Disease: Cantu syndrome
- "Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes
- A Cantu syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation
- A new type of ATP-sensitive potassium channelopathy : Cantu syndrome
- A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1
- A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantu syndrome
- A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome
- ABCC9-related Intellectual disability Myopathy Syndrome is a K<sub>ATP</sub> channelopathy with loss-of-function mutations in ABCC9
- Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection
- Analysis of SARS-CoV-2 RNA Persistence across Indoor Surface Materials Reveals Best Practices for Environmental Monitoring Programs
- Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype
- Approach to the Patient With Pseudoacromegaly
- Associations between near end-of-life flortaucipir PET and postmortem CTE-related tau neuropathology in six former American football players
- ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle
- ATP-sensitive potassium channels: key players in pathophysiology of many diseases
- Author Correction: Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible
- Behavioral and cognitive functioning in individuals with Cantu syndrome
- Bisphosphonates Targeting Ion Channels and Musculoskeletal Effects
- Cantu syndrome and hypopituitarism: implications for endocrine monitoring
- Cantu syndrome as a rare cause of pericardial effusion in a young woman
- Cantu Syndrome Associated with Ovarian Agenesis
- Cantu syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
- Cantu syndrome with coexisting familial pituitary adenoma
- Cantu syndrome with novel pathogenic variant in nucleotide-binding domain 1 of ABCC9
- Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms
- Cantu syndrome, the changing phenotype: a report of the two oldest Dutch patients
- Cantu syndrome: A longitudinal review of vascular findings in three individuals
- Cantu syndrome: A new case and evolution of clinical conditions during first 2-year follow-up
- Cantu syndrome: Findings from 74 patients in the International Cantu Syndrome Registry
- Cantu syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature
- Cardiovascular consequences of KATP overactivity in Cantu syndrome
- Case Report: Loss-of-Function <em>ABCC9</em> Genetic Variant Associated With Ventricular Fibrillation
- Characterization of compliance phenotypes in COVID-19 acute respiratory distress syndrome
- Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantu Syndrome
- Clinical utility gene card for: Cantu syndrome
- Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice
- Computational Identification of Novel Kir6 Channel Inhibitors
- Consensus statement on concussion in sport: the 6th International Conference on Concussion in Sport-Amsterdam, October 2022
- Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome
- Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel
- Corrigendum: A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantu syndrome
- Demographic and clinical characteristics of pediatric COVID-19 in Arkansas: March-December 2020
- Development of I<sub>KATP</sub> Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant K<sub>IR</sub>6.2 Based Channels for Treating DEND Syndrome
- Dilated and tortuous retinal vessels as a sign of Cantu syndrome
- Diverse clinical manifestations of Cantu syndrome: The first case series in Vietnam
- Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
- Efficacy of the mRNA-1273 SARS-CoV-2 Vaccine at Completion of Blinded Phase
- Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations
- Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations
- Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
- Factors Associated With Severity of Delirium Complicating COVID-19 in Intensive Care Units
- Fertility counseling in women with hereditary cancer syndromes
- Generalized hypertrichosis syndromes in Mexico
- Glibenclamide and HMR1098 normalize Cantu syndrome-associated gain-of-function currents
- Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity
- Glibenclamide treatment in a Cantu syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience
- Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K<sup>+</sup> channel subunits in cancers: role in drug-disease interactions
- Increased tolerance to stress in cardiac expressed gain-of-function of adenosine triphosphate-sensitive potassium channel subunit Kir6.1
- Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma
- K<sub>ATP</sub> channels in lymphatic function
- Kir6.1 and SUR2B in Cantu syndrome
- Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantu syndrome
- Kir6.1-dependent K<sub>ATP</sub> channels in lymphatic smooth muscle and vessel dysfunction in mice with Kir6.1 gain-of-function
- Longitudinal Postvaccine SARS-CoV-2 Immunoglobulin G Titers, Memory B-Cell Responses, and Risk of COVID-19 in Multiple Sclerosis Over 1 Year
- Lymphatic contractile dysfunction in mouse models of Cantu Syndrome with K(ATP) channel gain-of-function
- Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with K<sub>ATP</sub> channel gain-of-function
- Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
- Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantu syndrome
- Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature
- Neurologic and neuroimaging manifestations of Cantu syndrome: A case series
- Novel mutation in <em>ABBC9</em> gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
- Novel variants of ABCC9 in Japanese children with Cantu syndrome
- Outcomes of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome
- Overactive ATP-Sensitive K(+) Channels Compromise Lymphatic Contractile Function in Cantu Syndrome
- Overactive ATP-Sensitive K<sup>+</sup> Channels Compromise Lymphatic Contractile Function in Cantú Syndrome
- P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2
- Pancytopenia and haematopoietic precursor vacuolisation in an infant: Clues to Pearson syndrome
- Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantu Syndrome
- Personalized Therapeutics for K<sub>ATP</sub>-Dependent Pathologies
- Primary graft dysfunction after lung transplantation
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantu Syndrome K(ATP) Channel Mutations in Intact Cells
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub> Channel Mutations in Intact Cells
- SARS-CoV-2 Distribution in Residential Housing Suggests Contact Deposition and Correlates with <em>Rothia</em> sp
- SARS-CoV-2 Distribution in Residential Housing Suggests Contact Deposition and Correlates with <em>Rothia</em> sp
- Serious complication of low-dose oral minoxidil for hair loss
- Sex differences in the amygdaloid projections to the ventrolateral periaqueductal gray and their activation during inflammatory pain in the rat
- Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
- Superior Mesenteric Artery Syndrome: A Community Hospital Case Series
- The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantu Syndrome
- The Pathophysiology of Cardiac Abnormalities in Cantu Syndrome: Perspective on "The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantu Syndrome"
- The Role of Ion Channels in Functional Gastrointestinal Disorders (FGID): Evidence of Channelopathies and Potential Avenues for Future Research and Therapeutic Targets
- The surprising complexity of KATP channel biology and of genetic diseases
- Three-dimensional facial morphology in Cantu syndrome
- Tryptophan-Kynurenine Pathway in COVID-19-Dependent Musculoskeletal Pathology: A Minireview
- Updates in molecular genetics of therapy-related myeloid neoplasms
- Vascular K<sub>ATP</sub> channel structural dynamics reveal regulatory mechanism by Mg-nucleotides
- You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery
- Young adult with Cantu syndrome: dealing with a rare genetic skin disorder
- Zinc as a Neuroprotective Nutrient for COVID-19-Related Neuropsychiatric Manifestations: A Literature Review
- Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent K(ATP) Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantu Syndrome
- Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent K<sub>ATP</sub> Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome