(Q37397710)

English

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

scientific article published on 15 September 2015

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24 February 2020

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody (English)

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24 February 2020

hypercholesterolemia

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24 February 2020

Jean-Pierre Rabès

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24 February 2020

Mafalda Bourbon

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24 February 2020

Catherine Boileau

24

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24 February 2020

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24 February 2020

Matthieu Pichelin

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24 February 2020

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24 February 2020

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Paul N Hopkins

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24 February 2020

Joep Defesche

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24 February 2020

Sigrid W Fouchier

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24 February 2020

Gérald Luc

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24 February 2020

Bertrand Cariou

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24 February 2020

Barbara Sjouke

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24 February 2020

Trond P Leren

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24 February 2020

Mariko Harada-Shiba

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24 February 2020

Hiroshi Mabuchi

10

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24 February 2020

Alain Carrié

12

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24 February 2020

Charles van Heyningen

13

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24 February 2020

Valérie Carreau

14

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24 February 2020

Michel Farnier

15

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24 February 2020

Yee P Teoh

16

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24 February 2020

Masa-Aki Kawashiri

18

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24 February 2020

Atsushi Nohara

19

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24 February 2020

Handrean Soran

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24 February 2020

A David Marais

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24 February 2020

Hayato Tada

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24 February 2020

Marianne Abifadel

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24 February 2020

Bernard Chanu

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24 February 2020

Shoji Katsuda

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24 February 2020

Ichiro Kishimoto

27

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24 February 2020

Hisashi Makino

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24 February 2020

Yoshihiro Miyamoto

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24 February 2020

Kunimasa Yagi

32

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24 February 2020

Masakazu Yamagishi

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24 February 2020

Yassine Zair

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24 February 2020

Scott Mellis

35

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24 February 2020

George D Yancopoulos

36

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24 February 2020

Neil Stahl

37

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24 February 2020

Johanna Mendoza

38

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24 February 2020

Yunling Du

39

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24 February 2020

Sara Hamon

40

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24 February 2020

Gary D Swergold

42

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24 February 2020

language of work or name

1 reference

based on heuristic

inferred from title

publication date

15 September 2015

1 reference

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24 February 2020

Circulation: Cardiovascular Genetics

1 reference

Europe PubMed Central

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24 February 2020

8

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24 February 2020

6

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Europe PubMed Central

PMC publication ID

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24 February 2020

823-831

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26374825%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PCSK9: a key modulator of cardiovascular health

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients with hypercholesterolaemia (LAPLACE-TIMI 57): a randomised, placebo-controlled, dose-ranging, phase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the Reduction of LDL-C with PCSK9 In

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Effect of a monoclonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patients: the GAUSS randomized trial.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

The PCSK9 decade

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Effect of a monoclonal antibody to PCSK9 on LDL cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

PCSK9: a convertase that coordinates LDL catabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Cascade genetic screening for familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

6 September 2017

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

26 June 2018

Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised con

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

2 September 2018

The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

2 September 2018

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

2 September 2018

The randomized placebo-phase design for clinical trials.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5098466

2 September 2018

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://pubmed.ncbi.nlm.nih.gov/26374825

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/26374825

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26374825

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCGENETICS.115.001129

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26374825%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PMC publication ID

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Europe PubMed Central

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24 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26374825%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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