(Q24322584)

GOA release 2020-03-11

cholesterol homeostasis

1 reference

GOA release 2020-03-11

heart disease

1 reference

inferred from title

coronary artery disease

1 reference

S E Humphries

1

0 references

R A Whittall

2

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C S Hubbart

3

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S Maplebeck

4

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J A Cooper

5

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A K Soutar

6

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R Naoumova

7

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G R Thompson

8

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M Seed

9

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P N Durrington

10

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J P Miller

11

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D J B Betteridge

12

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H A W Neil

Journal of Medical Genetics

13

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language of work or name

English

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publication date

December 2006

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published in

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volume

43

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issue

12

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page(s)

943-9

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cites work

Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

No adjustments are needed for multiple comparisons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

The UMD-LDLR database: additions to the software and 490 new entries to the database.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Genetic variants in PCSK9 affect the cholesterol level in Japanese

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563208

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

29 November 2018

1 reference

12 December 2020

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

1 reference

12 December 2020

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

12 December 2020

Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations

1 reference

12 December 2020

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

1 reference

12 December 2020

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

1 reference

12 December 2020

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.038356

1 reference

1 reference

1 reference

PubMed publication ID

17142622

1 reference