Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B13
Variant:p.P260S
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HSD17B13

NM_178135.5:p.P260S

Associated Papers

Design and application of synthetic 17B-HSD13 substrates reveals preserved catalytic activity of protective human variants.

Garnsey MR et al.

Nature Communications, 2025

Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.

Wang JJ et al.

Frontiers in Physiology, 2025

Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.

Sookoian S et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024

Structural basis of lipid-droplet localization of 17-beta-hydroxysteroid dehydrogenase 13.

Liu S et al.

Nature Communications, 2023

Update on genetics and epigenetics in metabolic associated fatty liver disease.

Zhu X et al.

Therapeutic Advances in Endocrinology and Metabolism, 2022

Lipid Droplet-Associated Factors, PNPLA3, TM6SF2, and HSD17B Proteins in Hepatopancreatobiliary Cancer.

Sunami Y et al.

Cancers, 2021

17-Beta Hydroxysteroid Dehydrogenase 13 Deficiency Does Not Protect Mice From Obesogenic Diet Injury.

Ma Y et al.

Hepatology (baltimore, Md.), 2021

Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk.

Dabravolski SA et al.

International Journal of Molecular Sciences, 2021

Characterization of essential domains in HSD17B13 for cellular localization and enzymatic activity.

Ma Y et al.

Journal of Lipid Research, 2020

Review article: the emerging role of genetics in precision medicine for patients with non-alcoholic steatohepatitis.

Carlsson B et al.

Alimentary Pharmacology & Therapeutics, 2020

Assessment of Genetic Aspects of Non-alcoholic Fatty Liver and Premature Cardiovascular Events.

Saki S et al.

Middle East Journal of Digestive Diseases, 2020

Novel Insights into the Genetic Landscape of Nonalcoholic Fatty Liver Disease.

Taliento AE et al.

International Journal of Environmental Research and Public Health, 2019

17-Beta Hydroxysteroid Dehydrogenase 13 Is a Hepatic Retinol Dehydrogenase Associated With Histological Features of Nonalcoholic Fatty Liver Disease.

Ma Y et al.

Hepatology (baltimore, Md.), 2019

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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."