(Q37173897)

18 August 2017

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort (English)

1 reference

18 August 2017

0 references

1 reference

1 reference

2

Beverley Adams-Huet

1 reference

18 August 2017

Zahid Ahmad

1

1 reference

18 August 2017

Chiyuan Chen

series ordinal

3

1 reference

18 August 2017

Abhimanyu Garg

series ordinal

4

1 reference

18 August 2017

11 October 2012

1 reference

Circulation: Cardiovascular Genetics

18 August 2017

1 reference

18 August 2017

5

1 reference

18 August 2017

6

1 reference

18 August 2017

666-675

1 reference

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Molecular spectrum of autosomal dominant hypercholesterolemia in France

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Biological, clinical and population relevance of 95 loci for blood lipids

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Plasma PCSK9 is associated with age, sex, and multiple metabolic markers in a population-based sample of children and adolescents

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Genetic and metabolic determinants of plasma PCSK9 levels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Antagonism of Secreted PCSK9 Increases Low Density Lipoprotein Receptor Expression in HepG2 Cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

6 September 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=3774009

After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Molecular biology of PCSK9: its role in LDL metabolism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

The apolipoprotein E polymorphism: a comparison of allele frequencies and effects in nine populations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Prevalence of familial hypercholesterolemia in Johannesburg Jews

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Update of the Portuguese Familial Hypercholesterolaemia Study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Association of heterozygous familial hypercholesterolemia with smaller HDL particle size.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Corneal arcus, case finding and definition of individual clinical risk in heterozygous familial hypercholesterolaemia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Genetic and environmental influences on serum lipid levels in twins.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Familial hypercholesterolaemia--a common genetic disorder in the Afrikaans population.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Executive Summary: Heart Disease and Stroke Statistics—2010 Update

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774009

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

4 December 2018

1 reference

12 December 2020

Serum apolipoproteins in heterozygous familial hypercholesterolemia

1 reference

12 December 2020

Apolipoprotein A-I kinetics in heterozygous familial hypercholesterolemia: a stable isotope study

1 reference

12 December 2020

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children

1 reference

12 December 2020

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

1 reference

12 December 2020

Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population

1 reference

12 December 2020

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

1 reference

12 December 2020

10.1161/CIRCGENETICS.112.963587

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23064986

1 reference