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
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
Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.
Xu C et al.
Genome Research, 2024
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
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
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Yüksel Ülker A et al.
American Journal of Medical Genetics. Part A, 2023
Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up.
Mattiucci A et al.
Clinical Case Reports, 2023
A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.
Crespo-García T et al.
The Journal of General Physiology, 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
Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.
Tran TNA et al.
American Journal of Medical Genetics. Part A, 2022
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2021
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
Zhang H et al.
Jci Insight, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
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
Cantu syndrome and hypopituitarism: implications for endocrine monitoring.
Theis NJ et al.
Endocrinology, Diabetes & Metabolism Case Reports, 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
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.
McClenaghan C et al.
The Journal of Biological Chemistry, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.
Leon Guerrero CR et al.
Neurology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
Czeschik JC et al.
American Journal of Medical Genetics. Part A, 2013
Cantú syndrome is caused by mutations in ABCC9.
van Bon BW et al.
American Journal of Human Genetics, 2012
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M et al.
Nature Genetics, 2012
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
Afifi HH et al.
Pediatric Dermatology, 0