Valenti V - Search Results

1

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.

Fasano T, Cefalù AB, Di Leo E, Noto D, Pollaccia D, Bocchi L, Valenti V, Bonardi R, Guardamagna O, Averna M, Tarugi P. Fasano T, et al. Among authors: valenti v. Arterioscler Thromb Vasc Biol. 2007 Mar;27(3):677-81. doi: 10.1161/01.ATV.0000255311.26383.2f. Epub 2006 Dec 14. Arterioscler Thromb Vasc Biol. 2007. PMID: 17170371

2

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

Noto D, Cefalù AB, Valenti V, Fayer F, Pinotti E, Ditta M, Spina R, Vigna G, Yue P, Kathiresan S, Tarugi P, Averna MR. Noto D, et al. Among authors: valenti v. Arterioscler Thromb Vasc Biol. 2012 Mar;32(3):805-9. doi: 10.1161/ATVBAHA.111.238766. Epub 2012 Jan 12. Arterioscler Thromb Vasc Biol. 2012. PMID: 22247256

3

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.

Cefalù AB, Pirruccello JP, Noto D, Gabriel S, Valenti V, Gupta N, Spina R, Tarugi P, Kathiresan S, Averna MR. Cefalù AB, et al. Among authors: valenti v. Arterioscler Thromb Vasc Biol. 2013 Aug;33(8):2021-5. doi: 10.1161/ATVBAHA.112.301101. Epub 2013 May 30. Arterioscler Thromb Vasc Biol. 2013. PMID: 23723369 Free PMC article.

4

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia.

Cefalù AB, Spina R, Noto D, Valenti V, Ingrassia V, Giammanco A, Panno MD, Ganci A, Barbagallo CM, Averna MR. Cefalù AB, et al. Among authors: valenti v. Arterioscler Thromb Vasc Biol. 2015 Dec;35(12):2694-9. doi: 10.1161/ATVBAHA.115.306170. Epub 2015 Oct 1. Arterioscler Thromb Vasc Biol. 2015. PMID: 26427795

5

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.

Cefalù AB, Norata GD, Ghiglioni DG, Noto D, Uboldi P, Garlaschelli K, Baragetti A, Spina R, Valenti V, Pederiva C, Riva E, Terracciano L, Zoja A, Grigore L, Averna MR, Catapano AL. Cefalù AB, et al. Among authors: valenti v. Atherosclerosis. 2015 Mar;239(1):209-17. doi: 10.1016/j.atherosclerosis.2015.01.014. Epub 2015 Jan 19. Atherosclerosis. 2015. PMID: 25618028 Review.

6

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.

Cefalù AB, Barraco G, Noto D, Valenti V, Barbagallo CM, Elisir GD, Cuniberti LA, Werba JP, Libra M, Costa S, Gianguzza F, Notarbartolo A, Travali S, Averna MR. Cefalù AB, et al. Among authors: valenti v. Int J Mol Med. 2006 Mar;17(3):539-46. Int J Mol Med. 2006. PMID: 16465405

7

PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study.

Valenti V, Noto D, Giammanco A, Fayer F, Spina R, Altieri GI, Ingrassia V, Scrimali C, Barbagallo CM, Brucato F, Misiano G, Cefalù AB, Averna MR. Valenti V, et al. Atherosclerosis. 2020 Jan;292:209-214. doi: 10.1016/j.atherosclerosis.2019.09.009. Epub 2019 Sep 24. Atherosclerosis. 2020. PMID: 31564372

8

A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.

Lupo I, Cefalu AB, Bongiorno MR, Daniele O, Valenti V, Noto D, Camarda R, Savettieri G, Aricò M, Averna MR. Lupo I, et al. Among authors: valenti v. Br J Dermatol. 2005 Nov;153(5):1019-22. doi: 10.1111/j.1365-2133.2005.06842.x. Br J Dermatol. 2005. PMID: 16225617

9

Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.

Noto D, Cefalù AB, Cannizzaro A, Minà M, Fayer F, Valenti V, Barbagallo CM, Tuttolomondo A, Pinto A, Sciumè C, Licata G, Averna M. Noto D, et al. Among authors: valenti v. Atherosclerosis. 2009 Sep;206(1):193-8. doi: 10.1016/j.atherosclerosis.2009.01.037. Epub 2009 Feb 2. Atherosclerosis. 2009. PMID: 19344897

10

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

Cefalù AB, Spina R, Noto D, Ingrassia V, Valenti V, Giammanco A, Fayer F, Misiano G, Cocorullo G, Scrimali C, Palesano O, Altieri GI, Ganci A, Barbagallo CM, Averna MR. Cefalù AB, et al. Among authors: valenti v. J Clin Lipidol. 2017 Jan-Feb;11(1):272-281.e8. doi: 10.1016/j.jacl.2017.01.003. Epub 2017 Jan 11. J Clin Lipidol. 2017. PMID: 28391895

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