Results 1 to 10 of about 2,019 (101)

Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings [PDF]

Clinical Case Reports
This case emphasizes the importance of comprehensive orthodontic and sleep evaluations in Cantù syndrome. Despite severe dento‐skeletal malocclusions, the patient exhibited low risk of obstructive sleep apnea (PSQ score
Federica Guglielmi, Anna Alessandri Bonetti, Benedetta Nuzzo, Patrizia Gallenzi   +3 more
doaj   +3 more sources

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature [PDF]

BMC Pediatrics, 2023
Background Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities.
Falastine Daas, Punita Gupta, Fuad Kiblawi   +2 more
doaj   +2 more sources

Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function [PDF]

Function, 2023
Cantú Syndrome (CS) is an autosomal dominant disorder caused by gain-of-function (GoF) mutations in the Kir6.1 and SUR2 subunits of KATP channels.
Michael J Davis, Jorge A Castorena-Gonzalez, Hae Jin Kim, Min Li, Maria Remedi, Colin G Nichols   +5 more
doaj   +2 more sources

A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with decreased systolic and/or diastolic ventricular function.
Gautam K. Singh, Conor McClenaghan, Manish Aggarwal, Hongjie Gu, Maria S. Remedi, Dorothy K. Grange, Colin G. Nichols   +6 more
doaj   +2 more sources

Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent K_ATP Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome [PDF]

Cells, 2023
Cantú syndrome (CS) is caused by the gain of function mutations in the ABCC9 and KCNJ8 genes encoding, respectively, for the sulfonylureas receptor type 2 (SUR2) and the inwardly rectifier potassium channel 6.1 (Kir6.1) of the ATP-sensitive potassium ...
Rosa Scala, Fatima Maqoud, Conor McClenaghan, Theresa M. Harter, Maria Grazia Perrone, Antonio Scilimati, Colin G. Nichols, Domenico Tricarico   +7 more
doaj   +2 more sources

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome [PDF]

Cells, 2021
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K+ (KATP) channel subunits SUR2 and Kir6.1, respectively.
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico   +9 more
doaj   +2 more sources

Cantu syndrome and hypopituitarism: implications for endocrine monitoring [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2019
Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features.
Nicholas J Theis, Toby Calvert, Peter McIntyre, Stephen P Robertson, Benjamin J Wheeler   +4 more
doaj   +2 more sources

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome [PDF]

Scientific Reports
This study explores the efficacy of glibenclamide, a KATP channel inhibitor, for treating Cantú syndrome (CS), a genetic disorder characterized by hypertrichosis and cardiovascular abnormalities.
Lotte Kleinendorst, Sarah E. Siegelaar, Helen I. Roessler, Lema Meiwand, Malou van den Boogaard, Rianne H.A.C.M. de Bruin-Bon, Kirsten F. van Duinen, R. Nils Planken, Elisabeth H. Jaspars, Patrick M.J.H. Kemperman, Berto J. Bouma, Colin G. Nichols, Marcel W. Bekkenk, Gijs W. van Haaften, Mieke M. van Haelst   +14 more
doaj   +2 more sources

Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice [PDF]

JCI Insight, 2021
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by ...
Haixia Zhang, Alex Hanson, Tobias Scherf de Almeida, Christopher Emfinger, Conor McClenaghan, Theresa Harter, Zihan Yan, Paige E. Cooper, G. Schuyler Brown, Eric C. Arakel, Robert P. Mecham, Atilla Kovacs, Carmen M. Halabi, Blanche Schwappach, Maria S. Remedi, Colin G. Nichols   +15 more
doaj   +2 more sources

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome [PDF]

JCI Insight
Cantú syndrome is a multisystem disorder caused by gain-of-function (GOF) mutations in KCNJ8 and ABCC9, the genes encoding the pore-forming inward rectifier Kir6.1 and regulatory sulfonylurea receptor SUR2B subunits, respectively, of vascular ATP ...
Elsayed Metwally, Alfredo Sanchez Solano, Boris Lavanderos, Evan Yamasaki, Pratish Thakore, Conor McClenaghan, Natalia Rios, Rafael Radi, Yumei Feng Earley, Colin G. Nichols, Scott Earley   +10 more
doaj   +2 more sources