Results 11 to 20 of about 1,142,948 (99)

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

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   +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

From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome

Diagnostics
Background and Clinical Significance: Cantú syndrome (OMIM #239850) is a rare autosomal dominant disorder caused by gain-of-function variants in ABCC9 or KCNJ8, which encode subunits of the ATP-sensitive potassium (KATP) channel.
Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Hsiang-Yu Lin, Shuan-Pei Lin   +8 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

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

Cantú syndrome with coexisting familial pituitary adenoma [PDF]

, 2018
Context: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome.
Mary N. Dang, David T. Bonthron, Spencer, R, Morrison, PJ, Rupert Spencer, Dang, MN, Ian M. Carr, Patrick J. Morrison, Hunter, S, Bonthron, DT, Korbonits, M, Carr, IM, Pedro Marques, Marques, P, Márta Korbonits, Steven Hunter   +15 more
core   +1 more source

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

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   +1 more source

Cantú Syndrome Associated with Ovarian Agenesis

, 2017
Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities.
Manolakos, E., Psoni, S., Lüdecke, H.-J., Amenta, S., Sofocleous, C., Fryssira, H., Czeschik, J.-C., Tsoutsou, E., Gavra, M.   +8 more
core   +3 more sources

Bisphosphonates Targeting Ion Channels and Musculoskeletal Effects

Frontiers in Pharmacology, 2022
Bisphosphonates (BPs) are the most used bone-specific anti-resorptive agents, often chosen as first-line therapy in several bone diseases characterized by an imbalance between osteoblast-mediated bone production and osteoclast-mediated bone resorption ...
Rosa Scala, Fatima Maqoud, Marina Antonacci, Jacopo Raffaele Dibenedetto, Maria Grazia Perrone, Antonio Scilimati, Karen Castillo, Karen Castillo, Ramón Latorre, Diana Conte, Saïd Bendahhou, Domenico Tricarico   +11 more
doaj   +1 more source

[Carta] 1885 jul. 4, [para] Darío Balandrano : [crítica a la obra del historiador César Cantú]

, 2011
El emisor hace algunas críticas y precisiones a la obra del historiador César Cantú, en especial a su "Biografía de Maximiliano"; El documento viene acompañado del manuscrito de un artículo titulado "El ilustre mexicano Benito Juárez y el notable ...
de Olavarría y Ferrari, Enrique
core   +10 more sources

Cantu syndrome and hypopituitarism: implications for endocrine monitoring

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   +1 more source