Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.N396S
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LIPG

NM_006033.4:p.N396S

Associated Papers

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.

Petrazzini BO et al.

Nature Genetics, 2024

Advances in Dyslipidaemia Treatments: Focusing on ApoC3 and ANGPTL3 Inhibitors.

Tomlinson B et al.

Journal of Lipid and Atherosclerosis, 2024

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT et al.

Genes, 2023

36833203 (PubMed )
Supplement: genes-14-00277-s001.zip › 09.11.22_Supplementary_tables_v9.xlsx › 3

Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.

Young KL et al.

Hgg Advances, 2023

36568030 (PubMed )
Supplement: mmc3.pdf

Genetic Mimicry Analysis Reveals the Specific Lipases Targeted by the ANGPTL3-ANGPTL8 Complex and ANGPTL4.

Landfors F et al.

Journal of Lipid Research, 2023

Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate.

Mishra A et al.

Brain : a Journal of Neurology, 2022

35511193 (PubMed )
Supplement: awab432_supplementary_data.pdf

Sphingosine-1-phosphate: metabolism, transport, atheroprotection and effect of statin treatment.

Therond P et al.

Current Opinion in Lipidology, 2022

Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels.

Sarnowski C et al.

Communications Biology, 2022

35396452 (PubMed )
Supplement: 42003_2022_3287_MOESM1_ESM.pdf

Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Martín-Campos JM

Biomedicines, 2021

34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf

Analysis of 200 000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral.

Curtis D

Psychiatric Genetics, 2021

The genetic basis of major depression.

Kendall KM et al.

Psychological Medicine, 2021

Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins.

Khetarpal SA et al.

Plos Genetics, 2021

Angiopoietin-like protein 3 governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance.

Adam RC et al.

Journal of Lipid Research, 2020

Sex differences in the genetic architecture of depression.

Kang HJ et al.

Scientific Reports, 2020

Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation.

Ohnmacht J et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2020

Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Mishra A et al.

Brain : a Journal of Neurology, 2019

30859180 (PubMed )
Supplement: awz024_supplementary_text.pdf

[Breakthrough in understanding the molecular causes of psychiatric disorders].

Nöthen MM et al.

Der Nervenarzt, 2019

Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.

Khetarpal SA et al.

Circulation. Genomic and Precision Medicine, 2018

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

Rosenson RS et al.

Nature Reviews. Cardiology, 2018

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

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

Vitali C et al.

Current Cardiology Reports, 2017

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf

Progress in Genetic Studies of Tourette's Syndrome.

Qi Y et al.

Brain Sciences, 2017

A decade of progress on the genetic basis of coronary artery disease. Practical insights for the internist.

Girelli D et al.

European Journal of Internal Medicine, 2017

Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms.

Amin N et al.

Molecular Psychiatry, 2017

Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms.

Amin N et al.

Molecular Psychiatry, 2017

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

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

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S5

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.

Helgadottir A et al.

Nature Genetics, 2016

Insights into blood lipids from rare variant discovery.

Schmidt EM et al.

Current Opinion in Genetics & Development, 2015

PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity.

Kim DS et al.

Journal of Lipid Research, 2015

Human genetics of HDL: Insight into particle metabolism and function.

Brunham LR et al.

Progress in Lipid Research, 2015

Unraveling new therapeutic targets of coronary artery disease by genetic approaches.

Lee SE et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC7_ERR166315

Association of endothelial lipase Thr111Ile polymorphism with proliferative retinopathy in type 2 diabetes patients.

Arndt C et al.

Diabetes & Metabolism, 2014

Association of cholesteryl ester transfer protein (CETP) gene polymorphism, high density lipoprotein cholesterol and risk of coronary artery disease: a meta-analysis using a Mendelian randomization approach.

Wu Z et al.

Bmc Medical Genetics, 2014

Mendelian randomization studies in coronary artery disease.

Jansen H et al.

European Heart Journal, 2014

Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.

Singaraja RR et al.

Journal of Lipid Research, 2014

Genetics of coronary artery disease.

Roberts R

Circulation Research, 2014

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Holmen OL et al.

Nature Genetics, 2014

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Peloso GM et al.

American Journal of Human Genetics, 2014

Monogenic causes of elevated HDL cholesterol and implications for development of new therapeutics.

Larach DB et al.

Clinical Lipidology, 2013

Genetics of lipid traits and relationship to coronary artery disease.

Keenan TE et al.

Current Cardiology Reports, 2013

Validating therapeutic targets through human genetics.

Plenge RM et al.

Nature Reviews. Drug Discovery, 2013

The impact of partial and complete loss-of-function mutations in endothelial lipase on high-density lipoprotein levels and functionality in humans.

Singaraja RR et al.

Circulation. Cardiovascular Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."