Publications:

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PNPLA3 rs738409 risk genotype decouples TyG index from HOMA2-IR and intrahepatic lipid content.

Cardiovascular Diabetology

Nádasdi, Ákos Á; Gál, Viktor V; Masszi, Tamás T; Somogyi, Anikó A; Firneisz, Gábor G

Publication Date: 2023-03-21

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 36944955

Variant Present in the following documents:

• Main text
• 12933_2023_Article_1792.pdf

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: PNPLA3: I148I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

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Platelets in Non-alcoholic Fatty Liver Disease.

Frontiers In Pharmacology

Dalbeni, Andrea A; Castelli, Marco M; Zoncapè, Mirko M; Minuz, Pietro P; Sacerdoti, David D

Publication Date: 2022

Variant appearance in text: PNPLA3: I148I

PubMed Link: 35250588

Variant Present in the following documents:

• Main text
• fphar-13-842636.pdf

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PNPLA3, TM6SF2, and MBOAT7 Influence on Nutraceutical Therapy Response for Non-alcoholic Fatty Liver Disease: A Randomized Controlled Trial.

Frontiers In Medicine

Dallio, Marcello M; Masarone, Mario M; Romeo, Mario M; Tuccillo, Concetta C; Morisco, Filomena F; Persico, Marcello M; Loguercio, Carmelina C; Federico, Alessandro A

Publication Date: 2021

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 34692725

Variant Present in the following documents:

• Main text
• fmed-08-734847.pdf

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HDL-Mediated Cholesterol Efflux and Plasma Loading Capacities Are Altered in Subjects with Metabolically- but Not Genetically Driven Non-Alcoholic Fatty Liver Disease (NAFLD).

Biomedicines

Di Costanzo, Alessia A; Ronca, Annalisa A; D'Erasmo, Laura L; Manfredini, Matteo M; Baratta, Francesco F; Pastori, Daniele D; Di Martino, Michele M; Ceci, Fabrizio F; Angelico, Francesco F; Del Ben, Maria M; Pavanello, Chiara C; Turri, Marta M; Calabresi, Laura L; Favari, Elda E; Arca, Marcello M

Publication Date: 2020-12-18

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 33352841

Variant Present in the following documents:

• Main text
• biomedicines-08-00625.pdf

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Causal relationships between NAFLD, T2D and obesity have implications for disease subphenotyping.

Journal Of Hepatology

Liu, Zhipeng Z; Zhang, Yang Y; Graham, Sarah S; Wang, Xiaokun X; Cai, Defeng D; Huang, Menghao M; Pique-Regi, Roger R; Dong, Xiaocheng Charlie XC; Chen, Y Eugene YE; Willer, Cristen C; Liu, Wanqing W

Publication Date: 2020-08

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 32165250

Variant Present in the following documents:

• Main text

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PNPLA3 I148M mediates the regulatory effect of NF-kB on inflammation in PA-treated HepG2 cells.

Journal Of Cellular And Molecular Medicine

Yuan, Shuhua S; Liu, Hongxia H; Yuan, Ding D; Xu, Jing J; Chen, Yunzhi Y; Xu, Xiao X; Xu, Fen F; Liang, Hua H

Publication Date: 2020-01

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 31793207

Variant Present in the following documents:

• Main text
• JCMM-24-1541.pdf

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Genetic and metabolic predictors of hepatic fat content in a cohort of Italian children with obesity.

Pediatric Research

Di Costanzo, Alessia A; Pacifico, Lucia L; Chiesa, Claudio C; Perla, Francesco Massimo FM; Ceci, Fabrizio F; Angeloni, Antonio A; D'Erasmo, Laura L; Di Martino, Michele M; Arca, Marcello M

Publication Date: 2019-04

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 30710115

Variant Present in the following documents:

• 41390_2019_Article_303.pdf

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Dissociation of Fatty Liver and Insulin Resistance in I148M PNPLA3 Carriers: Differences in Diacylglycerol (DAG) FA18:1 Lipid Species as a Possible Explanation.

Nutrients

Franko, Andras A; Merkel, Dietrich D; Kovarova, Marketa M; Hoene, Miriam M; Jaghutriz, Benjamin A BA; Heni, Martin M; Königsrainer, Alfred A; Papan, Cyrus C; Lehr, Stefan S; Häring, Hans-Ulrich HU; Peter, Andreas A

Publication Date: 2018-09-17

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 30227635

Variant Present in the following documents:

• Main text

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PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease.

Nutrients

Tortora, Raffaella R; Rispo, Antonio A; Alisi, Anna A; Imperatore, Nicola N; Crudele, Annalisa A; Ferretti, Francesca F; Nobili, Valerio V; Miele, Luca L; Gerbino, Nicolò N; Caporaso, Nicola N; Morisco, Filomena F

Publication Date: 2018-09-05

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 30189691

Variant Present in the following documents:

• Main text
• nutrients-10-01239.pdf

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PNPLA3 overexpression results in reduction of proteins predisposing to fibrosis.

Human Molecular Genetics

Pingitore, Piero P; Dongiovanni, Paola P; Motta, Benedetta Maria BM; Meroni, Marica M; Lepore, Saverio Massimo SM; Mancina, Rosellina Margherita RM; Pelusi, Serena S; Russo, Cristina C; Caddeo, Andrea A; Rossi, Giorgio G; Montalcini, Tiziana T; Pujia, Arturo A; Wiklund, Olov O; Valenti, Luca L; Romeo, Stefano S

Publication Date: 2016-12-01

Variant appearance in text: PNPLA3: I148I; rs738409

PubMed Link: 27742777

Variant Present in the following documents:

• Main text
• ddw341.pdf

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Serum TAG analysis differentiates between genetic and obesity-associated NAFLD.

Diabetes

Mashek, Douglas G DG; Greenberg, Andrew S AS

Publication Date: 2014-01

Variant appearance in text: PNPLA3: I148I

PubMed Link: 24357693

Variant Present in the following documents:

• Main text
• 42.pdf

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