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
More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family's Medical Narrative.
Narbona-Arias I et al.
Journal of Clinical Medicine, 2025
Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.
Nygren D et al.
Jcem Case Reports, 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
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
Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function.
Davis MJ et al.
Function (oxford, England), 2023
Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.
Tran TNA et al.
American Journal of Medical Genetics. Part A, 2022
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
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
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
Eaton A et al.
Clinical Genetics, 2020
Cantu syndrome: A longitudinal review of vascular findings in three individuals.
Parrott A et al.
American Journal of Medical Genetics. Part A, 2020
Three-dimensional facial morphology in Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2020
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery.
Kurian C et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
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
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
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
Cantú Syndrome Associated with Ovarian Agenesis.
Fryssira H et al.
Molecular Syndromology, 2017
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
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
Bottillo I et al.
Gene, 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
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