Associated Papers
Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.
Gao J et al.
The Journal of Biological Chemistry, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2021
Three-dimensional facial morphology in Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 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
Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents.
Houtman MJC et al.
Journal of Cellular and Molecular Medicine, 2019
Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.
Huang Y et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M et al.
Nature Genetics, 2012
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