(Q34325396)

English

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Christine L H Snozek

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Susan A Lagerstedt

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Teck K Khoo

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Melvyn Rubenfire

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

William L Isley

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Laura J Train

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Linnea M Baudhuin

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

23 July 2008

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

17

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

85-90

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Update on dyslipidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Mechanisms of disease: genetic causes of familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Cardiovascular risk in patients with growth hormone deficiency: effects of growth hormone substitution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

A systematic review of LDL apheresis in the treatment of cardiovascular disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Familial hypercholesterolemia: a challenge of diagnosis and therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Liver transplant combined with heart transplant in severe heterozygous hypercholesterolemia: report of the first case and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Long-term experience with GH replacement therapy: efficacy and safety

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

The choice of hormone replacement therapy or statin therapy in the treatment of hyperlipidemic postmenopausal women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Genotype/phenotype correlations in familial hypercholesterolaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

6 July 2018

Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.138

21 January 2018

The influence of natural menopause on postprandial lipemia in heterozygotes for familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985960

28 October 2018

Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of growth hormone on low-density lipoprotein cholesterol and lipoprotein (a) levels in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Images in cardiovascular medicine. Untreated 37-year-old homozygous familial hypercholesterolemic smoker

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of apolipoprotein E polymorphism on the response to lipid-lowering treatment with atorvastatin or fenofibrate

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of apolipoprotein E genotype on lipid levels and response to diet in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conversion technology and its role in genetic testing of inherited diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/18648394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2008.138

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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