A5057777873- Congenital heart defects research
- Coronary Interventions and Diagnostics
- Congenital Heart Disease Studies
- Cardiac Imaging and Diagnostics
- Adipokines, Inflammation, and Metabolic Diseases
- Blood Pressure and Hypertension Studies
- Acute Myocardial Infarction Research
- Cardiomyopathy and Myosin Studies
- Cardiovascular Disease and Adiposity
- RNA modifications and cancer
- Hormonal Regulation and Hypertension
- Renin-Angiotensin System Studies
- Heart Rate Variability and Autonomic Control
- RNA and protein synthesis mechanisms
- Adipose Tissue and Metabolism
- Atrial Fibrillation Management and Outcomes
- Cardiac electrophysiology and arrhythmias
- Antiplatelet Therapy and Cardiovascular Diseases
- Tracheal and airway disorders
- Regulation of Appetite and Obesity
- Sirtuins and Resveratrol in Medicine
- Coronary Artery Anomalies
- Lipid metabolism and disorders
- Cerebrovascular and Carotid Artery Diseases
- Genetics and Neurodevelopmental Disorders
Huadong Hospital
2018-2025
Fudan University
2018-2025
YangPu Geriatric Hospital
2020-2024
Shanghai Chest Hospital
2008-2018
Shanghai Jiao Tong University
2010-2018
Bicuspid aortic valve (BAV) is the most common form of congenital cardiovascular defect in humans worldwide and responsible for substantial morbidity mortality. Accumulating evidence has demonstated that genetic risk factors are involved pathogenesis BAV. However, BAV genetically heterogeneous basis underlying a large number patients remains unknown. In present study, coding regions splice junction sites GATA5 gene, which codes zinc-finger transcription factor crucial normal development...
Tetralogy of Fallot (TOF) represents the most common form cyanotic congenital heart disease and accounts for significant morbidity mortality in humans. Emerging evidence has implicated genetic defects pathogenesis TOF. However, TOF is genetically heterogeneous basis patients remains unclear. In this study, GATA4 gene were sequenced 52 probands with familial TOF, three novel heterozygous mutations, including A9P L51V both located putative first transactivational domain N285S C-terminal zinc...
Dilated cardiomyopathy (DCM) is the most prevalent type of primary myocardial disease, which third common cause heart failure and frequent reason for transplantation. Aggregating evidence demonstrates that genetic risk factors are involved in pathogenesis idiopathic DCM. Nevertheless, DCM remarkable heterogeneity defects underpinning an overwhelming majority patients remain unknown. In present study, whole coding exons splice junction sites NKX2-5 gene, encodes a homeodomain transcription...
Congenital heart disease (CHD), the most common form of developmental abnormality in humans, remains a leading cause morbidity and mortality neonates.Genetic defects have been recognized as predominant causes CHD.Nevertheless, CHD is substantial genetic heterogeneity underlying cases remain unclear.In current study, coding regions splicing junction sites TBX20 gene, which encodes T-box transcription factor key to cardiovascular morphogenesis, were sequenced 175 unrelated patients with CHD,...
The cardiac T-box transcription factor TBX5 is crucial for proper cardiovascular development, and mutations in have been associated with various congenital heart diseases arrhythmias humans. However, whether mutated contributes to dilated cardiomyopathy (DCM) remains unclear. In this study, the coding exons flanking introns of gene were sequenced 190 unrelated patients idiopathic DCM. available family members index patient carrying an identified mutation 200 ethnically matched healthy...
Congenital heart disease (CHD) is the most common developmental abnormality, and leading noninfectious cause of mortality in neonates. Increasing evidence demonstrates that genetic defects play an important role pathogenesis CHD. However, CHD exhibits substantial heterogeneity, determinants for remain unknown overwhelming majority cases. In current study, coding exons flanking introns HAND2 gene, which encodes a basic helix-loop-helix transcription factor essential normal cardiovascular...
The FAVOR (Comparison of Quantitative Flow Ratio Guided and Angiography Percutaneous Intervention in Patients with Coronary Artery Disease) III China trial demonstrated that percutaneous coronary intervention (PCI) lesion selection using quantitative flow ratio (QFR) measurement, a novel angiography-based approach for estimating fractional reserve, improved two-year clinical outcomes compared standard angiography guidance. This study aimed to assess the cost-effectiveness QFR-guided PCI from...
The cardiac transcription factor GATA4 is essential for development, and mutations in this gene have been implicated a wide variety of congenital heart diseases both animal models humans. However, whether mutated predisposes to dilated cardiomyopathy (DCM) remains unknown. In study, the whole coding region splice junction sites was sequenced 110 unrelated patients with idiopathic DCM. available relatives index patient harboring an identified mutation 200 ethnically matched healthy...
OBJECTIVE:The aim of this study was to evaluate the prevalence and spectrum Nkx2.5 mutations associated with idiopathic atrial fibrillation (AF).METHODS: A cohort 136 unrelated patients 200 unrelated, ethnically matched healthy controls were enrolled.The coding exons splice junctions gene sequenced in patients, available relatives mutation carriers subsequently genotyped for identified mutations.The functional characteristics mutated analyzed using a dual-luciferase reporter assay...
Atrial fibrillation (AF) is the most common form of sustained cardiac arrhythmia in humans and responsible for substantial morbidity mortality worldwide.Emerging evidence indicates that abnormal cardiovascular development involved pathogenesis AF.In this study, coding exons splice sites NKX2-5 gene, which encodes a homeodomain-containing transcription factor essential genesis, were sequenced 146 unrelated patients with lone AF as well available relatives mutation carriers.A total 700...
Abstract Background: The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, mice, deletion of the Methods: coding exons splicing junction sites Results: A novel heterozygous mutation, p.K351X, was identified an index patient with DCM. Genetic analysis mutation carrier’s family showed that co-segregated DCM, which transmitted autosomal dominant pattern complete penetrance. nonsense absent 400 referential chromosomes, altered amino acid...
Congenital atrial septal defect (ASD) and progressive atriventricular block (AVB) are the two most common phenotypes linked to NK2 homeobox 5 (NKX2.5) mutations in animals humans. However, prevalence spectrum of NKX2.5 mutation patients with ASD AVB remain be elucidated. In present study, coding exons flanking introns gene, which encodes a homeobox‑containing transcription factor essential for development heart, were sequenced cohort 62 unrelated AVB, subsequently carrier's available family...
Congenital heart disease (CHD) is the most common form of birth defect and leading noninfectious cause infant death. A growing body evidence demonstrates that genetic risk factors are involved in pathogenesis CHD. However, CHD a genetically heterogeneous defects underlying an overwhelming majority patients remain unclear. In this study, whole coding region splice junction sites PITX2c gene, which encodes variant 3 paired-like homeodomain transcription factor 2 crucial for normal...
Abstract Background: The basic helix-loop-helix transcription factor HAND1 is essential for cardiac development and structural remodeling, mutations in have been causally linked to various congenital heart diseases. However, whether genetically compromised predisposes dilated cardiomyopathy (DCM) humans remains unknown. Methods: whole coding region splicing junctions of the gene were sequenced 140 unrelated patients with idiopathic DCM. available family members index patient carrying an...
Dilated cardiomyopathy (DCM), the most common form of primary myocardial disease, is a leading cause congestive heart failure and indication for transplantation. Recently, NKX2-5 mutations have been involved in pathogenesis familial DCM. However, prevalence spectrum associated with sporadic DCM remain to be evaluated. In this study, coding regions flanking introns gene, which encodes cardiac transcription factor pivotal development structural remodeling, were sequenced 210 unrelated patients...