Mechanisms of disease: genetic causes of familial hypercholesterolemia (Q36767518)

16 August 2017

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title

Mechanisms of disease: genetic causes of familial hypercholesterolemia (English)

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16 August 2017

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Anne K Soutar

1

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PubMed ID

17380167

16 August 2017

Rossi P Naoumova

series ordinal

2

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16 August 2017

1 April 2007

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Nature Clinical Practice Cardiovascular Medicine

16 August 2017

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16 August 2017

4

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16 August 2017

214-225

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16 August 2017

4

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Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

16 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The LDL receptor gene: a mosaic of exons shared with different proteins

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg(3500)-->Gln mutation in hyperlipidemic Chinese

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol-fed mice

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Response to HMG CoA reductase inhibitors in heterozygous familial hypercholesterolemia due to the 10-kb deletion ("French Canadian mutation") of the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Analysis of Sequence Variations in the LDL Receptor Gene in Spain: General Gene Screening or Search for Specific Alterations?

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Cascade genetic screening for familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Implementation of cascade testing for the detection of familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Familial hypercholesterolaemia: a pilot study of parents' and children's concerns.

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO0836

7 January 2021

Identifiers

DOI

10.1038/NCPCARDIO0836

1 reference

16 August 2017

1 reference

PubMed ID

17380167