Varaico: Literature-Extracted Genetic Variants

Gene:SCARB1
Variant:p.P297S
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SCARB1

NM_005505.5:p.P297S

Associated Papers

AI-guided identification of risk variants for adrenocortical tumours in TP53 p.R337H carrier children: a genetic association study.

Figueiredo BC et al.

Lancet Regional Health. Americas, 2024

Zebrafish as outgroup model to study evolution of scavenger receptor class B type I functions.

Verwilligen RAF et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2023

SR-B1's Next Top Model: Structural Perspectives on the Functions of the HDL Receptor.

Powers HR et al.

Current Atherosclerosis Reports, 2022

Genetics and regulation of HDL metabolism.

Kardassis D et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022

Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Rozhkova AV et al.

Journal of Cardiovascular Development and Disease, 2021

SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies.

Gracia-Rubio I et al.

Biomedicines, 2021

Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions.

May SC et al.

Journal of Lipid Research, 2021

Lipoprotein receptor signalling in atherosclerosis.

Mineo C

Cardiovascular Research, 2020

Rare P376L variant in the SR-BI gene associates with HDL dysfunction and risk of cardiovascular disease.

Samadi S et al.

Clinical Biochemistry, 2019

CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels.

Lee CJ et al.

Scientific Reports, 2019

Association of Endonuclease G Gene Variants with Cardiovascular Disease Risk Factors.

Etehad Roodi N et al.

Reports of Biochemistry & Molecular Biology, 2019

Proline residues in scavenger receptor-BI's C-terminal region support efficient cholesterol transport.

Proudfoot SC et al.

The Biochemical Journal, 2019

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

Helgadottir A et al.

European Heart Journal, 2018

HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology.

Rosenson RS et al.

Nature Reviews. Cardiology, 2018

HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics.

Vitali C et al.

Current Cardiology Reports, 2017

Single amino acid mutation of SR-BI decreases infectivity of hepatitis C virus derived from cell culture in a cell culture model.

Gao R et al.

World Journal of Gastroenterology, 2017

SR-B1 and PDZK1: partners in HDL regulation.

Trigatti BL

Current Opinion in Lipidology, 2017

Rare Genetic Variants and High-Density Lipoprotein: Marching to a Different Drum.

Trigatti BL et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2016

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

Zanoni P et al.

Science (new York, N.y.), 2016

Lipoprotein profiles in human heterozygote carriers of a functional mutation P297S in scavenger receptor class B1.

Ljunggren SA et al.

Biochimica Et Biophysica Acta, 2015

Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study.

Niemsiri V et al.

Bmc Medical Genetics, 2015

HDL biogenesis, remodeling, and catabolism.

Zannis VI et al.

Handbook of Experimental Pharmacology, 2015

Functional genomics of the human high-density lipoprotein receptor scavenger receptor BI: an old dog with new tricks.

Chadwick AC et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2013

Genetics of cholesterol efflux.

Iatan I et al.

Current Atherosclerosis Reports, 2012

Genetic studies in mice and humans reveal new physiological roles for the high-density lipoprotein receptor scavenger receptor class B type I.

Hoekstra M et al.

Current Opinion in Lipidology, 2012

Functional characterization of newly-discovered mutations in human SR-BI.

Chadwick AC et al.

Plos One, 2012

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans.

Brunham LR et al.

Clinical Genetics, 2011

Genetic variant of the scavenger receptor BI in humans.

Vergeer M et al.

The New England Journal of Medicine, 2011

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