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Select item 110681061.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan

Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010

PMCID:: PMC11068106

Abstract Article PDF–1.0M

Select item 77573722.

Novel cholesterol‐dependent regulation of cardiac K_ATP subunit expression revealed using histone deacetylase inhibitors

Robert Geiger, Naheed Fatima, James F. Schooley, Jr., Jeremy T. Smyth, Mark C. Haigney, Thomas P. Flagg

Physiol Rep. 2021 Jan; 8(24): e14675. Published online 2020 Dec 23. doi: 10.14814/phy2.14675

PMCID:: PMC7757372

Abstract Article PDF–1.3M

Select item 53852713.

Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2

Yuriko Katsumata, Peter T. Nelson, Sally R. Ellingson, David W. Fardo

Neurobiol Aging. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Neurobiol Aging. 2017 May; 53: 193.e17–193.e25. Published online 2017 Jan 9. doi: 10.1016/j.neurobiolaging.2017.01.003

PMCID:: PMC5385271

Abstract Article PDF–1.4M

Select item 46611244.

ABCC9/SUR2 in the brain: implications for hippocampal sclerosis of aging and a potential therapeutic target

Peter T. Nelson, Gregory A. Jicha, Wang-Xia Wang, Eseosa Ighodaro, Sergey Artiushin, Colin G. Nichols, David W. Fardo

Ageing Res Rev. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Ageing Res Rev. 2015 Nov; 24(0 0): 111–125. Published online 2015 Jul 28. doi: 10.1016/j.arr.2015.07.007

PMCID:: PMC4661124

Abstract Article PDF–3.8M

Select item 33702865.

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 31259866.

Muscle K_ATP Channels: Recent Insights to Energy Sensing and Myoprotection

Thomas P. Flagg, Decha Enkvetchakul, Joseph C. Koster, Colin G. Nichols

Physiol Rev. Author manuscript; available in PMC 2011 Jun 29.

Published in final edited form as: Physiol Rev. 2010 Jul; 90(3): 799–829. doi: 10.1152/physrev.00027.2009

PMCID:: PMC3125986

Abstract Article PDF–1024K

Select item 28839277.

Human K_ATP channelopathies: diseases of metabolic homeostasis

Timothy M. Olson, Andre Terzic

Pflugers Arch. 2010; 460(2): 295–306. Published online 2009 Dec 24. doi: 10.1007/s00424-009-0771-y

PMCID:: PMC2883927

Abstract Article PDF–248K

Select item 28133408.

Cardiac sarcolemmal K_ATP channels: Latest twists in a questing tale!

Haixia Zhang, Thomas P. Flagg, Colin G. Nichols

J Mol Cell Cardiol. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: J Mol Cell Cardiol. 2010 Jan; 48(1): 71. Published online 2009 Jul 14. doi: 10.1016/j.yjmcc.2009.07.002

PMCID:: PMC2813340

Abstract Article PDF–302K

Select item 22311499.

Intracellular nucleotide-mediated gating of SUR/Kir6.0 complex potassium channels expressed in a mammalian cell line and its modification by pinacidil

Eisaku Satoh, Mitsuhiko Yamada, Chikako Kondo, Vez P Repunte, Yoshiyuki Horio, Toshihiko Iijima, Yoshihisa Kurachi

J Physiol. 1998 Sep 15; 511(Pt 3): 663–674. doi: 10.1111/j.1469-7793.1998.663bg.x

PMCID:: PMC2231149

Abstract Article PDF–553K

Select item 157160510.

Structural requirements of sulphonylureas and analogues for interaction with sulphonylurea receptor subtypes

Miriam Meyer, Franz Chudziak, Christina Schwanstecher, Mathias Schwanstecher, Uwe Panten

Br J Pharmacol. 1999 Sep; 128(1): 27–34. doi: 10.1038/sj.bjp.0702763

PMCID:: PMC1571605

Abstract Article PDF–251K

Select item 156547611.

SUR2 subtype (A and B)-dependent differential activation of the cloned ATP-sensitive K⁺ channels by pinacidil and nicorandil

Takashi Shindo, Mitsuhiko Yamada, Shojiro Isomoto, Yoshiyuki Horio, Yoshihisa Kurachi

Br J Pharmacol. 1998 Jul; 124(5): 985–991. doi: 10.1038/sj.bjp.0701927

PMCID:: PMC1565476

Summary PDF–349K

Select item 117088112.

Potassium channel openers require ATP to bind to and act through sulfonylurea receptors.

M Schwanstecher, C Sieverding, H Dörschner, I Gross, L Aguilar-Bryan, C Schwanstecher, J Bryan

EMBO J. 1998 Oct 1; 17(19): 5529–5535. doi: 10.1093/emboj/17.19.5529

PMCID:: PMC1170881

Summary PDF–285K

Select item 869406813.

Vascular K_ATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides

Min Woo Sung, Zhongying Yang, Camden M. Driggers, Bruce L. Patton, Barmak Mostofian, John D. Russo, Daniel M. Zuckerman, Show-Ling Shyng

Proc Natl Acad Sci U S A. 2021 Nov 2; 118(44): e2109441118. Published online 2021 Oct 28. doi: 10.1073/pnas.2109441118

PMCID:: PMC8694068

Abstract Article PDF–3.1M

Select item 830736414.

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome

Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico

Cells. 2021 Jul; 10(7): 1791. Published online 2021 Jul 15. doi: 10.3390/cells10071791

PMCID:: PMC8307364

Abstract Article PDF–4.3M

Select item 804175315.

The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia

Benlan Yin, Yujiao Zhang, Xiaohong Wei, Chunrong Pang, Ting Hou, Chao Yang, Yuzhi Ning, Xiaodong Fu

Sci Rep. 2021; 11: 7955. Published online 2021 Apr 12. doi: 10.1038/s41598-021-87146-6

PMCID:: PMC8041753

Abstract Article PDF–1.3M

Select item 721718416.

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 466482717.

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 394786918.

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 295555819.

Human oocytes express ATP-sensitive K⁺ channels

Qingyou Du, Sofija Jovanović, Andriy Sukhodub, Evelyn Barratt, Ellen Drew, Katherine M. Whalley, Vanessa Kay, Marie McLaughlin, Evelyn E. Telfer, Christopher L.R. Barratt, Aleksandar Jovanović

Hum Reprod. 2010 Nov; 25(11): 2774–2782. Published online 2010 Sep 16. doi: 10.1093/humrep/deq245

PMCID:: PMC2955558

Abstract Article PDF–583K

Select item 199543820.

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K_ATP channel gating

Martin Bienengraeber, Timothy M Olson, Vitaliy A Selivanov, Eva C Kathmann, Fearghas O’Cochlain, Fan Gao, Amy B Karger, Jeffrey D Ballew, Denice M Hodgson, Leonid V Zingman, Yuan-Ping Pang, Alexey E Alekseev, Andre Terzic

Nat Genet. Author manuscript; available in PMC 2007 Oct 1.

Published in final edited form as: Nat Genet. 2004 Apr; 36(4): 382–387. Published online 2004 Mar 21. doi: 10.1038/ng1329

PMCID:: PMC1995438

Abstract Article PDF–2.3M

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PMC Links for Gene (Select 10060) (42)
PMC
Homo sapiens cDNA clone MGC:15478 IMAGE:2967661, complete cds
Homo sapiens cDNA clone MGC:15478 IMAGE:2967661, complete cds
gi|14714579|gb|BC010426.1|

Nucleotide
PREDICTED: Mus musculus ORC ubiquitin ligase 1 (Obi1), transcript variant X1, mR...
PREDICTED: Mus musculus ORC ubiquitin ligase 1 (Obi1), transcript variant X1, mRNA
gi|1907105562|ref|XM_036158857.1|

Nucleotide
Homo sapiens cDNA FLJ30052 fis, clone ADRGL1000067
Homo sapiens cDNA FLJ30052 fis, clone ADRGL1000067
gi|16549190|dbj|AK054614.1|

Nucleotide
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4...
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4930542N03 product:hypothetical Glycerophosphoryl diester phosphodiesterase containing protein, full insert sequence
gi|12854600|dbj|AK016023.1|

Nucleotide

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