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Select item 86310041.

Behavioral and cognitive functioning in individuals with Cantú syndrome

Helen I. Roessler, Lieke M. van der Heuvel, Kathleen Shields, Kristin P. Guilliams, Nine V.A.M. Knoers, Gijs van Haaften, Dorothy K. Grange, Mieke M. van Haelst

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Am J Med Genet A. 2021 Aug; 185(8): 2434–2444. Published online 2021 May 30. doi: 10.1002/ajmg.a.62348

PMCID:: PMC8631004

Abstract Article PDF–261K

Select item 68995982.

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

Alan Ma, Sunita Gurnasinghani, Edwin P. Kirk, Conor McClenaghan, Gautam K. Singh, Dorothy K. Grange, Chetan Pandit, Yung Zhu, Tony Roscioli, George Elakis, Michael Buckley, Bhavesh Mehta, Philip Roberts, Jonathan Mervis, Andrew Biggin, Colin G. Nichols

Am J Med Genet A. 2019 Aug; 179(8): 1585–1590. Published online 2019 Jun 7. doi: 10.1002/ajmg.a.61200

PMCID:: PMC6899598

Abstract Article PDF–1.3M

Select item 72171843.

Three‐dimensional facial morphology in Cantú syndrome

Helen I. Roessler, Kathleen Shields, Dorothy K. Grange, Nine V.A.M. Knoers, Gijs van Haaften, Peter Hammond, Mieke M. van Haelst

Am J Med Genet A. 2020 May; 182(5): 1041–1052. Published online 2020 Feb 26. doi: 10.1002/ajmg.a.61517

PMCID:: PMC7217184

Abstract Article PDF–2.4M

Select item 73467324.

Glibenclamide and HMR1098 normalize Cantú syndrome‐associated gain‐of‐function currents

Marien J. C. Houtman, Xingyu Chen, Muge Qile, Karen Duran, Gijs van Haaften, Anna Stary‐Weinzinger, Marcel A. G. van der Heyden

J Cell Mol Med. 2019 Aug; 23(8): 4962–4969. Published online 2019 May 22. doi: 10.1111/jcmm.14329

PMCID:: PMC7346732

Abstract Article PDF–1.5M

Select item 74462475.

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

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

Function (Oxf) 2020; 1(1): zqaa004. Published online 2020 Jun 18. doi: 10.1093/function/zqaa004

PMCID:: PMC7446247

Abstract Article PDF–1.0M

Select item 76542236.

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

Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S. Remedi, Nine V. A. M. Knoers, Jin-Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah F. Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2020 Nov 10.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 658–681. doi: 10.1002/ajmg.c.31753

PMCID:: PMC7654223

Abstract Article PDF–2.2M

Select item 77144097.

Kir6.1- and SUR2-dependent K_ATP overactivity disrupts intestinal motility in murine models of Cantú syndrome

Nathaniel W. York, Helen Parker, Zili Xie, David Tyus, Maham Akbar Waheed, Zihan Yan, Dorothy K. Grange, Maria Sara Remedi, Sarah K. England, Hongzhen Hu, Colin G. Nichols

JCI Insight. 2020 Dec 3; 5(23): e141443. Published online 2020 Nov 10. doi: 10.1172/jci.insight.141443

PMCID:: PMC7714409

Abstract Article PDF–11M

Select item 77343378.

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

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

Front Pharmacol. 2020; 11: 604885. Published online 2020 Nov 30. doi: 10.3389/fphar.2020.604885

PMCID:: PMC7734337

Abstract Article PDF–2.7M

Select item 80211069.

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

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

JCI Insight. 2021 Mar 8; 6(5): e145934. Published online 2021 Mar 8. doi: 10.1172/jci.insight.145934

PMCID:: PMC8021106

Abstract Article PDF–1.4M

Select item 827614310.

Young adult with Cantú syndrome: dealing with a rare genetic skin disorder

Helen I Roessler, Gijs van Haaften, Mieke M van Haelst

BMJ Case Rep. 2021; 14(7): e243118. Published online 2021 Jul 12. doi: 10.1136/bcr-2021-243118

PMCID:: PMC8276143

Abstract Article PDF–264K

Select item 337028611.

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor, Martine Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A. Veltman, Stephen P. Robertson, Han G. Brunner, Bert B.A. de Vries, Alexander Hoischen

Am J Hum Genet. 2012 Jun 8; 90(6): 1094–1101. doi: 10.1016/j.ajhg.2012.04.014

PMCID:: PMC3370286

Abstract Article PDF–356K

Select item 1073186512.

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

Falastine Daas, Punita Gupta, Fuad Kiblawi

BMC Pediatr. 2023; 23: 644. Published online 2023 Dec 19. doi: 10.1186/s12887-023-04446-8

PMCID:: PMC10731865

Abstract Article PDF–1.0M

Select item 1044909913.

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K_ATP Channel Mutations in Intact Cells

Jian Gao, Conor McClenaghan, Kenneth A. Matreyek, Dorothy K. Grange, Colin G. Nichols

J Pharmacol Exp Ther. 2023 Sep; 386(3): 298–309. Published online 2023 Sep. doi: 10.1124/jpet.123.001659

PMCID:: PMC10449099

Abstract Article PDF–2.1M

Select item 946747614.

Kir6.1 and SUR2B in Cantú syndrome

Conor McClenaghan, Colin G. Nichols

Am J Physiol Cell Physiol. 2022 Sep 1; 323(3): C920–C935. Published online 2022 Jul 25. doi: 10.1152/ajpcell.00154.2022

PMCID:: PMC9467476

Abstract Article

Select item 961470515.

A Cantú syndrome mutation produces dual effects on K_ATP channels by disrupting ankyrin B regulation

Teresa Crespo-García, Marcos Rubio-Alarcón, Anabel Cámara-Checa, María Dago, Josu Rapún, Paloma Nieto-Marín, María Marín, Jorge Cebrián, Juan Tamargo, Eva Delpón, Ricardo Caballero

J Gen Physiol. 2023 Jan 2; 155(1): e202112995. Published online 2022 Oct 26. doi: 10.1085/jgp.202112995

PMCID:: PMC9614705

Abstract Article PDF–4.7M

Select item 979882016.

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

Gautam K. Singh, Conor McClenaghan, Manish Aggarwal, Hongjie Gu, Maria S. Remedi, Dorothy K. Grange, Colin G. Nichols

J Am Heart Assoc. 2022 Dec 20; 11(24): e027363. Published online 2022 Dec 14. doi: 10.1161/JAHA.122.027363

PMCID:: PMC9798820

Abstract Article PDF–1.5M

Select item 990559017.

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 997996918.

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena

Clin Case Rep. 2023 Mar; 11(3): e6928. Published online 2023 Mar 2. doi: 10.1002/ccr3.6928

PMCID:: PMC9979969

Abstract Article PDF–1.0M

Select item 1032717019.

Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations

Alex Hanson, Conor McClenaghan, Kuo-Chan Weng, Sarah Colijn, Amber N. Stratman, Carmen M. Halabi, Dorothy K. Grange, Jonathan R. Silva, Colin G. Nichols

Version 1. bioRxiv. Preprint. 2023 Jul 1. doi: 10.1101/2023.06.29.547088