A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. (Q34399014)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16465619%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16465619%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

0 references

1 reference

Alexander Pertsemlidis

2

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16 January 2020

5

Gloria L Vega

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16 January 2020

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Helen H Hobbs

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16 January 2020

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Jonathan C Cohen

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16 January 2020

author name string

Ingrid K Kotowski

1

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16 January 2020

Amy Luke

3

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16 January 2020

Richard S Cooper

4

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16 January 2020

language of work or name

English

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publication date

20 January 2006

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American Journal of Human Genetics

16 January 2020

published in

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16 January 2020

volume

78

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16 January 2020

issue

3

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16 January 2020

page(s)

410-422

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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

16 January 2020

cites work

1 reference

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Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9

6 July 2018

1 reference

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

6 July 2018

1 reference

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Wild-type PCSK9 inhibits LDL clearance but does not affect apoB-containing lipoprotein production in mouse and cultured cells

6 July 2018

1 reference

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

6 July 2018

1 reference

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Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity

6 July 2018

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

6 July 2018

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

6 July 2018

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Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population

6 July 2018

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Haploview: analysis and visualization of LD and haplotype maps

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

6 July 2018

1 reference

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Randomized clinical trials on the effects of dietary fat and carbohydrate on plasma lipoproteins and cardiovascular disease

6 July 2018

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

6 July 2018

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AVID: A global alignment program

6 July 2018

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Strategies and tools for whole-genome alignments

6 July 2018

1 reference

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PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification

6 July 2018

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Dobzhansky-Muller incompatibilities in protein evolution

6 July 2018

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The structure of haplotype blocks in the human genome

6 July 2018

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

6 July 2018

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Prediction of deleterious human alleles

6 July 2018

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The Cincinnati Lipid Research Clinic family study: cultural and biological determinants of lipids and lipoprotein concentrations

6 July 2018

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Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia

6 July 2018

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

6 July 2018

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Genetic variants in PCSK9 affect the cholesterol level in Japanese

27 October 2018

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Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.

27 October 2018

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Genetic and environmental influences on serum lipid levels in twins.

27 October 2018

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27 October 2018

Identifiers

DOI

10.1086/500615

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16465619%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16465619%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

16465619

1 reference