ArticleeLife2023
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.
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Article in eLife, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
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Who cites it
18 citing papers in PubMed, 17 citations in OpenAlex.
- Discovery and characterization of gene-by-environment and epistatic genetic effects in a vertebrate model.Cell genomics · 2026Article
- Mitochondrial dysfunction underlies cardiac contractility and growth defects in a zebrafish model ofbioRxiv : the preprint server for biology · 2026Article
- The MICOS Complex Regulates Mitochondrial Structure and Oxidative Stress During Age-Dependent Structural Deficits in the Kidney.Aging cell · 2026Article
- The MICOS Complex Regulates Mitochondrial Structure and Oxidative Stress During Age-Dependent Structural Deficits in the Kidney.bioRxiv : the preprint server for biology · 2026Article
- A perspective on the future of heart failure research.Journal of molecular and cellular cardiology plus · 2026Article
- A 5-hydroxymethylcytosine-based noninvasive model for acute myocardial infarction in type 2 diabetes: implications in cardiovascular outcomes from a 5-year median follow-up study.Cardiovascular diabetology · 2026Article
- CHCHD3(MIC19): mitochondrial cristae structure regulation and disease associations.Frontiers in molecular biosciences · 2026Review
- LncRNA H19 Upregulation Links Hypoplastic Left Heart Syndrome to Impaired PINK1/Parkin-Mediated Mitophagy and Ischemic Vulnerability.bioRxiv : the preprint server for biology · 2025Article
- Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Article
- The Role of Mitochondrial Dysfunction and Dynamics in Hypertensive Heart Disease: Mechanisms and Recent Advances.Biology · 2025Review
- Hypoplastic left heart syndrome-a scoping review.Translational pediatrics · 2025Review
- Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping.Disease models & mechanisms · 2024Article
- Mitochondrial Structure and Function in Human Heart Failure.Circulation research · 2024Review
- Mitochondria in disease: changes in shapes and dynamics.Trends in biochemical sciences · 2024Review
- Article
- Evidence-based treatment strategies for hypoplastic left heart syndrome: The role of EFNA1/EphA.Annals of pediatric cardiologyReview
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Katja Birker *Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.
Shuchao Ge *Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.ORCID 0000-0002-6590-9050
Natalie J Kirkland *Department of Bioengineering, Sanford Consortium for Regenerative Medicine, UCSD, School of Medicine, San Diego, United States.
Jeanne L Theis *Cardiovascular Genetics Research Laboratory, Mayo Clinic, Rochester, United States.ORCID 0000-0002-4494-8683
James MarchantDevelopment, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.
Zachary C FogartyDivision of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, United States.ORCID 0000-0001-5588-3216
Maria A MissinatoDevelopment, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.ORCID 0000-0001-9055-758X
Sreehari KalvakuriDevelopment, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.
Paul GrossfeldDepartment of Pediatrics, UCSD School of Medicine, La Jolla, Rady's Hospital MC 5004, San Diego, United States.
Adam J EnglerDepartment of Bioengineering, Sanford Consortium for Regenerative Medicine, UCSD, School of Medicine, San Diego, United States.
Karen OcorrDevelopment, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.ORCID 0000-0003-2593-0119
Timothy J NelsonCenter for Regenerative Medicine, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Division of General Internal Medicine, Department of Molecular and Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, United States.ORCID 0000-0002-3862-7023
Alexandre R ColasDevelopment, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.ORCID 0000-0001-8489-0570
Timothy M OlsonDepartment of Cardiovascular Medicine, Division of Pediatric Cardiology, Department of Pediatric & Adolescent Medicine, Cardiovascular Genetics Research Laboratory, Mayo Clinic, Rochester, United States.ORCID 0000-0003-2716-9423
Georg VoglerDevelopment, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.ORCID 0000-0002-8303-3531
Rolf BodmerDevelopment, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, San Diego, United States.ORCID 0000-0001-9087-1210
Sanford Burnham Prebys Medical Discovery Institute · USSanford Consortium for Regenerative Medicine · USMayo Clinic in Arizona · USWinnMed · US
Funding
Tumor Microenvironment and Cancer ImmunologyP30CA030199 · NCI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI ELENA B PASQUALE · 1985 to 2026
$107.2MHEART DEVELOPMENT IN DROSOPHILAR01HL054732 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BODMER, ROLF · 1995 to 2024
$11.3MDefining chromostasis - a candidate regulator of healthy aging and longevityR01AG071464 · NIA · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI ADAMS, PETER D. · 2020 to 2024
$3.9MDiscovery of Small Molecule Promoters of Cardiomyocyte Proliferation to Restore Cardiac Performance in DiseaseR01HL148827 · NHLBI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI COLAS, ALEXANDRE ROMAIN · 2019 to 2022
$2.0MGenetic Pathways in Ceramide-Associated Lipotoxic Cardiomyopathy and Heart FailureR01HL149992 · NHLBI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI BODMER, ROLF · 2020 to 2023
$1.9MDiscovery of small molecule regulators of atrial cardiomyocyte action potential duration to restore normal cardiac rhythm in atrial fibrillationR01HL153645 · NHLBI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI COLAS, ALEXANDRE ROMAIN · 2021 to 2024
$1.9MNCI NIH HHS P30 CA030199NHLBI NIH HHS R01 HL054732NHLBI NIH HHS R01 HL148827NHLBI NIH HHS R01 HL149992NHLBI NIH HHS R01 HL153645NIA NIH HHS R01 AG071464
Abstract
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We performed whole genome sequencing (WGS) on 183 HLHS patient-parent trios to identify candidate genes, which were functionally tested in the
Indexed as
Heart Defects, CongenitalHypoplastic Left Heart SyndromeActomyosinAdenosine TriphosphateComputational BiologyHumansMitochondrial ProteinsActomyosinAdenosine TriphosphateCHCHD3 protein, humanMitochondrial ProteinsCHCHD3/6CHDD. melanogasterDrosophilageneticsgenomicsHLHShumanMICOS
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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 OpenQuestion graph.