TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models.

doi:10.1016/j.jcmgh.2021.11.007

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Article

TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models.

Cellular and molecular gastroenterology and hepatology - 1 Jan 2022

Longo Miriam, Meroni Marica, Paolini Erika, Erconi Veronica, Carli Fabrizia, Fortunato Francesco, Ronchi Dario, Piciotti Roberto, Sabatini Silvia, Macchi Chiara, Alisi Anna, Miele Luca, Soardo Giorgio, Comi Giacomo Pietro, Valenti Luca, Ruscica Massimiliano, Fracanzani Anna L, Gastaldelli Amalia, Dongiovanni Paola

Abstract excerpt

BACKGROUND & AIMS: The I148M Patatin-like Phospholipase Domain-containing 3 (PNPLA3), the rs641738 in the Membrane bound O-acyltransferase domain containing 7-transmembrane channel-like 4 (MBOAT7-TMC4) locus, and the E167K Transmembrane 6 Superfamily Member 2 (TM6SF2) polymorphisms represent the main predisposing factors to nonalcoholic fatty liver disease (NAFLD) development and progression. We previously...

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PMID: 34823063
DOI: 10.1016/j.jcmgh.2021.11.007
PMCID: PMC8783129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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