Benito-Vicente A - Search Results

1

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

2

Functional characterization and classification of frequent low-density lipoprotein receptor variants.

Etxebarria A, Benito-Vicente A, Palacios L, Stef M, Cenarro A, Civeira F, Ostolaza H, Martin C. Etxebarria A, et al. Hum Mutat. 2015 Jan;36(1):129-41. doi: 10.1002/humu.22721. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25378237

3

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.

Etxebarria A, Benito-Vicente A, Alves AC, Ostolaza H, Bourbon M, Martin C. Etxebarria A, et al. PLoS One. 2014 Nov 11;9(11):e112677. doi: 10.1371/journal.pone.0112677. eCollection 2014. PLoS One. 2014. PMID: 25386756 Free PMC article.

4

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

Etxebarria A, Benito-Vicente A, Stef M, Ostolaza H, Palacios L, Martin C. Etxebarria A, et al. Atherosclerosis. 2015 Feb;238(2):304-12. doi: 10.1016/j.atherosclerosis.2014.12.026. Epub 2014 Dec 20. Atherosclerosis. 2015. PMID: 25545329

5

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Benito-Vicente A, Alves AC, Etxebarria A, Medeiros AM, Martin C, Bourbon M. Benito-Vicente A, et al. Genet Med. 2015 Dec;17(12):980-8. doi: 10.1038/gim.2015.14. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741862 Free article.

6

Characterization of the first PCSK9 gain of function homozygote.

Alves AC, Etxebarria A, Medeiros AM, Benito-Vicente A, Thedrez A, Passard M, Croyal M, Martin C, Lambert G, Bourbon M. Alves AC, et al. J Am Coll Cardiol. 2015 Nov 10;66(19):2152-2154. doi: 10.1016/j.jacc.2015.08.871. J Am Coll Cardiol. 2015. PMID: 26541928 Free article. No abstract available.

7

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Fernández-Higuero JA, Etxebarria A, Benito-Vicente A, Alves AC, Arrondo JL, Ostolaza H, Bourbon M, Martin C. Fernández-Higuero JA, et al. Sci Rep. 2015 Dec 8;5:18184. doi: 10.1038/srep18184. Sci Rep. 2015. PMID: 26643808 Free PMC article.

8

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.

Cenarro A, Etxebarria A, de Castro-Orós I, Stef M, Bea AM, Palacios L, Mateo-Gallego R, Benito-Vicente A, Ostolaza H, Tejedor T, Martín C, Civeira F. Cenarro A, et al. J Clin Endocrinol Metab. 2016 May;101(5):2113-21. doi: 10.1210/jc.2015-3874. Epub 2016 Mar 25. J Clin Endocrinol Metab. 2016. PMID: 27014949

9

Structural changes induced by acidic pH in human apolipoprotein B-100.

Fernández-Higuero JA, Benito-Vicente A, Etxebarria A, Milicua JC, Ostolaza H, Arrondo JL, Martín C. Fernández-Higuero JA, et al. Sci Rep. 2016 Nov 8;6:36324. doi: 10.1038/srep36324. Sci Rep. 2016. PMID: 27824107 Free PMC article.

10

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Jiang L, Wu WF, Sun LY, Chen PP, Wang W, Benito-Vicente A, Zhang F, Pan XD, Cui W, Yang SW, Zhou YJ, Martin C, Wang LY. Jiang L, et al. Sci Rep. 2016 Nov 10;6:36823. doi: 10.1038/srep36823. Sci Rep. 2016. PMID: 27830735 Free PMC article.

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