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Select item 99055901.

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9

Jian Gao, Conor McClenaghan, Imke Christiaans, Marielle Alders, Kirsten van Duinen, Mieke M. van Haelst, Gijs van Haaften, Colin G. Nichols

Eur J Hum Genet. 2023 Feb; 31(2): 188–194. Published online 2022 Nov 7. doi: 10.1038/s41431-022-01210-x

PMCID:: PMC9905590

Abstract Article PDF–2.4M

Select item 58908822.

The ATPase activities of SUR2A and SUR2B are influenced by the C-terminal 42 amino acids

Heidi de Wet, Constantina Fotinou, Nawaz Amad, Matthias Dreger, Frances M. Ashcroft

FEBS J. Author manuscript; available in PMC 2018 Apr 9.

Published in final edited form as: FEBS J. 2010 Jun; 277(12): 2654–2662. doi: 10.1111/j.1742-464X.2010.07675.x

PMCID:: PMC5890882

Abstract Article PDF–1.1M

Select item 58087653.

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K_ATP channel gain-of-function by differential mechanisms

Conor McClenaghan, Alex Hanson, Monica Sala-Rabanal, Helen I. Roessler, Dragana Josifova, Dorothy K. Grange, Gijs van Haaften, Colin G. Nichols

J Biol Chem. 2018 Feb 9; 293(6): 2041–2052. Published online 2017 Dec 22. doi: 10.1074/jbc.RA117.000351

PMCID:: PMC5808765

Abstract Article PDF–2.8M

Select item 56555154.

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel

Paige E. Cooper, Conor McClenaghan, Xingyu Chen, Anna Stary-Weinzinger, Colin G. Nichols

J Biol Chem. 2017 Oct 20; 292(42): 17387–17398. Published online 2017 Aug 23. doi: 10.1074/jbc.M117.804971

PMCID:: PMC5655515

Abstract Article PDF–3.2M

Select item 49796255.

Altered K_ATP Channel Subunits Expression and Vascular Reactivity in Spontaneously Hypertensive Rats With Age

Xiaojing Liu, Peng Duan, Xingxing Hu, Ruisheng Li, Qinglei Zhu

J Cardiovasc Pharmacol. 2016 Aug; 68(2): 143–149. Published online 2016 Apr 1. doi: 10.1097/FJC.0000000000000394

PMCID:: PMC4979625

Abstract Article PDF–388K

Select item 46648276.

Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the K_ATP channel

Paige E. Cooper, Monica Sala-Rabanal, Sun Joo Lee, Colin G. Nichols

J Gen Physiol. 2015 Dec; 146(6): 527–540. doi: 10.1085/jgp.201511495

PMCID:: PMC4664827

Abstract Article PDF–3.0M

Select item 46136877.

Molecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity

Mohammad Fatehi, Chris R.J. Carter, Nermeen Youssef, Beth E. Hunter, Andrew Holt, Peter E. Light

Biosci Rep. 2015 Aug; 35(4): e00238. Prepublished online 2015 Jul 7. Published online 2015 Aug 18. doi: 10.1042/BSR20150143

PMCID:: PMC4613687

Abstract Article PDF–1.2M

Select item 45662428.

Phosphorylation-dependent Changes in Nucleotide Binding, Conformation, and Dynamics of the First Nucleotide Binding Domain (NBD1) of the Sulfonylurea Receptor 2B (SUR2B)

Elvin D. de Araujo, Claudia P. Alvarez, Jorge P. López-Alonso, Clarissa R. Sooklal, Marijana Stagljar, Voula Kanelis

J Biol Chem. 2015 Sep 11; 290(37): 22699–22714. Published online 2015 Jul 21. doi: 10.1074/jbc.M114.636233

PMCID:: PMC4566242

Abstract Article PDF–9.8M

Select item 39478699.

ABCC9 is a Novel Brugada and Early Repolarization Syndrome Susceptibility Gene

Dan Hu, Hector Barajas-Martínez, Andre Terzic, Sungjo Park, Ryan Pfeiffer, Elena Burashnikov, Yuesheng Wu, Martin Borggrefe, Christian Veltmann, Rainer Schimpf, John J. Cai, Gi-Byong Nam, Pramod Deshmukh, Melvin Scheinman, Mark Preminger, Jonathan Steinberg, Angélica López-Izquierdo, Daniela Ponce-Balbuena, Christian Wolpert, Michel Haïssaguerre, José Antonio Sánchez-Chapula, Charles Antzelevitch

Int J Cardiol. Author manuscript; available in PMC 2015 Feb 15.

Published in final edited form as: Int J Cardiol. 2014 Feb 15; 171(3): 431–442. Published online 2014 Jan 4. doi: 10.1016/j.ijcard.2013.12.084

PMCID:: PMC3947869

Abstract Article PDF–4.7M

Select item 359947910.

Tetrameric structure of SUR2B revealed by electron microscopy of oriented single particles

Constantina Fotinou, Jussi Aittoniemi, Heidi Wet, Ange Polidori, Bernard Pucci, Mark S P Sansom, Catherine Vénien-Bryan, Frances M Ashcroft

FEBS J. 2013 Feb; 280(4): 1051–1063. Published online 2013 Jan 27. doi: 10.1111/febs.12097

PMCID:: PMC3599479

Abstract Article PDF–882K

Select item 357322911.

Testosterone protects female embryonic heart H9c2 cells against severe metabolic stress by activating estrogen receptors and up-regulating IES SUR2B

Thomas Ballantyne, Qingyou Du, Sofija Jovanović, Andrew Neemo, Robert Holmes, Sharabh Sinha, Aleksandar Jovanović

Int J Biochem Cell Biol. 2013 Feb; 45(2): 283–291. doi: 10.1016/j.biocel.2012.10.005

PMCID:: PMC3573229

Abstract Article

Select item 327442412.

Increase of ATP-sensitive potassium (K_ATP) channels in the heart of type-1 diabetic rats

Zhih-Cherng Chen, Yung-Ze Cheng, Li-Jen Chen, Kai-Chun Cheng, Yin- Xiao Li, Juei- Tang Cheng

Cardiovasc Diabetol. 2012; 11: 8. Published online 2012 Jan 18. doi: 10.1186/1475-2840-11-8

PMCID:: PMC3274424

Abstract Article PDF–1.2M

Select item 317805913.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 306620814.

Activation of cGMP-Dependent Protein Kinase Stimulates Cardiac ATP-Sensitive Potassium Channels via a ROS/Calmodulin/CaMKII Signaling Cascade

Yongping Chai, Dai-Min Zhang, Yu-Fung Lin

PLoS One. 2011; 6(3): e18191. Published online 2011 Mar 29. doi: 10.1371/journal.pone.0018191

PMCID:: PMC3066208

Abstract Article PDF–1.7M

Select item 295734615.

Cardiomyocyte sulfonylurea receptor 2-K_ATP channel mediates cardioprotection and ST segment elevation

Douglas A. Stoller, John P. Fahrenbach, Karel Chalupsky, Bi-Hua Tan, Nitin Aggarwal, Jamie Metcalfe, Michele Hadhazy, Nian-Qing Shi, Jonathan C. Makielski, Elizabeth M. McNally

Am J Physiol Heart Circ Physiol. 2010 Oct; 299(4): H1100–H1108. Published online 2010 Jul 23. doi: 10.1152/ajpheart.00084.2010