Cargando…

Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

Bicuspid aortic valve (BAV) is a common (0.5–2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or...

Descripción completa

Detalles Bibliográficos
Autores principales:	Giusti, Betti, Sticchi, Elena, De Cario, Rosina, Magi, Alberto, Nistri, Stefano, Pepe, Guglielmina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Physiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573733/ https://www.ncbi.nlm.nih.gov/pubmed/28883797 http://dx.doi.org/10.3389/fphys.2017.00612

Ejemplares similares

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
por: Sticchi, Elena, et al.
Publicado: (2018)

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score
por: Pepe, Guglielmina, et al.
Publicado: (2020)

A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection
por: Giusti, Betti, et al.
Publicado: (2016)

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome
por: Pepe, Guglielmina, et al.
Publicado: (2014)

Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
por: De Cario, Rosina, et al.
Publicado: (2020)

Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection
por: De Cario, Rosina, et al.
Publicado: (2022)

Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2
por: Nistri, Stefano, et al.
Publicado: (2021)

Marfan syndrome: current perspectives
por: Pepe, Guglielmina, et al.
Publicado: (2016)

Aortic Dilatation in Patients With Bicuspid Aortic Valve
por: Wang, Jing, et al.
Publicado: (2021)

Pathogenic Mechanisms of Bicuspid Aortic Valve Aortopathy
por: Yassine, Noor M., et al.
Publicado: (2017)

Aortic Wall Elastic Properties in Case of Bicuspid Aortic Valve
por: Goudot, Guillaume, et al.
Publicado: (2019)

Managing Thoracic Aortic Aneurysm in Patients with Bicuspid Aortic Valve Based on Aortic Root-Involvement
por: Norton, Elizabeth, et al.
Publicado: (2017)

Commentary: Managing Thoracic Aortic Aneurysm in Patients with Bicuspid Aortic Valve Based on Aortic Root-Involvement
por: Russo, Marco, et al.
Publicado: (2017)

Thoracic Aortic Aneurysm Development in Patients with Bicuspid Aortic Valve: What Is the Role of Endothelial Cells?
por: van de Pol, Vera, et al.
Publicado: (2017)

Evolution of Precision Medicine and Surgical Strategies for Bicuspid Aortic Valve-Associated Aortopathy
por: Fatehi Hassanabad, Ali, et al.
Publicado: (2017)

Bicuspid Aortic Valve and Endothelial Dysfunction: Current Evidence and Potential Therapeutic Targets
por: Antequera-González, Borja, et al.
Publicado: (2020)

Carotid Stiffness Assessment With Ultrafast Ultrasound Imaging in Case of Bicuspid Aortic Valve
por: Goudot, Guillaume, et al.
Publicado: (2019)

Mechanisms of Smooth Muscle Cell Differentiation Are Distinctly Altered in Thoracic Aortic Aneurysms Associated with Bicuspid or Tricuspid Aortic Valves
por: Ignatieva, Elena, et al.
Publicado: (2017)

Bicuspid Aortic Valve: An Update in Morphology, Genetics, Biomarker, Complications, Imaging Diagnosis and Treatment
por: Liu, Tianshu, et al.
Publicado: (2019)

Methods: Aortic wall deformation assessment by ultrafast ultrasound imaging: Application to bicuspid aortic valve associated aortopathy
por: Goudot, Guillaume, et al.
Publicado: (2023)

Characteristics of Carotid Artery Structure and Mechanical Function and Their Relationships with Aortopathy in Patients with Bicuspid Aortic Valves
por: Kim, Mihyun, et al.
Publicado: (2017)

Aortic Dilatation in Pediatric Patients with Bicuspid Aortic Valve: How the Choice of Nomograms May Change Prevalence
por: Spaziani, Gaia, et al.
Publicado: (2023)

Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach
por: Frasconi, Paolo, et al.
Publicado: (2021)

A Fluid–Structure Interaction Study of Different Bicuspid Aortic Valve Phenotypes Throughout the Cardiac Cycle
por: Yan, Wentao, et al.
Publicado: (2021)

Clinical implications of the biomechanics of bicuspid aortic valve and bicuspid aortopathy
por: Fatehi Hassanabad, Ali, et al.
Publicado: (2022)

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
por: Gillis, Elisabeth, et al.
Publicado: (2017)

Point on the Aortic Bicuspid Valve
por: Bernard, Chloé, et al.
Publicado: (2022)

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
por: Gillis, Elisabeth, et al.
Publicado: (2017)

Morphotype-Dependent Flow Characteristics in Bicuspid Aortic Valve Ascending Aortas: A Benchtop Particle Image Velocimetry Study
por: McNally, Andrew, et al.
Publicado: (2017)

Abnormal Haemodynamic Flow Patterns in Bicuspid Pulmonary Valve Disease
por: Bissell, Malenka M., et al.
Publicado: (2017)

Editorial: The Pathogenetic Mechanisms at the Basis of Aortopathy Associated with Bicuspid Aortic Valve: Insights from “Omics”, Models of Disease and Emergent Technologies
por: Forte, Amalia, et al.
Publicado: (2017)

The aortic team and bicuspid aortic valve patients
por: Misfeld, Martin, et al.
Publicado: (2022)

Aortic valve endocarditis in patients with bicuspid and tricuspid aortic valves
por: Le, Tan, et al.
Publicado: (2021)

Transcatheter Aortic Valve Therapy for Bicuspid Aortic Valve Stenosis
por: Dayawansa, Nalin H., et al.
Publicado: (2023)

Cerebral and Retinal Infarction in Bicuspid Aortic Valve
por: Huntley, Geoffrey D., et al.
Publicado: (2023)

Embryonic Development of the Bicuspid Aortic Valve
por: Martin, Peter S., et al.
Publicado: (2015)

Geometric characteristics of bicuspid aortic valves
por: Nijs, Jan, et al.
Publicado: (2021)

Functionally Bicuspid Quadricuspid Aortic Valve
por: Vucic, Esad, et al.
Publicado: (2022)

MicroRNAs Clustered within the 14q32 Locus Are Associated with Endothelial Damage and Microparticle Secretion in Bicuspid Aortic Valve Disease
por: Martínez-Micaelo, Neus, et al.
Publicado: (2017)

Impact of Regular Physical Activity on Aortic Diameter Progression in Paediatric Patients with Bicuspid Aortic Valve
por: Monda, Emanuele, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_68rqpoqemjcq55ni8b1aqea7us