Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.E129*
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ANGPTL3

NM_014495.4:p.E129*

Associated Papers

The role of protective genetic variants in modulating epigenetic aging.

Bejaoui Y et al.

Geroscience, 2025

Drug development advances in human genetics-based targets.

Zhang X et al.

Medcomm, 2024

Angiopoietin-like 3: An important protein in regulating lipoprotein levels.

Burks KH et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2023

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

Genetics and regulation of HDL metabolism.

Kardassis D et al.

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

Targeting angiopoietin-like 3 in atherosclerosis: From bench to bedside.

Ling P et al.

Diabetes, Obesity & Metabolism, 2021

ANGPLT3 in cardio-metabolic disorders.

Su X

Molecular Biology Reports, 2021

Low cholesterol syndrome and drug development.

Handhle A et al.

Current Opinion in Cardiology, 2020

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.

Welty FK

Current Opinion in Lipidology, 2020

Angiopoietin-Like 3: From Discovery to Therapeutic Gene Editing.

Wang X et al.

Jacc. Basic to Translational Science, 2019

Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia.

Tarugi P et al.

Journal of Biomedical Research, 2019

Metabolomic Signature of Angiopoietin-Like Protein 3 Deficiency in Fasting and Postprandial State.

Tikkanen E et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

New insights into ANGPLT3 in controlling lipoprotein metabolism and risk of cardiovascular diseases.

Su X et al.

Lipids in Health and Disease, 2018

Angiopoietin-like 3 in lipoprotein metabolism.

Kersten S

Nature Reviews. Endocrinology, 2017

ANGPLT3: A novel modulator of lipid metabolism.

Hassan M

Global Cardiology Science & Practice, 2017

Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.

Noto D et al.

Acta Diabetologica, 2017

The role of ANGPTL3 in controlling lipoprotein metabolism.

Tikka A et al.

Endocrine, 2016

What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Jeff JM et al.

Current Opinion in Lipidology, 2016

Novel therapies for severe dyslipidemia originating from human genetics.

Gaudet D

Current Opinion in Lipidology, 2016

Update on the molecular biology of dyslipidemias.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Insights from exome sequencing for endocrine disorders.

de Bruin C et al.

Nature Reviews. Endocrinology, 2015

Exome sequencing: new insights into lipoprotein disorders.

Farhan SM et al.

Current Cardiology Reports, 2014

Hypobetalipoproteinemia and abetalipoproteinemia.

Welty FK

Current Opinion in Lipidology, 2014

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.

Minicocci I et al.

Journal of Lipid Research, 2013

The angiopoietin-like protein 3: a hepatokine with expanding role in metabolism.

Arca M et al.

Current Opinion in Lipidology, 2013

Recent developments in the genetics of LDL deficiency.

Hooper AJ et al.

Current Opinion in Lipidology, 2013

Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

Minicocci I et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Allelic and phenotypic spectrum of plasma triglycerides.

Johansen CT et al.

Biochimica Et Biophysica Acta, 2012

Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.

Martín-Campos JM et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

Noto D et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2012

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

Pisciotta L et al.

Circulation. Cardiovascular Genetics, 2012

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

Musunuru K et al.

The New England Journal of Medicine, 2010

[Making good use of exome sequencing].

Jordan B

Medecine Sciences : M/s, 2010

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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."