Results 21 to 30 of about 1,142,948 (99)

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

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   +1 more source

A Case Report of Cantu Syndrome Highlighting the Importance of Genetic Sequencing in Addition to Radiological Testing [PDF]

Journal of Clinical and Diagnostic Research
An infant initially suspected to have glutaric aciduria was later diagnosed with Cantu syndrome and found to be a carrier of Congenital Disorder of Glycosylation Type 1j.
Sriranjani Srinivasan, Revathi Nachiappan, Sivakumar Krishnaswamy Vijayaramanujam, Jayakumar Muthaiyan   +3 more
doaj   +1 more source

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

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   +1 more source

Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions

Frontiers in Pharmacology, 2023
Background: ATP-sensitive-K+ channels (KATP) are involved in diseases, but their role in cancer is poorly described. Pituitary macroadenoma has been observed in Cantu’ syndrome (C.S.), which is associated with the gain-of-function mutations of the ABCC9 ...
Fatima Maqoud, Fatima Maqoud, Nicola Zizzo, Marcella Attimonelli, Antonella Tinelli, Giuseppe Passantino, Marina Antonacci, Girolamo Ranieri, Domenico Tricarico   +8 more
doaj   +1 more source

Computational Identification of Novel Kir6 Channel Inhibitors

Frontiers in Pharmacology, 2019
KATP channels consist of four Kir6.x pore–forming subunits and four regulatory sulfonylurea receptor (SUR) subunits. These channels couple the metabolic state of the cell to membrane excitability and play a key role in physiological processes such as ...
Xingyu Chen, Arthur Garon, Marcus Wieder, Marien J. C. Houtman, Eva-Maria Zangerl-Plessl, Thierry Langer, Marcel A. G. van der Heyden, Marcel A. G. van der Heyden, Anna Stary-Weinzinger   +8 more
doaj   +1 more source

The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome

Function, 2020
Dramatic cardiomegaly arising from gain-of-function (GoF) mutations in the ATP-sensitive potassium (KATP) channels genes, ABCC9 and KCNJ8, is a characteristic feature of Cantú syndrome (CS).
Conor McClenaghan, Yan Huang, Scot J Matkovich, Attila Kovacs, Carla J Weinheimer, Ron Perez, Thomas J Broekelmann, Theresa M Harter, Jin-Moo Lee, Maria S Remedi, Colin G Nichols   +10 more
doaj   +1 more source

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry [PDF]

, 2019
Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (KATP) channels, respectively.
Nine V. A. M. Knoers, Gautam K. Singh, van Haelst, Mieke M., van Haaften, Gijs, Colin G. Nichols, Sarah F. Smithson, Kirk, Edwin P., Nichols, Colin G., Remedi, Maria S., Kathleen Shields, Lee, Jin-Moo, Maria S. Remedi, Mieke M. van Haelst, Smithson, Sarah F., Edwin P. Kirk, Dorothy K. Grange, Singh, Gautam K., Ingrid Scurr, Scurr, Ingrid, Roessler, Helen I., Knoers, Nine V. A. M., McClenaghan, Conor, Lee, Jin Moo, Grange, Dorothy K., Helen I. Roessler, Karen Duran, Conor McClenaghan, Duran, Karen, Shields, Kathleen, Jin‐Moo Lee, Gijs van Haaften, Knoers, Nine V.A.M.   +31 more
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Behavioral and cognitive functioning in individuals with Cantú syndrome [PDF]

, 2021
Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore-forming subunits of ATP-sensitive potassium (KATP ) channels.
Grange, Dorothy K, Nine V. A. M. Knoers, van Haelst, Mieke M., Dorothy K. Grange, van Haaften, Gijs, Roessler, Helen I, Roessler, Helen I., Knoers, Nine V. A. M., Grange, Dorothy K., van Der Heuvel, Lieke M., Guilliams, Kristin P., Helen I. Roessler, van der Heuvel, Lieke M, Kristin P. Guilliams, Guilliams, Kristin P, Kathleen Shields, Shields, Kathleen, Mieke M. van Haelst, van Haelst, Mieke M, Knoers, Nine V A M, Lieke M. van der Heuvel, Gijs van Haaften, Knoers, Nine V.A.M.   +22 more
core   +2 more sources

Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome

Frontiers in Pharmacology, 2020
Cantù syndrome (CS) arises from mutations in ABCC9 and KCNJ8 genes that lead to gain of function (GOF) of ATP-sensitive potassium (KATP) channels containing SUR2A and Kir6.1 subunits, respectively, of KATP channels.
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Antonietta Mele, Giulia Maria Camerino, Francesco Alfredo Zito, Girolamo Ranieri, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico   +10 more
doaj   +1 more source

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Disease Models & Mechanisms, 2018
The zebrafish (Danio rerio) has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic development.
Federico Tessadori, Helen I. Roessler, Sanne M. C. Savelberg, Sonja Chocron, Sarah M. Kamel, Karen J. Duran, Mieke M. van Haelst, Gijs van Haaften, Jeroen Bakkers   +8 more
doaj   +1 more source