ArticleProceedings of the National Academy of Sciences of the United States of America2016
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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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
27 citing papers in PubMed, 33 citations in OpenAlex.
- Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026Review
- Bayliss-Starling Prize Lecture: KThe Journal of physiology · 2025Article
- Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.Function (Oxford, England) · 2024Article
- Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023Review
- Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KFunction (Oxford, England) · 2023Article
- A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.Journal of the American Heart Association · 2022Article
- KAmerican journal of physiology. Cell physiology · 2022Review
- Kir6.1 and SUR2B in Cantú syndrome.American journal of physiology. Cell physiology · 2022Review
- Elastin Insufficiency Confers Proximal and Distal Pulmonary Vasculopathy in Mice, Partially Remedied by the KFrontiers in cardiovascular medicine · 2022Article
- Case Report: Loss-of-FunctionFrontiers in genetics · 2022Article
- Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.JCI insight · 2021Article
- The Pharmacology of ATP-Sensitive KHandbook of experimental pharmacology · 2021Article
- Kir6.1-dependent KThe Journal of physiology · 2020Article
- The Pathophysiology of Cardiac Abnormalities in Cantu Syndrome: Perspective on "The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome".Function (Oxford, England) · 2020Article
- Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Article
- ABCC9-related Intellectual disability Myopathy Syndrome is a KNature communications · 2019Article
- Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.American journal of medical genetics. Part A · 2019Article
- Pulmonary Hypertension and ATP-Sensitive Potassium Channels.Hypertension (Dallas, Tex. : 1979) · 2019Review
- Functional protection against cardiac diseases depends on ATP-sensitive potassium channels.Journal of cellular and molecular medicine · 2018Review
- Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.Disease models & mechanisms · 2018Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) KATP channel subunits. We show that patients with CS, as well as mice with constitutive (cGOF) or tamoxifen-induced (icGOF) cardiac-specific Kir6.1 GOF subunit expression, have enlarged hearts, with increased ejection fraction and increased contractility. Whole-cell voltage-clamp recordings from cGOF or icGOF ventricular myocytes (VM) show increased basal L-type Ca(2+) current (LTCC), comparable to that seen in WT VM treated with isoproterenol. Mice with vascular-specific expression (vGOF) show left ventricular dilation as well as less-markedly increased LTCC. Increased LTCC in KATP GOF models is paralleled by changes in phosphorylation of the pore-forming α1 subunit of the cardiac voltage-gated calcium channel Cav1.2 at Ser1928, suggesting enhanced protein kinase activity as a potential link between increased KATP current and CS cardiac pathophysiology.
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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.