ArticleAmerican journal of medical genetics. Part A2019
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Article in American journal of medical genetics. Part A, 2019. 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
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 33 citations in OpenAlex.
- Treatment of overactive KScientific reports · 2025Trial
- Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026Review
- From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome.Diagnostics (Basel, Switzerland) · 2026Article
- Potassium channels in vascular smooth muscle cells.Physiological reviews · 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
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KThe Journal of pharmacology and experimental therapeutics · 2023Article
- Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023Review
- A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.The Journal of general physiology · 2023Article
- Overactive ATP-Sensitive KFunction (Oxford, England) · 2023Article
- Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KFunction (Oxford, England) · 2023Article
- KAmerican journal of physiology. Cell physiology · 2022Review
- Kir6.1 and SUR2B in Cantú syndrome.American journal of physiology. Cell physiology · 2022Review
- Channelopathy Genes in Pulmonary Arterial Hypertension.Biomolecules · 2022Review
- Involvement of SUR2/Kir6.1 channel in the physiopathology of pulmonary arterial hypertension.Frontiers in cardiovascular medicine · 2022Article
- Bisphosphonates Targeting Ion Channels and Musculoskeletal Effects.Frontiers in pharmacology · 2022Review
- Smouldering fire or conflagration? An illustrated update on the concept of inflammation in pulmonary arterial hypertension.European respiratory review : an official journal of the European Respiratory Society · 2021Review
- Vascular KProceedings of the National Academy of Sciences of the United States of America · 2021Article
- Behavioral and cognitive functioning in individuals with Cantú syndrome.American journal of medical genetics. Part A · 2021Article
- Young adult with Cantú syndrome: dealing with a rare genetic skin disorder.BMJ case reports · 2021Article
- Implication of Potassium Channels in the Pathophysiology of Pulmonary Arterial Hypertension.Biomolecules · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
Cantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and KCNJ8 genes. These genes encode gain-of-function mutations in the regulatory (SUR2) and pore-forming (Kir6.1) subunits of K
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What OpenQuestion holds
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.