149

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

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

A receptor-mediated pathway for cholesterol homeostasis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Localization of human ATP-binding cassette transporter 1 (ABC1) in normal and atherosclerotic tissues

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

An inventory of the human ABC proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Metabolism of beta-sitosterol in man.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Molecular background of the Finnish disease heritage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1350992

Absorbability of beta-sitosterol in humans

27 November 2018

1 reference

12 December 2020

Usefulness of gas chromatographic profiles of plasma total lipids in diagnosis of phytosterolemia

1 reference

12 December 2020

Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis

1 reference

12 December 2020

1 reference

12 December 2020

Familial spinal xanthomatosis with sitosterolemia

1 reference

12 December 2020

The effect of increased hepatic sitosterol on the regulation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase and cholesterol 7 alpha-hydroxylase in the rat and sitosterolemic homozygotes

1 reference

12 December 2020

Phytosterolaemia in a Norwegian family: diagnosis and characterization of the first Scandinavian case

1 reference

12 December 2020

Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers

1 reference

12 December 2020

10.1097/00041433-200104000-00007

Identifiers

DOI

1 reference

release_yrxbrtjycrhsbg5sg3yddjbjqy

6 July 2017

Fatcat ID

0 references

PMC publication ID

1350992

1 reference

6 July 2017

1 reference