ArticleCirculation2023
Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy.
Article in Circulation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 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
- The roles of the microtubule cytoskeletal network in cardiac mechanobiology.Journal of cell science · 2026Review
- Insights into Cardiomyocyte Regeneration from Screening and Transcriptomics Approaches.International journal of molecular sciences · 2026Review
- Mitochondrial Adaptation to Mechanical Stress in Cardiac Ageing and Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Optimization of Small-Molecule Wnt Pathway Activation with CHIR99021 for Human Induced Pluripotent Stem Cell Differentiation to Cardiomyocytes.The National high school journal of science · 2026Article
- Review
- Discovery ofDiagnostics (Basel, Switzerland) · 2025Article
- The PCM scaffold enables RNA localization to centrosomes.Molecular biology of the cell · 2025Article
- Gain and loss of the centrosomal protein taxilin-beta influences cardiac proteostasis and stress.Journal of molecular and cellular cardiology · 2025Article
- Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing.Frontiers in genetics · 2025Article
- Emerin preserves stem cell survival through maintenance of centrosome and nuclear lamina structure.Development (Cambridge, England) · 2024Article
- Multiscale mapping of transcriptomic signatures for cardiotoxic drugs.Nature communications · 2024Article
- Review
- Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis.Frontiers in pediatrics · 2024Review
Corrections and comments
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Authors and funding
29 authors at 7 institutions in 5 countries.
Funding
Abstract
backgroundDuring cardiomyocyte maturation, the centrosome, which functions as a microtubule organizing center in cardiomyocytes, undergoes dramatic structural reorganization where its components reorganize from being localized at the centriole to the nuclear envelope. This developmentally programmed process, referred to as centrosome reduction, has been previously associated with cell cycle exit. However, understanding of how this process influences cardiomyocyte cell biology, and whether its disruption results in human cardiac disease, remains unknown. We studied this phenomenon in an infant with a rare case of infantile dilated cardiomyopathy (iDCM) who presented with left ventricular ejection fraction of 18% and disrupted sarcomere and mitochondria structure.
methodsWe performed an analysis beginning with an infant who presented with a rare case of iDCM. We derived induced pluripotent stem cells from the patient to model iDCM in vitro. We performed whole exome sequencing on the patient and his parents for causal gene analysis. CRISPR/Cas9-mediated gene knockout and correction in vitro were used to confirm whole exome sequencing results. Zebrafish and
resultsWhole exome sequencing and CRISPR/Cas9 gene knockout/correction identified
conclusionsThis study is the first to demonstrate a case of human disease caused by a defect in centrosome reduction. We also uncovered a novel role for
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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 Socratic graph.