Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease (Q29147547)

GOA release 2020-03-11

cholesterol import

1 reference

GOA release 2020-03-11

heart disease

1 reference

inferred from title

coronary artery disease

1 reference

14

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Stella Trompet

11

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Veikko Salomaa

32

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Satu Männistö

33

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Markus Perola

30

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Danish Saleheen

10

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Kari Kuulasmaa

28

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Philippe Amouyel

34

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Martina Müller-Nurasyid

37

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Heribert Schunkert

42

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Jeanette Erdmann

23

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Marco M. Ferrario

Marco Ferrario

38

0 references

Jean Ferrières

Jean Ferrieres

36

0 references

Anne Tybjærg-Hansen

26

Anne Tybjærg-Hansen

1 reference

4 April 2017

41

Nilesh Samani

1 reference

4 April 2017

15

Naveed Sattar

1 reference

4 April 2017

48

Sekar Kathiresan

1 reference

4 April 2017

Børge G. Nordestgaard

24

Børge G. Nordestgaard

1 reference

4 April 2017

31

Stefan Blankenberg

1 reference

4 April 2017

12

J. Wouter Jukema

1 reference

4 April 2017

47

John Danesh

1 reference

4 April 2017

19

Dewan S. Alam

1 reference

4 April 2017

21

Goncalo Abecasis

1 reference

4 April 2017

25

Sune F. Nielsen

1 reference

4 April 2017

40

Cristen J. Willer

1 reference

4 April 2017

43

Adam S. Butterworth

1 reference

4 April 2017

44

Joanna M. M. Howson

1 reference

4 April 2017

45

Gina M. Peloso

1 reference

4 April 2017

49

Daniel J. Rader

1 reference

4 April 2017

39

Frank Kee

1 reference

4 April 2017

35

Dominique Arveiler

1 reference

4 April 2017

9

Praveen Surendran

1 reference

4 April 2017

13

Anton De Craen

1 reference

4 April 2017

Emanuele Di Angelantonio

20

Emanuele Di Angelantonio

1 reference

4 April 2017

22

Rajiv Chowdhury

1 reference

4 April 2017

46

Nathan O. Stitziel

1 reference

4 April 2017

27

Ruth Frikke Schmidt

1 reference

4 April 2017

6

Marina Cuchel

1 reference

4 April 2017

29

Dajiang J. Liu

1 reference

4 April 2017

16

Ian Ford

1 reference

4 April 2017

Paolo Zanoni

1

1 reference

4 April 2017

Sumeet A. Khetarpal

2

1 reference

4 April 2017

Daniel B. Larach

3

1 reference

4 April 2017

William F. Hancock-Cerutti

4

1 reference

4 April 2017

John S. Millar

5

1 reference

4 April 2017

Stephanie DerOhannessian

7

1 reference

4 April 2017

Anatol Kontush

8

1 reference

4 April 2017

Chris Packard

17

1 reference

4 April 2017

Abdullah al Shafi Majumder

18

1 reference

4 April 2017

CHD Exome+ Consortium

50

1 reference

4 April 2017

CARDIoGRAM Exome Consortium

51

1 reference

4 April 2017

Global Lipids Genetics Consortium

Biological, clinical and population relevance of 95 loci for blood lipids

52

1 reference

4 April 2017

language of work or name

English

0 references

publication date

11 March 2016

1 reference

4 April 2017

1 reference

4 April 2017

351

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4 April 2017

6278

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4 April 2017

1166–1171

1 reference

4 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Targeted Disruption of the PDZK1 Gene in Mice Causes Tissue-specific Depletion of the High Density Lipoprotein Receptor Scavenger Receptor Class B Type I and Altered Lipoprotein Metabolism

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Abnormal lipoprotein metabolism and reversible female infertility in HDL receptor (SR-BI)-deficient mice

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Hepatic scavenger receptor BI promotes rapid clearance of high density lipoprotein free cholesterol and its transport into bile

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

CLA-1 is an 85-kD plasma membrane glycoprotein that acts as a high-affinity receptor for both native (HDL, LDL, and VLDL) and modified (OxLDL and AcLDL) lipoproteins

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

A targeted mutation in the murine gene encoding the high density lipoprotein (HDL) receptor scavenger receptor class B type I reveals its key role in HDL metabolism

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Murine SR-BI, a high density lipoprotein receptor that mediates selective lipid uptake, is N-glycosylated and fatty acylated and colocalizes with plasma membrane caveolae

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Identification of scavenger receptor SR-BI as a high density lipoprotein receptor

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

DNA sequencing with chain-terminating inhibitors

6 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.AAD3517

A method and server for predicting damaging missense mutations

22 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.AAD3517

Gene therapy in a humanized mouse model of familial hypercholesterolemia leads to marked regression of atherosclerosis

22 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.AAD3517

NIH Image to ImageJ: 25 years of image analysis

22 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.AAD3517

Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia

22 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.AAD3517

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

22 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

7 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

22 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Differentiation of hepatocytes from pluripotent stem cells

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Functions of scavenger receptor class B, type I in atherosclerosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

JD induced pluripotent stem cell-derived hepatocytes faithfully recapitulate the pathophysiology of familial hypercholesterolemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Scavenger receptor BI: a multi-purpose player in cholesterol and steroid metabolism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Generation of liver disease-specific induced pluripotent stem cells along with efficient differentiation to functional hepatocyte-like cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Restoration of high-density lipoprotein levels by cholesteryl ester transfer protein expression in scavenger receptor class B type I (SR-BI) knockout mice does not normalize pathologies associated with SR-BI deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Highly efficient generation of human hepatocyte-like cells from induced pluripotent stem cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Scavenger receptor class B type I-mediated uptake of serum cholesterol is essential for optimal adrenal glucocorticoid production

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Absence of HDL cholesteryl ester uptake in mice via SR-BI impairs an adequate adrenal glucocorticoid-mediated stress response to fasting

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Hepatic expression of scavenger receptor class B type I (SR-BI) is a positive regulator of macrophage reverse cholesterol transport in vivo

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

The role of the high-density lipoprotein receptor SR-BI in the lipid metabolism of endocrine and other tissues

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Identification of the N-linked glycosylation sites on the high density lipoprotein (HDL) receptor SR-BI and assessment of their effects on HDL binding and selective lipid uptake

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Relationship between expression levels and atherogenesis in scavenger receptor class B, type I transgenics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Influence of the high density lipoprotein receptor SR-BI on reproductive and cardiovascular pathophysiology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Lower plasma levels and accelerated clearance of high density lipoprotein (HDL) and non-HDL cholesterol in scavenger receptor class B type I transgenic mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Targeted mutation reveals a central role for SR-BI in hepatic selective uptake of high density lipoprotein cholesterol

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease

3 June 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Overexpression of the HDL receptor SR-BI alters plasma HDL and bile cholesterol levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Scavenger receptor class B type I mediates the selective uptake of high-density lipoprotein-associated cholesteryl ester by the liver in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Gene transfer and hepatic overexpression of the HDL receptor SR-BI reduces atherosclerosis in the cholesterol-fed LDL receptor-deficient mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Differential effects of scavenger receptor BI deficiency on lipid metabolism in cells of the arterial wall and in the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Loss of SR-BI expression leads to the early onset of occlusive atherosclerotic coronary artery disease, spontaneous myocardial infarctions, severe cardiac dysfunction, and premature death in apolipoprotein E-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Lipoprotein cholesteryl ester production, transfer, and output in vivo in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Template-based protein structure modeling using the RaptorX web server.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Protein 8-class secondary structure prediction using conditional neural fields

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

AAV vectors expressing LDLR gain-of-function variants demonstrate increased efficacy in mouse models of familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Biodistribution of AAV8 vectors expressing human low-density lipoprotein receptor in a mouse model of homozygous familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Adeno-associated virus serotype 8 gene therapy leads to significant lowering of plasma cholesterol levels in humanized mouse models of homozygous and heterozygous familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Complete prevention of atherosclerosis in apoE-deficient mice by hepatic human apoE gene transfer with adeno-associated virus serotypes 7 and 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Prolonged correction of hyperlipidemia in mice with familial hypercholesterolemia using an adeno-associated viral vector expressing very-low-density lipoprotein receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Comparison of class B scavenger receptors, CD36 and scavenger receptor BI (SR-BI), shows that both receptors mediate high density lipoprotein-cholesteryl ester selective uptake but SR-BI exhibits a unique enhancement of cholesteryl ester uptake

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Negatively cooperative binding of high-density lipoprotein to the HDL receptor SR-BI

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Acute inflammation increases selective uptake of HDL cholesteryl esters into adrenals of mice overexpressing human sPLA2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Carotid intima-media thickness and presence or absence of plaque improves prediction of coronary heart disease risk: the ARIC (Atherosclerosis Risk In Communities) study

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Use of carotid ultrasound to identify subclinical vascular disease and evaluate cardiovascular disease risk: a consensus statement from the American Society of Echocardiography Carotid Intima-Media Thickness Task Force. Endorsed by the Society for V

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Small, dense high-density lipoprotein-3 particles are enriched in negatively charged phospholipids: relevance to cellular cholesterol efflux, antioxidative, antithrombotic, anti-inflammatory, and antiapoptotic functionalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Meta-analysis of gene-level tests for rare variant association

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

HDL scavenger receptor class B type I and platelet function

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Thrombocytopenia and platelet abnormalities in high-density lipoprotein receptor-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Scavenger receptor BI modulates platelet reactivity and thrombosis in dyslipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

SR-BI and cholesterol uptake into steroidogenic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAD3517

Influence of plasma cholesteryl ester transfer activity on the LDL and HDL distribution profiles in normolipidemic subjects.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4889017

Liver-specific overexpression of scavenger receptor BI decreases levels of very low density lipoprotein ApoB, low density lipoprotein ApoB, and high density lipoprotein in transgenic mice

26 November 2018

1 reference

12 December 2020

Decreased atherosclerosis in heterozygous low density lipoprotein receptor-deficient mice expressing the scavenger receptor BI transgene

1 reference

12 December 2020

Genetic variant of the scavenger receptor BI in humans

1 reference

12 December 2020

LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54,500 individuals

1 reference

12 December 2020

The not-so-simple HDL story: Is it time to revise the HDL cholesterol hypothesis?

1 reference

12 December 2020

Increased LDL cholesterol and atherosclerosis in LDL receptor-deficient mice with attenuated expression of scavenger receptor B1

1 reference

12 December 2020