Associated Papers
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
31653860 (PubMed )
Supplement: 41467_2019_12869_MOESM3_ESM.xlsx › Testing_Cohort_Variants
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Seidah NG et al.
Pharmacological Reviews, 2017
Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.
Abifadel M et al.
Current Atherosclerosis Reports, 2014
Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.
Ferri N
Scientifica, 2012
Proprotein convertase subtilisin/kexin type 9 (PCSK9): from structure-function relation to therapeutic inhibition.
Tibolla G et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Abifadel M et al.
Human Mutation, 2009
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.
Fasano T et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2007
Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.
Vilar-Gomez E et al.
Journal of Clinical Lipidology, 0
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