(Q24532091)

English

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

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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 (English)

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object named as

M Dean

15

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Ingemar Björkhem

10

object named as

I Bjorkhem

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author name string

K Lu

1

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M H Lee

2

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S Hazard

3

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A Brooks-Wilson

4

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H Hidaka

5

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H Kojima

6

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L Ose

7

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A F Stalenhoef

8

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T Mietinnen

9

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E Bruckert

11

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A Pandya

12

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H B Brewer

13

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G Salen

14

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A Srivastava

16

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S B Patel

17

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language of work or name

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publication date

August 2001

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American Journal of Human Genetics

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69

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2

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278-90

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

TreeView: an application to display phylogenetic trees on personal computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

27 September 2017

Hepatic cholesterol and bile acid metabolism and intestinal cholesterol absorption in scavenger receptor class B type I-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

27 September 2017

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

27 September 2017

An inventory of the human ABC proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

27 September 2017

Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

27 September 2017

The chicken homeobox gene Hoxd-11 encodes two alternatively spliced RNA species.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

27 September 2017

Identification of an alternate type I insulin-like growth factor receptor beta subunit mRNA transcript

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

30 May 2018

Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1201544

29 November 2018

Identification of a receptor mediating absorption of dietary cholesterol in the intestine

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibition of cholesterol absorption in rats by plant sterols

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human natural killer cells and mature T lymphocytes express identical CD3 zeta subunits as defined by cDNA cloning and sequence analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of beta sitosterol on the serum lipids of young men with arteriosclerotic heart disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intestinal sterol absorption mediated by scavenger receptors is competitively inhibited by amphipathic peptides and proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effects of sitosterol on serum lipids

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absorbability of beta-sitosterol in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11452359

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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