(Q37384902)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

review article

1 reference

title

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Mathilde Varret

series ordinal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Catherine Boileau

series ordinal

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1

Marianne Abifadel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

6

Claudine Junien

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

3

Martine Devillers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

5

Danièle Erlich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Arnold Munnich

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

1 April 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

520-529

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191301%20AND%20SRC:MED&resulttype=core&format=json

Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Familial hypercholesterolaemia in Portugal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Biomedicine. Lowering LDL--not only how low, but how long?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Effect of mutations in the PCSK9 gene on the cell surface LDL receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Characterization of novel mutations in the catalytic domain of the PCSK9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Atorvastatin increases human serum levels of proprotein convertase subtilisin/kexin type 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Hepatic PCSK9 expression is regulated by nutritional status via insulin and sterol regulatory element-binding protein 1c

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

PCSK9 is phosphorylated by a Golgi casein kinase-like kinase ex vivo and circulates as a phosphoprotein in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Statins upregulate PCSK9, the gene encoding the proprotein convertase neural apoptosis-regulated convertase-1 implicated in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Biosynthesis and cellular trafficking of the convertase SKI-1/S1P: ectodomain shedding requires SKI-1 activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Self-association of human PCSK9 correlates with its LDLR-degrading activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Effects of pH and low density lipoprotein (LDL) on PCSK9-dependent LDL receptor regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Sequence variation in proprotein convertase subtilisin/kexin type 9 serine protease gene, low LDL cholesterol, and cancer incidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Antisense inhibition of proprotein convertase subtilisin/kexin type 9 reduces serum LDL in hyperlipidemic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Plasma PCSK9 preferentially reduces liver LDL receptors in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The self-inhibited structure of full-length PCSK9 at 1.9 A reveals structural homology with resistin within the C-terminal domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Molecular biology of PCSK9: its role in LDL metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Dual mechanisms for the fibrate-mediated repression of proprotein convertase subtilisin/kexin type 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Molecular basis for LDL receptor recognition by PCSK9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Fasting induces hyperlipidemia in mice overexpressing proprotein convertase subtilisin kexin type 9: lack of modulation of very-low-density lipoprotein hepatic output by the low-density lipoprotein receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Plasma PCSK9 concentrations correlate with LDL and total cholesterol in diabetic patients and are decreased by fenofibrate treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Activation of the farnesoid X receptor represses PCSK9 expression in human hepatocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Of PCSK9, cholesterol homeostasis and parasitic infections: possible survival benefits of loss-of-function PCSK9 genetic polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Catalytic activity is not required for secreted PCSK9 to reduce low density lipoprotein receptors in HepG2 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Functional characterization of Narc 1, a novel proteinase related to proteinase K

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The crystal structure of PCSK9: a regulator of plasma LDL-cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Implication of the proprotein convertase NARC-1/PCSK9 in the development of the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Secreted proprotein convertase subtilisin/kexin type 9 reduces both hepatic and extrahepatic low-density lipoprotein receptors in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Genetic variants in PCSK9 affect the cholesterol level in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

Plasma PCSK9 levels correlate with cholesterol in men but not in women

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

Serum proprotein convertase subtilisin kexin type 9 is correlated directly with serum LDL cholesterol

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

Risk factors for coronary heart disease in adult female twins. Genetic heritability and shared environmental influences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

Fat transport in lipoproteins--an integrated approach to mechanisms and disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

Pseudohomozygous type II hyperlipoproteinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

Precursor convertases in the secretory pathway, cytosol and extracellular milieu

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021

The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20882

7 January 2021