ArticleHuman mutation2014
Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
What it found
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Who cites it
73 citing papers in PubMed, 113 citations in OpenAlex.
- Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026Review
- Potassium channels in vascular smooth muscle cells.Physiological reviews · 2026Review
- Ion Channels as Gatekeepers of Fertility: From Uterine Kir7.1 to Sperm CatSper.Physiology (Bethesda, Md.) · 2026Review
- Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.The Journal of general physiology · 2025Article
- PIP2-driven cytoplasmic domain motions are coupled to Kir2 channel gating.The Journal of general physiology · 2025Article
- Bayliss-Starling Prize Lecture: KThe Journal of physiology · 2025Article
- Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.JCEM case reports · 2025Article
- Characterization of four structurally diverse inhibitors of SUR2-containing KChannels (Austin, Tex.) · 2024Article
- Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.JCI insight · 2024Article
- Discovery and Characterization of VU0542270, the First Selective Inhibitor of Vascular Kir6.1/SUR2B KMolecular pharmacology · 2024Article
- Identification of a novelFrontiers in genetics · 2024Article
- Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.BMC pediatrics · 2023Review
- Wnt signaling regulates ion channel expression to promote smooth muscle and cartilage formation in developing mouse trachea.American journal of physiology. Lung cellular and molecular physiology · 2023Article
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KThe Journal of pharmacology and experimental therapeutics · 2023Article
- Wnt signaling regulates ion channel expression to promote smooth muscle and cartilage formation in developing mouse trachea.bioRxiv : the preprint server for biology · 2023Article
- Article
- Preclinical Ultrasonography in Rodent Models of Neuromuscular Disorders: The State of the Art for Diagnostic and Therapeutic Applications.International journal of molecular sciences · 2023Review
- Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.European journal of human genetics : EJHG · 2023Article
- Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023Review
- Oxidation Driven Reversal of PIPFunction (Oxford, England) · 2023Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues. Mutations in ABCC9 cause Cantú syndrome (CS), a distinct multiorgan disease, potentially via enhanced KATP channel activity. We screened KCNJ8 in an ABCC9 mutation-negative patient who also exhibited clinical hallmarks of CS (hypertrichosis, macrosomia, macrocephaly, coarse facial appearance, cardiomegaly, and skeletal abnormalities). We identified a de novo missense mutation encoding Kir6.1[p.Cys176Ser] in the patient. Kir6.1[p.Cys176Ser] channels exhibited markedly higher activity than wild-type channels, as a result of reduced ATP sensitivity, whether coexpressed with SUR1 or SUR2A subunits. Our results identify a novel causal gene in CS, but also demonstrate that the cardinal features of the disease result from gain of KATP channel function, not from a Kir6-independent SUR2 function.
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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.