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The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.
Sánchez-Hernández RM, Di Taranto MD, Benito-Vicente A, Uribe KB, Lamiquiz-Moneo I, Larrea-Sebal A, Jebari S, Galicia-Garcia U, Nóvoa FJ, Boronat M, Wägner AM, Civeira F, Martín C, Fortunato G. Sánchez-Hernández RM, et al. Atherosclerosis. 2019 Oct;289:162-172. doi: 10.1016/j.atherosclerosis.2019.08.020. Epub 2019 Aug 30. Atherosclerosis. 2019. PMID: 31518966
Autosomal recessive hypercholesterolemia in Spain.
Sánchez-Hernández RM, Prieto-Matos P, Civeira F, Lafuente EE, Vargas MF, Real JT, Goicoechea FG, Fuentes FJ, Pocovi M, Boronat M, Wägner AM, Masana L. Sánchez-Hernández RM, et al. Atherosclerosis. 2018 Feb;269:1-5. doi: 10.1016/j.atherosclerosis.2017.12.006. Epub 2017 Dec 6. Atherosclerosis. 2018. PMID: 29245109
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.
Benito-Vicente A, Uribe KB, Larrea-Sebal A, Palacios L, Cenarro A, Calle X, Galicia-Garcia U, Jebari-Benslaiman S, Sánchez-Hernández RM, Stef M, Lambert G, Civeira F, Martín C. Benito-Vicente A, et al. Among authors: sanchez hernandez rm. Arterioscler Thromb Vasc Biol. 2022 Jul;42(7):e203-e216. doi: 10.1161/ATVBAHA.122.315499. Epub 2022 May 5. Arterioscler Thromb Vasc Biol. 2022. PMID: 35510551
The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.
Sánchez-Hernández RM, Tugores A, Nóvoa FJ, Brito-Casillas Y, Expósito-Montesdeoca AB, Garay P, Bea AM, Riaño M, Pocovi M, Civeira F, Wägner AM, Boronat M. Sánchez-Hernández RM, et al. J Clin Lipidol. 2019 Jul-Aug;13(4):618-626. doi: 10.1016/j.jacl.2019.04.099. Epub 2019 May 8. J Clin Lipidol. 2019. PMID: 31153816
Effect of lipid-lowering treatment in cardiovascular disease prevalence in familial hypercholesterolemia.
Perez-Calahorra S, Laclaustra M, Marco-Benedí V, Lamiquiz-Moneo I, Pedro-Botet J, Plana N, Sanchez-Hernandez RM, Amor AJ, Almagro F, Fuentes F, Suarez-Tembra M, Civeira F; Dyslipemia Registry of Spanish Arteriosclerosis Society. Perez-Calahorra S, et al. Atherosclerosis. 2019 May;284:245-252. doi: 10.1016/j.atherosclerosis.2019.02.003. Epub 2019 Feb 12. Atherosclerosis. 2019. PMID: 30827715 Free article.
60 results