ArticleClinical science (London, England : 1979)2019
Rare mutations of
Article in Clinical science (London, England : 1979), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Identification of Centrosome Duplication-Related Biomarkers in Hypertrophic Cardiomyopathy Through Integrative Multi-Omics, Single-Cell Transcriptomics, and Experimental Validation.Journal of the American Heart Association · 2026Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Integrated single-cell genomics, transcriptomics, and pathomics to identify potential biomarkers in muscle-invasive bladder cancer.Translational andrology and urology · 2025Article
- Mitochondrial fusion and cristae reorganization facilitate acquisition of cardiomyocyte identity during reprogramming of murine fibroblasts.Cell reports · 2025Article
- Application and perspective of CRISPR/Cas9 genome editing technology in human diseases modeling and gene therapy.Frontiers in genetics · 2024Review
- Changes in glutamic oxaloacetic transaminase 2 during rat physiological and pathological cardiomyocyte hypertrophy.BMC cardiovascular disorders · 2023Article
- Translational landscape of direct cardiac reprogramming reveals a role of Ybx1 in repressing cardiac fate acquisition.Nature cardiovascular research · 2023Article
- Contribution of ADAM17 and related ADAMs in cardiovascular diseases.Cellular and molecular life sciences : CMLS · 2021Review
- The Synergy of ADAM17-Induced Myocardial Inflammation and Metabolic Lipids Dysregulation During Acute Stress: New Pathophysiologic Insights Into Takotsubo Cardiomyopathy.Frontiers in cardiovascular medicine · 2021Review
- The Downregulation of ADAM17 Exerts Protective Effects against Cardiac Fibrosis by Regulating Endoplasmic Reticulum Stress and Mitophagy.Oxidative medicine and cellular longevity · 2021Article
- Cardiac hypertrophy in a dish: a human stem cell based model.Biology open · 2020Article
- Substrate-selective protein ectodomain shedding by ADAM17 and iRhom2 depends on their juxtamembrane and transmembrane domains.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Base Editing Mediated Generation of Point Mutations Into Human Pluripotent Stem Cells for Modeling Disease.Frontiers in cell and developmental biology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tetralogy of Fallot (TOF) is the most common cyanotic form of congenital heart defects (CHDs). The right ventricular hypertrophy is associated with the survival rate of patients with repaired TOF. However, very little is known concerning its genetic etiology. Based on mouse model studies, a disintergrin and metalloprotease 10/17 (ADAM10 and ADAM17) are the key enzymes for the NOTCH and ErbB pathways, which are critical pathways for heart development. Mutations in these two genes have not been previously reported in human TOF patients. In this study, we sequenced
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Registered trials
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