ArticleProceedings of the National Academy of Sciences of the United States of America2007
Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers.
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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.
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Who cites it
91 citing papers in PubMed, 128 citations in OpenAlex.
- TMEM174 Deficiency Reduces Longevity by Promoting Phosphate-Driven Vascular Calcification.Research square · 2026Article
- The liver regulates ectopic calcification in Abcc6-deficient models of pseudoxanthoma elasticum.The Journal of clinical investigation · 2026Article
- TMEM174 Deficiency Reduces Longevity by Promoting Phosphate-Driven Vascular Calcification.bioRxiv : the preprint server for biology · 2026Article
- ABCC6-Related Left Ventricular Papillary Muscle Calcification.JACC. Case reports · 2025Article
- Soft tissue calcifications in chronic kidney disease-beyond the vasculature.Pflugers Archiv : European journal of physiology · 2025Review
- Elevated phosphate levels in CKD - a direct threat for the heart.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Review
- Article
- Bone Marrow-Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In Pseudoxanthoma Elasticum.The Journal of investigative dermatology · 2024Article
- The Purinergic Nature of Pseudoxanthoma Elasticum.Biology · 2024Review
- A Novel Idiopathic Atrial Calcification: Pathologic Manifestations and Potential Mechanism.Frontiers in cardiovascular medicine · 2022Article
- Quantitative trait locus mapping identifies the Gpnmb gene as a modifier of mouse macrophage lysosome function.Scientific reports · 2021Article
- Hepatic transcriptional profile reveals the role of diet and genetic backgrounds on metabolic traits in female progenitor strains of the Collaborative Cross.Physiological genomics · 2021Article
- ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.International journal of molecular sciences · 2021Review
- Article
- IRF2BP2 3'UTR Polymorphism Increases Coronary Artery Calcification in Men.Frontiers in cardiovascular medicine · 2021Article
- Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis.Frontiers in cell and developmental biology · 2021Article
- Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis.International journal of molecular sciences · 2020Article
- Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions.Toxicology · 2020Review
- Arterial Stiffness: A Focus on Vascular Calcification and Its Link to Bone Mineralization.Arteriosclerosis, thrombosis, and vascular biology · 2020Review
- Microvasculopathy and soft tissue calcification in mice are governed by fetuin-A, magnesium and pyrophosphate.PloS one · 2020Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
The genetic factors contributing to the complex disorder of myocardial calcification are largely unknown. Using a mouse model, we fine-mapped the major locus (Dyscalc1) contributing to the dystrophic cardiac calcification (DCC) to an 840-kb interval containing 38 genes. We then identified the causal gene by using an approach integrating genetic segregation and expression array analyses to identify, on a global scale, cis-acting DNA variations that perturb gene expression. By studying two intercrosses, in which the DCC trait segregates, a single candidate gene (encoding the ATP-binding cassette transporter ABCC6) was identified. Transgenic complementation confirmed Abcc6 as the underlying causal gene for Dyscalc1. We demonstrate that in the cross, the expression of Abcc6 is highly correlated with the local mineralization regulatory system and the BMP2-Wnt signaling pathway known to be involved in the systemic regulation of calcification, suggesting potential pathways for the action of Abcc6 in DCC. Our results demonstrate the power of the integrative genomics in discovering causal genes and pathways underlying complex traits.
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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.