Cargando…

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement

Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL‐cholesterol and premature cardiovascular disease. We aim to perform a retrospective analysis of a genetically screened population (528 unrela...

Descripción completa

Detalles Bibliográficos
Autores principales:	Di Taranto, Maria Donata, Giacobbe, Carola, Palma, Daniela, Iannuzzo, Gabriella, Gentile, Marco, Calcaterra, Ilenia, Guardamagna, Ornella, Auricchio, Renata, Di Minno, Matteo Nicola Dario, Fortunato, Giuliana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291778/ https://www.ncbi.nlm.nih.gov/pubmed/34297352 http://dx.doi.org/10.1111/cge.14036

Ejemplares similares

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia
por: Di Taranto, Maria Donata, et al.
Publicado: (2020)

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
por: Di Taranto, Maria Donata, et al.
Publicado: (2017)

Efficacy and Safety of Bempedoic Acid in Patients With Hypercholesterolemia: Systematic Review and Meta‐Analysis of Randomized Controlled Trials
por: Di Minno, Alessandro, et al.
Publicado: (2020)

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis
por: Di Taranto, Maria Donata, et al.
Publicado: (2023)

Pathophysiological Role of Synovitis in Hemophilic Arthropathy Development: A Two-Hit Hypothesis
por: Calcaterra, Ilenia, et al.
Publicado: (2020)

An Untargeted Lipidomic Analysis Reveals Depletion of Several Phospholipid Classes in Patients with Familial Hypercholesterolemia on Treatment with Evolocumab
por: Anesi, Andrea, et al.
Publicado: (2021)

Volanesorsen to treat severe hypertriglyceridaemia: A pooled analysis of randomized controlled trials
por: Calcaterra, Ilenia, et al.
Publicado: (2022)

Lipoprotein(a) Where Do We Stand? From the Physiopathology to Innovative Terapy
por: Iannuzzo, Gabriella, et al.
Publicado: (2021)

Treatment with PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia Lowers Plasma Levels of Platelet-Activating Factor and Its Precursors: A Combined Metabolomic and Lipidomic Approach
por: Di Minno, Alessandro, et al.
Publicado: (2021)

Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic Leukaemia
por: Iannuzzi, Arcangelo, et al.
Publicado: (2022)

Carotid Atherosclerosis, Ultrasound and Lipoproteins
por: Iannuzzi, Arcangelo, et al.
Publicado: (2021)

Hemostatic Changes in Patients with COVID-19: A Meta-Analysis with Meta-Regressions
por: Di Minno, Matteo Nicola Dario, et al.
Publicado: (2020)

Galectin-3 in Cardiovascular Diseases
por: Blanda, Valeria, et al.
Publicado: (2020)

Post-Bariatric Hypoglycemia Is Associated with Endothelial Dysfunction and Increased Oxidative Stress
por: Lupoli, Roberta, et al.
Publicado: (2022)

Calprotectin Levels and Neutrophil Count Are Prognostic Markers of Mortality in COVID-19 Patients
por: Cardiero, Giovanna, et al.
Publicado: (2022)

Risk Assessment and Antithrombotic Strategies in Antiphospholipid Antibody Carriers
por: Calcaterra, Ilenia, et al.
Publicado: (2021)

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports
por: Giacobbe, Carola, et al.
Publicado: (2022)

Effects of Bisphosphonate Treatment on Circulating Lipid and Glucose Levels in Patients with Metabolic Bone Disorders
por: Iannuzzo, Gabriella, et al.
Publicado: (2021)

Persistent Endothelial Dysfunction in Post-Acute COVID-19 Syndrome: A Case-Control Study
por: Ambrosino, Pasquale, et al.
Publicado: (2021)

Clinical Assessment of Endothelial Function in Convalescent COVID-19 Patients Undergoing Multidisciplinary Pulmonary Rehabilitation
por: Ambrosino, Pasquale, et al.
Publicado: (2021)

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
por: D’Erasmo, Laura, et al.
Publicado: (2022)

Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study
por: Gelzo, Monica, et al.
Publicado: (2019)

Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group
por: Pederiva, Cristina, et al.
Publicado: (2023)

Acquired Hemophilia A Successfully Treated with Rituximab
por: D’Arena, Giovanni, et al.
Publicado: (2015)

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
por: Marduel, Marie, et al.
Publicado: (2010)

Overcoming limitations of current antiplatelet drugs: A concerted effort for more profitable strategies of intervention
por: Di Minno, Matteo Nicola Dario, et al.
Publicado: (2011)

Vascular Effects of the Polyphenolic Nutraceutical Supplement Taurisolo(®): Focus on the Protection of the Endothelial Function
por: Martelli, Alma, et al.
Publicado: (2021)

8-Hydroxy-2-Deoxyguanosine Levels and Cardiovascular Disease: A Systematic Review and Meta-Analysis of the Literature
por: Di Minno, Alessandro, et al.
Publicado: (2016)

Mesoglycan: Clinical Evidences for Use in Vascular Diseases
por: Tufano, Antonella, et al.
Publicado: (2010)

The genetic spectrum of familial hypercholesterolemia in Pakistan
por: Ahmed, Waqas, et al.
Publicado: (2013)

Endothelial Dysfunction in COVID-19: A Unifying Mechanism and a Potential Therapeutic Target
por: Ambrosino, Pasquale, et al.
Publicado: (2022)

COVID-19 and functional disability: current insights and rehabilitation strategies
por: Ambrosino, Pasquale, et al.
Publicado: (2020)

Pain Care Management in Rare Diseases
por: Rodríguez-Merchán, Emérito Carlos, et al.
Publicado: (2023)

Statistical and Computational Methods for Genetic Diseases: An Overview
por: Camastra, Francesco, et al.
Publicado: (2015)

Could High Levels of Tissue Polypeptide Specific Antigen, a Marker of Apoptosis Detected in Nonalcoholic Steatohepatitis, Improve after Weight Loss?
por: Tarantino, Giovanni, et al.
Publicado: (2009)

Targeting Nanostrategies for Imaging of Atherosclerosis
por: Costagliola di Polidoro, Angela, et al.
Publicado: (2021)

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland
por: Sharifi, Mahtab, et al.
Publicado: (2016)

The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population
por: Fairoozy, R. H., et al.
Publicado: (2017)

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia
por: Madar, László, et al.
Publicado: (2022)

Impact of Valve Morphology on the Prevalence of Coronary Artery Disease: A Systematic Review and Meta‐Analysis
por: Poggio, Paolo, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_svsit8uc1j4bksdq9jfhbtne7m