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Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro.
Pirazzi C, Adiels M, Burza MA, Mancina RM, Levin M, Ståhlman M, Taskinen MR, Orho-Melander M, Perman J, Pujia A, Andersson L, Maglio C, Montalcini T, Wiklund O, Borén J, Romeo S. Pirazzi C, et al. Among authors: mancina rm. J Hepatol. 2012 Dec;57(6):1276-82. doi: 10.1016/j.jhep.2012.07.030. Epub 2012 Aug 6. J Hepatol. 2012. PMID: 22878467
PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individuals.
Burza MA, Pirazzi C, Maglio C, Sjöholm K, Mancina RM, Svensson PA, Jacobson P, Adiels M, Baroni MG, Borén J, Ginanni Corradini S, Montalcini T, Sjöström L, Carlsson LM, Romeo S. Burza MA, et al. Among authors: mancina rm. Dig Liver Dis. 2012 Dec;44(12):1037-41. doi: 10.1016/j.dld.2012.05.006. Epub 2012 Jun 15. Dig Liver Dis. 2012. PMID: 22704398 Clinical Trial.
The IRS1 rs2943641 variant and risk of future cancer among morbidly obese individuals.
Maglio C, Ericson U, Burza MA, Mancina RM, Pirazzi C, Assarsson JA, Sjöholm K, Baroni MG, Svensson PA, Montalcini T, Pujia A, Sjöström L, Wiklund O, Carlsson LM, Borén J, Orho-Melander M, Romeo S. Maglio C, et al. Among authors: mancina rm. J Clin Endocrinol Metab. 2013 Apr;98(4):E785-9. doi: 10.1210/jc.2012-2831. Epub 2013 Feb 15. J Clin Endocrinol Metab. 2013. PMID: 23418314
PNPLA3 I148M polymorphism and progressive liver disease.
Dongiovanni P, Donati B, Fares R, Lombardi R, Mancina RM, Romeo S, Valenti L. Dongiovanni P, et al. Among authors: mancina rm. World J Gastroenterol. 2013 Nov 7;19(41):6969-78. doi: 10.3748/wjg.v19.i41.6969. World J Gastroenterol. 2013. PMID: 24222941 Free PMC article. Review.
PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells.
Pirazzi C, Valenti L, Motta BM, Pingitore P, Hedfalk K, Mancina RM, Burza MA, Indiveri C, Ferro Y, Montalcini T, Maglio C, Dongiovanni P, Fargion S, Rametta R, Pujia A, Andersson L, Ghosal S, Levin M, Wiklund O, Iacovino M, Borén J, Romeo S. Pirazzi C, et al. Among authors: mancina rm. Hum Mol Genet. 2014 Aug 1;23(15):4077-85. doi: 10.1093/hmg/ddu121. Epub 2014 Mar 25. Hum Mol Genet. 2014. PMID: 24670599 Free PMC article.
Transmembrane 6 superfamily member 2 gene E167K variant impacts on steatosis and liver damage in chronic hepatitis C patients.
Milano M, Aghemo A, Mancina RM, Fischer J, Dongiovanni P, De Nicola S, Fracanzani AL, D'Ambrosio R, Maggioni M, De Francesco R, Fargion S, Berg T, Stickel F, Hampe J, Romeo S, Colombo M, Valenti L. Milano M, et al. Among authors: mancina rm. Hepatology. 2015 Jul;62(1):111-7. doi: 10.1002/hep.27811. Epub 2015 May 6. Hepatology. 2015. PMID: 25820484
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