A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol (Q24336810)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

Proprotein convertase subtilisin/kexin type 9

23 December 2019

main subject

LDL cholesterol

0 references

1 reference

GOA release 2020-03-11

cholesterol homeostasis

1 reference

GOA release 2020-03-11

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Maurizio Averna

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Patrizia Tarugi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

author name string

Tommaso Fasano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Angelo B Cefalù

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Enza Di Leo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Daniela Pollaccia

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Letizia Bocchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Vincenza Valenti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Renato Bonardi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Ornella Guardamagna

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

language of work or name

English

0 references

publication date

14 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

Arteriosclerosis, Thrombosis, and Vascular Biology

23 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

677-681

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

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

23 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

Familial hypobetalipoproteinemia: genetics and metabolism

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

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/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

Leukocyte count, diabetes mellitus and age are strong predictors of stroke in a rural population in southern Italy: an 8-year follow-up.

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

Prevalence of overweight and obesity in a rural southern Italy population and relationships with total and cardiovascular mortality: the Ventimiglia di Sicilia project

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

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/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

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/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

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/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

Familial hypobetalipoproteinemia: a review

1 reference

https://api.crossref.org/works/10.1161%2F01.ATV.0000255311.26383.2F

7 January 2021

10.1161/01.ATV.0000255311.26383.2F

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170371%20AND%20SRC:MED&resulttype=core&format=json

release_lnkgqgbpm5awxnqjpmhb3xrrgu

23 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lnkgqgbpm5awxnqjpmhb3xrrgu

24 November 2022

mapped directly with Wikidata item

1 reference