Results 41 to 50 of about 40,773 (330)

Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
The increase in size of publicly available variant annotation and Mendelian disease databases have allowed for novel approaches to identify the likely direction of effect of genetic mutations. Specifically, we found a simple ratio of missense mutations is capable of identifying genes likely to cause disease through a gain‐of‐function mechanism ...
Andrew K. Ressler, David B. Goldstein
wiley   +1 more source

PCSK9 induces a pro-inflammatory response in macrophages [PDF]

, 2018
Intraplaque release of inflammatory cytokines from macrophages is implicated in atherogenesis by inducing the proliferation and migration of media smooth muscle cells (SMCs). PCSK9 is present and released by SMCs within the atherosclerotic plaque but its
Adorni, Maria Pia, Camera, Marina, Cicero, Arrigo F G, Colciago, Alessandra, Corsini, Alberto, Ferri, Nicola, Fogacci, Federica, LUPO, MARIA GIOVANNA, Macchi, Chiara, Ricci, Chiara, Rossetti, Laura, Ruscica, Massimiliano, Zanotti, Ilaria   +12 more
core   +3 more sources

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject [PDF]

, 2023
Familial hypercholesterolaemia (FH) is an autosomal dominant dyslipidaemia, characterised by elevated LDL cholesterol (LDL-C) levels in the blood. Three main genes are involved in FH diagnosis: LDL receptor (LDLr), Apolipoprotein B (APOB) and Protein ...
Benito Vicente, Asier, Bertolini, Stefano, Bonelli, Efrem, Calandra, Sebastiano, Fasano, Tommaso, Jebari-Benslaiman, Shifa, Larrea Sebal, Asier, Martín Plágaro, César Augusto, Negri, Emanuele A., Trenti, Chiara, Uraga Gracianteparaluceta, Leire   +10 more
core   +2 more sources

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

New England Journal of Medicine, 2006
BACKGROUND A low plasma level of low-density lipoprotein (LDL) cholesterol is associated with reduced risk of coronary heart disease (CHD), but the effect of lifelong reductions in plasma LDL cholesterol is not known.
Jonathan C. Cohen, E. Boerwinkle, T. Mosley, H. Hobbs   +3 more
semanticscholar   +1 more source

PCSK9 inhibitors and ezetimibe with or without statin therapy for cardiovascular risk reduction: a systematic review and network meta-analysis

British medical journal, 2022
Objective To compare the impact of ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors on cardiovascular outcomes in adults taking maximally tolerated statin therapy or who are statin intolerant.
Safi U. Khan, Siva H. Yedlapati, Ahmad N. Lone, Q. Hao, G. Guyatt, N. Delvaux, G. Bekkering, P. Vandvik, I. Riaz, Sheyu Li, B. Aertgeerts, N. Rodondi   +11 more
semanticscholar   +1 more source

Unpacking and understanding the impact of proprotein convertase subtilisin/kexin type 9 inhibitors on apolipoprotein B metabolism [PDF]

, 2017
No abstract ...
Packard, Chris J.
core   +1 more source

A case‐study of model‐informed drug development of a novel PCSK9 anti sense oligonucleotide. Part 1: First time in man to phase II

CPT: Pharmacometrics &Systems Pharmacology, Volume 11, Issue 12, Page 1569-1577, December 2022., 2022
Abstract Here, we show model‐informed drug development (MIDD) of a novel antisense oligonucleotide, targeting PCSK9 for treatment of hypocholesteremia. The case study exemplifies use of MIDD to analyze emerging data from an ongoing first‐in‐human study, utility of the US Food and Drug Administration MIDD pilot program to accelerate timelines ...
Jane Knöchel, Catarina Nilsson, Björn Carlsson, Linda Wernevik, Alexis Hofherr, Peter Gennemark, Rasmus Jansson‐Löfmark, Rikard Isaksson, Tina Rydén‐Bergsten, Bengt Hamrén, Dinko Rekić   +10 more
wiley   +1 more source

PCSK9 Plasma Levels Are Associated with Mechanical Vascular Impairment in Familial Hypercholesterolemia Subjects without a History of Atherosclerotic Cardiovascular Disease: Results of Six-Month Add-On PCSK9 Inhibitor Therapy

Biomolecules, 2022
Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a key regulator of low-density lipoprotein (LDL) metabolism involved in the degradation of the low-density lipoprotein receptor (LDLR) through complex mechanisms.
Arianna Toscano, Maria Cinquegrani, Michele Scuruchi, Antonino Di Pino, Salvatore Piro, Viviana Ferrara, Carmela Morace, Alberto Lo Gullo, Egidio Imbalzano, Francesco Purrello, Giovanni Squadrito, Roberto Scicali, Giuseppe Mandraffino   +12 more
doaj   +1 more source

Suppressor of Cytokine Signaling-3 (SOCS-3) induces Proprotein Convertase Subtilisin Kexin Type 9 (PCSK9) expression in hepatic HepG2 cell line [PDF]

, 2015
The suppressor of cytokine signaling (SOCS) proteins are negative regulators of the JAK/STAT pathway activated by proinflammatory cytokines, including the tumor necrosis factor (TNF-\u3b1).
Corsini, Alberto, Cristofani, Riccardo, Ferri, Nicola, Liu, Jingwen, Macchi, Chiara, Magni, Paolo, Ricci, Chiara, Ruscica, Massimiliano   +7 more
core   +2 more sources

Advantages and Disadvantages of Inclisiran: A Small Interfering Ribonucleic Acid Molecule Targeting PCSK9—A Narrative Review

Cardiovascular Therapeutics, 2022
As dyslipidemias remain one of the main risk factors for developing cardiovascular disease, the question of maintaining optimal lipid levels with pharmacotherapy remains a subject of interest worldwide.
I. Merćep, Nikolina Friščić, Dominik Strikić, Ž. Reiner   +3 more
semanticscholar   +1 more source