ReviewFrontiers in physiology2017
Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.
Review in Frontiers in physiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 80 citations in OpenAlex.
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.European journal of human genetics : EJHG · 2019Trial
- Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.European journal of human genetics : EJHG · 2019Trial
- Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.Diagnostics (Basel, Switzerland) · 2025Article
- Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Severe Aortic Regurgitation and Ascending Aneurysm in a Patient with Pentacuspid Aortic Valve: Case Report and Review.Journal of cardiovascular development and disease · 2025Article
- Aortic Regurgitation: An Updated Review of Etiologies, Diagnostic Strategies, and Clinical Management.Reviews in cardiovascular medicine · 2025Review
- Bicuspid Aortic Valve and Sudden Cardiac Death.Life (Basel, Switzerland) · 2025Review
- Expression Profile of TGFB1 Gene in Pediatric Patients with Isolated Bicuspid Aortic Valve.Pediatric cardiology · 2025Article
- Circulating Matrix Metalloproteinases for Prediction of Aortic Dilatation in Children with Bicuspid Aortic Valve: A Single-Center, Observational Study.International journal of molecular sciences · 2024Observational
- PDIA2 is associated with the prognosis of prostate cancer, and downregulation of PDIA2 delays the progression of prostate cancer cells.Scientific reports · 2024Article
- Deficient GATA6-CXCR7 signaling leads to bicuspid aortic valve.Disease models & mechanisms · 2024Article
- Intricate MIB1-NOTCH-GATA6 Interactions in Cardiac Valvular and Septal Development.Journal of cardiovascular development and disease · 2024Article
- Valvulopathies and Genetics: Where are We?Reviews in cardiovascular medicine · 2024Review
- Human Genetics of Semilunar Valve and Aortic Arch Anomalies.Advances in experimental medicine and biology · 2024Review
- Current understanding of the genetics of thoracic aortic disease.Vessel plus · 2024Article
- The key role of miRNA in syndromic and sporadic forms of ascending aortic aneurysms as biomarkers and targets of novel therapeutic strategies.Frontiers in genetics · 2024Review
- Spatial transcriptomics reveals novel genes during the remodelling of the embryonic human arterial valves.PLoS genetics · 2023Article
- A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines.Journal of cardiovascular development and disease · 2023Review
- The Natural History of Bicuspid Aortic Valve Disease.Structural heart : the journal of the Heart Team · 2023Review
- Patients with Bicuspid Aortopathy and Aortic Dilatation.Journal of clinical medicine · 2022Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication. A 4-fold increase in BAV prevalence in a large cohort of unrelated MFS patients with respect to general population was reported, as well as in LDS patients (8-fold). It is also known that BAV is more frequent in patients with thoracic aortic aneurysm (TAA) related to mutations in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.