Search Results - McClenaghan, Conor
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Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel by Cooper, Paige E., McClenaghan, Conor, Chen, Xingyu, Stary-Weinzinger, Anna, Nichols, Colin G.
Published 2017Text -
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Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms by McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., van Haaften, Gijs, Nichols, Colin G.
Published 2018Text -
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Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome by Scala, Rosa, Maqoud, Fatima, Zizzo, Nicola, Passantino, Giuseppe, Mele, Antonietta, Camerino, Giulia Maria, McClenaghan, Conor, Harter, Theresa M., Nichols, Colin G., Tricarico, Domenico
Published 2021Text -
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Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by K(ATP) channel overactivity by McClenaghan, Conor, Huang, Yan, Yan, Zihan, Harter, Theresa M., Halabi, Carmen M., Chalk, Rod, Kovacs, Attila, van Haaften, Gijs, Remedi, Maria S., Nichols, Colin G.
Published 2020Text -
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Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome by Scala, Rosa, Maqoud, Fatima, Zizzo, Nicola, Mele, Antonietta, Camerino, Giulia Maria, Zito, Francesco Alfredo, Ranieri, Girolamo, McClenaghan, Conor, Harter, Theresa M., Nichols, Colin G., Tricarico, Domenico
Published 2020Text -
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The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome by McClenaghan, Conor, Huang, Yan, Matkovich, Scot J, Kovacs, Attila, Weinheimer, Carla J, Perez, Ron, Broekelmann, Thomas J, Harter, Theresa M, Lee, Jin-Moo, Remedi, Maria S, Nichols, Colin G
Published 2020Text -
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Cardiovascular consequences of K(ATP) overactivity in Cantu syndrome by Huang, Yan, McClenaghan, Conor, Harter, Theresa M., Hinman, Kristina, Halabi, Carmen M., Matkovich, Scot J., Zhang, Haixia, Brown, G. Schuyler, Mecham, Robert P., England, Sarah K., Kovacs, Attila, Remedi, Maria S., Nichols, Colin G.
Published 2018Text -
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Sulfonylurea-insensitive permanent neonatal diabetes caused by a severe gain-of-function Tyr330His substitution in Kir6.2 by McClenaghan, Conor, Rapini, Novella, De Rose, Domenico Umberto, Gao, Jian, Roeglin, Jacob, Bizzarri, Carla, Schiaffini, Riccardo, Tiberi, Eloisa, Mucciolo, Mafalda, Deodati, Annalisa, Perri, Alessandro, Vento, Giovanni, Barbetti, Fabrizio, Nichols, Colin G., Cianfarani, Stefano
Published 2022Text -
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Bilayer-Mediated Structural Transitions Control Mechanosensitivity of the TREK-2 K2P Channel by Aryal, Prafulla, Jarerattanachat, Viwan, Clausen, Michael V., Schewe, Marcus, McClenaghan, Conor, Argent, Liam, Conrad, Linus J., Dong, Yin Y., Pike, Ashley C.W., Carpenter, Elisabeth P., Baukrowitz, Thomas, Sansom, Mark S.P., Tucker, Stephen J.
Published 2017Text -
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Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience by Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhu, Yung, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh, Roberts, Philip, Mervis, Jonathan, Biggin, Andrew, Nichols, Colin G.
Published 2019Text -
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Beta‐cell excitability and excitability‐driven diabetes in adult Zebrafish islets by Emfinger, Christopher H., Lőrincz, Réka, Wang, Yixi, York, Nathaniel W., Singareddy, Soma S., Ikle, Jennifer M., Tryon, Robert C., McClenaghan, Conor, Shyr, Zeenat A., Huang, Yan, Reissaus, Christopher A., Meyer, Dirk, Piston, David W., Hyrc, Krzysztof, Remedi, Maria S., Nichols, Colin G.
Published 2019Text -
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Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice by Zhang, Haixia, Hanson, Alex, de Almeida, Tobias Scherf, Emfinger, Christopher, McClenaghan, Conor, Harter, Theresa, Yan, Zihan, Cooper, Paige E., Brown, G. Schuyler, Arakel, Eric C., Mecham, Robert P., Kovacs, Atilla, Halabi, Carmen M., Schwappach, Blanche, Remedi, Maria S., Nichols, Colin G.
Published 2021Text -
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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry by Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V. A. M., Lee, Jin-Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., van Haelst, Mieke M., Nichols, Colin G., van Haaften, Gijs
Published 2019Text -
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K2P channel gating mechanisms revealed by structures of TREK-2 and a complex with Prozac by Dong, Yin Yao, Pike, Ashley C.W., Mackenzie, Alexandra, McClenaghan, Conor, Aryal, Prafulla, Dong, Liang, Quigley, Andrew, Grieben, Mariana, Goubin, Solenne, Mukhopadhyay, Shubhashish, Ruda, Gian Filippo, Clausen, Michael V., Cao, Lishuang, Brennan, Paul E., Burgess-Brown, Nicola A., Sansom, Mark S. P., Tucker, Stephen J., Carpenter, Elisabeth P.
Published 2015Text -
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ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9 by Smeland, Marie F., McClenaghan, Conor, Roessler, Helen I., Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H., Huang, Yan, Singareddy, Soma S., Gunn, Jamie, Wozniak, David F., Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M., Bakkers, Jeroen, Remedi, Maria S., Van Ghelue, Marijke, Nichols, Colin G., van Haaften, Gijs
Published 2019Text -
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Loss of Function ABCC8 Mutations in Pulmonary Arterial Hypertension by Bohnen, Michael S., Ma, Lijiang, Zhu, Na, Qi, Hongjian, McClenaghan, Conor, Gonzaga-Jauregui, Claudia, Dewey, Frederick E., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Baras, Aris, Sampson, Kevin J., Bleda, Marta, Hadinnapola, Charaka, Haimel, Matthias, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Corris, Paul A., Eyries, Mélanie, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Humbert, Marc, Guignabert, Christophe, Kiely, David G., Lawrie, Allan, MacKenzie Ross, Rob V., Martin, Jennifer M., Montani, David, Peacock, Andrew J., Pepke-Zaba, Joanna, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark, Treacy, Carmen M., Trembath, Richard C., Vonk Noordegraaf, Anton, Wharton, John, Wilkins, Martin R., Wort, Stephen J., Yates, Katherine, Gräf, Stefan, Morrell, Nicholas W., Krishnan, Usha, Rosenzweig, Erika B., Shen, Yufeng, Nichols, Colin G., Kass, Robert S., Chung, Wendy K.
Published 2018Text