Cargando…

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia

Objective: It has been shown that pathogenic variants are associated with poor clinical outcomes in patients with familial hypercholesterolemia (FH). However, data on the effect of different types of pathogenic variants on FH phenotype is limited. Methods: We retrospectively investigated the associa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tada, Hayato, Kojima, Nobuko, Yamagami, Kan, Nomura, Akihiro, Nohara, Atsushi, Usui, Soichiro, Sakata, Kenji, Fujino, Noboru, Takamura, Masayuki, Kawashiri, Masa-Aki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035489/ https://www.ncbi.nlm.nih.gov/pubmed/35480308 http://dx.doi.org/10.3389/fgene.2022.872056

Ejemplares similares

Synergistic effect of lipoprotein (a) and C-reactive protein on prognosis of familial hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2022)

Impact of Healthy Lifestyle in Patients With Familial Hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2023)

Early diagnosis and treatments in childhood are associated with better prognosis in patients with familial hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2022)

Coronary artery calcium among patients with heterozygous familial hypercholesterolaemia
por: Tada, Hayato, et al.
Publicado: (2023)

Impact of the severe familial hypercholesterolemia status on atherosclerotic risks
por: Tada, Hayato, et al.
Publicado: (2023)

Prevalence and Impact of Apolipoprotein E7 on LDL Cholesterol Among Patients With Familial Hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2021)

A reassessment of the Japanese clinical diagnostic criteria of familial hypercholesterolemia in a hospital-based cohort using comprehensive genetic analysis
por: Tada, Hayato, et al.
Publicado: (2020)

The Assessment of Carotid Atherosclerotic Plaque among Young Patients with Familial Hypercholesterolemia
por: Shibayama, Junichi, et al.
Publicado: (2022)

Eggplant-Like Coronary Aneurysm With Massive Thrombus
por: Yamagami, Kan, et al.
Publicado: (2022)

Prevalence, self-awareness, and LDL cholesterol levels among patients highly suspected as familial hypercholesterolemia in a Japanese community
por: Tada, Hayato, et al.
Publicado: (2020)

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5
por: Tada, Hayato, et al.
Publicado: (2022)

Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol
por: Nomura, Akihiro, et al.
Publicado: (2018)

Individualized Treatment for Patients With Familial Hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2022)

Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology
por: Tada, Hayato, et al.
Publicado: (2020)

Challenges of Precision Medicine for Atherosclerotic Cardiovascular Disease Based on Human Genome Information
por: Tada, Hayato, et al.
Publicado: (2021)

Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents
por: Tada, Hayato, et al.
Publicado: (2021)

Effects of artificial intelligence-SsupporTed Automated NutRiTional Intervention on LDL cholesterol Control in Patients with Familial Hypercholesterolaemia (iSTART-FH): protocol for a randomised controlled trial
por: Tada, Hayato, et al.
Publicado: (2021)

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia
por: Okada, Hirofumi, et al.
Publicado: (2022)

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease
por: Tada, Hayato, et al.
Publicado: (2018)

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
por: Tada, Hayato, et al.
Publicado: (2020)

Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country
por: Tada, Hayato, et al.
Publicado: (2020)

Case Report: Myocarditis Associated With COVID-19 mRNA Vaccination Following Myocarditis Associated With Campylobacter Jejuni
por: Kojima, Nobuko, et al.
Publicado: (2022)

Clinical Characteristics, Outcomes, and Risk Factors for Adverse Events in Elderly and Non-Elderly Japanese Patients With Non-Valvular Atrial Fibrillation　― Competing Risk Analysis From the Hokuriku-Plus AF Registry ―
por: Tsuda, Toyonobu, et al.
Publicado: (2022)

Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol
por: Nomura, Akihiro, et al.
Publicado: (2018)

A Case of Pulmonary Hypertension in a 67-Year-Old Woman with Thiamine Deficiency Following Partial Gastrectomy and Exacerbated by Diuretics
por: Shibayama, Junichi, et al.
Publicado: (2022)

Lipoprotein(a) and the Risk of Chronic Kidney Disease in Hospitalized Japanese Patients
por: Tada, Hayato, et al.
Publicado: (2020)

Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method
por: Tada, Hayato, et al.
Publicado: (2015)

Aortic Root Calcification Score as an Independent Factor for Predicting Major Adverse Cardiac Events in Familial Hypercholesterolemia
por: Okada, Hirofumi, et al.
Publicado: (2018)

Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene
por: Tada, Hayato, et al.
Publicado: (2022)

The First Report of Purulent Pericarditis Associated with Aortic Stent-graft Infection Caused by Methicillin-susceptible Staphylococcus aureus
por: Yamagami, Kan, et al.
Publicado: (2019)

Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene
por: Tada, Hayato, et al.
Publicado: (2020)

Clinical Impact of Carotid Plaque Score rather than Carotid Intima-Media Thickness on Recurrence of Atherosclerotic Cardiovascular Disease Events
por: Tada, Hayato, et al.
Publicado: (2020)

Transient swallowing‐induced atrial tachycardia in a patient with genotyped hypertrophic cardiomyopathy
por: Fujino, Noboru, et al.
Publicado: (2020)

Association between Cardiovascular Health and Incident Atrial Fibrillation in the General Japanese Population Aged ≥40 Years
por: Nishikawa, Tetsuo, et al.
Publicado: (2021)

Changes in lipoprotein lipase and endothelial lipase mass in familial hypercholesterolemia during three-drug lipid-lowering combination therapy
por: Tada, Hayato, et al.
Publicado: (2016)

Treatment with a Direct Oral Anticoagulant for Nonbacterial Thrombotic Endocarditis
por: Tamura, Yudai, et al.
Publicado: (2021)

Serum Triglycerides and Atherosclerotic Cardiovascular Disease: Insights from Clinical and Genetic Studies
por: Tada, Hayato, et al.
Publicado: (2018)

Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia
por: Tada, Hayato, et al.
Publicado: (2018)

Lipoprotein(a) as an Old and New Causal Risk Factor of Atherosclerotic Cardiovascular Disease
por: Tada, Hayato, et al.
Publicado: (2019)

Triglycerides on the Rise!
por: Tada, Hayato, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_v01ljfgc4j9qhub8ghh4t3sn0t