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Promoter variant -204A > C of the cholesterol 7α-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells.
De Castro-Orós I, Pampín S, Cofán M, Mozas P, Pintó X, Salas-Salvadó J, Rodríguez-Rey JC, Ros E, Civeira F, Pocoví M. De Castro-Orós I, et al. Among authors: pocovi m. Clin Nutr. 2011 Apr;30(2):239-46. doi: 10.1016/j.clnu.2010.07.020. Epub 2010 Sep 29. Clin Nutr. 2011. PMID: 20884100 Clinical Trial.
A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
De Castro-Orós I, Pérez-López J, Mateo-Gallego R, Rebollar S, Ledesma M, León M, Cofán M, Casasnovas JA, Ros E, Rodríguez-Rey JC, Civeira F, Pocoví M. De Castro-Orós I, et al. Among authors: pocovi m. BMC Med Genomics. 2014 Apr 7;7:17. doi: 10.1186/1755-8794-7-17. BMC Med Genomics. 2014. PMID: 24708769 Free PMC article.
Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.
De Castro-Orós I, Civeira F, Pueyo MJ, Mateo-Gallego R, Bolado-Carrancio A, Lamíquiz-Moneo I, Álvarez-Sala L, Fabiani F, Cofán M, Cenarro A, Rodríguez-Rey JC, Ros E, Pocoví M. De Castro-Orós I, et al. Among authors: pocovi m. J Clin Lipidol. 2016 Jul-Aug;10(4):790-797. doi: 10.1016/j.jacl.2016.02.010. Epub 2016 Feb 23. J Clin Lipidol. 2016. PMID: 27578109
ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.
Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Marco-Benedí V, Martín-Navarro A, Ros E, Cofán M, Rodríguez-Rey JC, Pocovi M, Cenarro A, Civeira F. Lamiquiz-Moneo I, et al. Among authors: pocovi m. J Clin Lipidol. 2017 Nov-Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4. J Clin Lipidol. 2017. PMID: 29066094
168 results