(Q28365986)

English

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

scientific article published in May 2001

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11378826%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11378826%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Shailendra B. Patel

16

1 reference

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8 November 2019

author name string

M H Lee

1

1 reference

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8 November 2019

D Gordon

2

1 reference

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8 November 2019

J Ott

3

1 reference

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8 November 2019

K Lu

4

1 reference

Europe PubMed Central

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8 November 2019

L Ose

5

1 reference

Europe PubMed Central

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8 November 2019

T Miettinen

6

1 reference

Europe PubMed Central

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8 November 2019

H Gylling

7

1 reference

Europe PubMed Central

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8 November 2019

A F Stalenhoef

8

1 reference

Europe PubMed Central

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8 November 2019

A Pandya

9

1 reference

Europe PubMed Central

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8 November 2019

H Hidaka

10

1 reference

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8 November 2019

B Brewer

11

1 reference

Europe PubMed Central

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8 November 2019

H Kojima

12

1 reference

Europe PubMed Central

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8 November 2019

N Sakuma

13

1 reference

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8 November 2019

R Pegoraro

14

1 reference

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8 November 2019

G Salen

15

1 reference

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8 November 2019

language of work or name

0 references

publication date

1 May 2001

1 reference

Europe PubMed Central

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8 November 2019

European Journal of Human Genetics

1 reference

Europe PubMed Central

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8 November 2019

9

1 reference

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8 November 2019

375-384

1 reference

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8 November 2019

5

1 reference

Europe PubMed Central

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8 November 2019

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=1525333

20 March 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

20 March 2017

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

7 April 2017

Comprehensive human genetic maps: individual and sex-specific variation in recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

7 April 2017

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

29 September 2017

Phytosterolaemia in three unrelated South African families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

29 September 2017

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

29 September 2017

Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

29 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=1525333

29 September 2017

Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

29 September 2017

Molecular background of the Finnish disease heritage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

2 June 2018

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

28 July 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=1525333

27 November 2018

HMG-CoA reductase is not the site of the primary defect in phytosterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

27 November 2018

Avoiding recomputation in linkage analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1525333

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/11378826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial spinal xanthomatosis with sitosterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11378826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11378826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

beta-Sitosterolemia with generalized eruptive xanthomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11378826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11378826

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/11378826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11378826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/SJ.EJHG.5200628

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11378826%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11378826%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11378826%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

ResearchGate publication ID

0 references

Springer Nature article ID

10.1038/sj.ejhg.5200628

0 references

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