Associated Papers
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.
Kleinendorst L et al.
American Journal of Medical Genetics. Part A, 2026
Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.
Scala R et al.
The Journal of General Physiology, 2025
Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome.
Maqoud F et al.
Frontiers in Medicine, 2025
A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.
Gao J et al.
American Journal of Medical Genetics. Part A, 2024
Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.
Hanson A et al.
Function (oxford, England), 2024
Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.
Gao J et al.
The Journal of Pharmacology and Experimental Therapeutics, 2023
Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.
Hanson A et al.
Biorxiv : the Preprint Server for Biology, 2023
A New Unified Theory of Trigger Point Formation: Failure of Pre- and Post-Synaptic Feedback Control Mechanisms.
Gerwin RD
International Journal of Molecular Sciences, 2023
Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent KATP Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome.
Scala R et al.
Cells, 2023
Personalized Therapeutics for KATP-Dependent Pathologies.
Nichols CG
Annual Review of Pharmacology and Toxicology, 2023
Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function.
Davis MJ et al.
Function (oxford, England), 2023
Kir6.1 and SUR2B in Cantú syndrome.
McClenaghan C et al.
American Journal of Physiology. Cell Physiology, 2022
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2021
Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.
Scala R et al.
Cells, 2021
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
Zhang H et al.
Jci Insight, 2021
Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome.
York NW et al.
Jci Insight, 2020
Three-dimensional facial morphology in Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2020
Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.
McClenaghan C et al.
The Journal of Clinical Investigation, 2020
The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome.
McClenaghan C et al.
Function (oxford, England), 2020
Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome.
Scala R et al.
Frontiers in Pharmacology, 2020
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.
Huang Y et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Huang Y et al.
Jci Insight, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
Cooper PE et al.
The Journal of General Physiology, 2015
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Liu J et al.
Nature Communications, 2014
Cantú syndrome is caused by mutations in ABCC9.
van Bon BW et al.
American Journal of Human Genetics, 2012