PMC Links for OMIM (Select 600150) - PMC

Select item 67857331.

Cole S. Bailey, Hans J. Moldenhauer, Su Mi Park, Sotirios Keros, Andrea L. Meredith

J Gen Physiol. 2019 Oct 7; 151(10): 1173–1189. Published online 2019 Aug 19. doi: 10.1085/jgp.201912457

PMCID:: PMC6785733

Select item 67358552.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Lina Liang, Xia Li, Sébastien Moutton, Samantha A Schrier Vergano, Benjamin Cogné, de Anne Saint-Martin, Anna C E Hurst, Yushuang Hu, Olaf Bodamer, Julien Thevenon, Christina Y Hung, Bertrand Isidor, Bénédicte Gerard, Adelaide Rega, Sophie Nambot, Daphné Lehalle, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Faivre, Stéphane Bézieau, Leon S Dure, Daniel C Helbling, David Bick, Chengqi Xu, Qiuyun Chen, Grazia M S Mancini, Antonio Vitobello, Qing Kenneth Wang

Hum Mol Genet. 2019 Sep 1; 28(17): 2937–2951. Published online 2019 May 15. doi: 10.1093/hmg/ddz117

PMCID:: PMC6735855

Abstract Article PDF–786K

Select item 60609733.

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram

Balkan Med J. 2018 Jul; 35(4): 336–339. Published online 2018 Jul 24. doi: 10.4274/balkanmedj.2017.0986

PMCID:: PMC6060973

Abstract Article PDF–958K

Select item 58390554.

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca²⁺ sensitivity

Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M. Snoeijen-Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein Willemsen, Qing Kenneth Wang

Eur J Hum Genet. 2018 Feb; 26(2): 220–229. Published online 2018 Jan 12. doi: 10.1038/s41431-017-0073-3

PMCID:: PMC5839055

Abstract Article PDF–1.2M

Select item 33566145.

BK potassium channel modulation by leucine-rich repeat-containing proteins

Jiusheng Yan, Richard W. Aldrich

Proc Natl Acad Sci U S A. 2012 May 15; 109(20): 7917–7922. Published online 2012 Apr 30. doi: 10.1073/pnas.1205435109

PMCID:: PMC3356614

Abstract Article PDF–1.1M

Select item 33190056.

Open Structure of the Ca²⁺ Gating Ring in the High-Conductance Ca²⁺-Activated K⁺ Channel

Peng Yuan, Manuel D. Leonetti, Yichun Hsiung, Roderick MacKinnon

Nature. Author manuscript; available in PMC 2012 Apr 4.

Published in final edited form as: Nature. 2011 Dec 4; 481(7379): 94–97. Published online 2011 Dec 4. doi: 10.1038/nature10670

PMCID:: PMC3319005

Abstract Article PDF–3.6M

Select item 30223457.

Structure of the Human BK Channel Ca²⁺-Activation Apparatus at 3.0 Å Resolution

Peng Yuan, Manuel D. Leonetti, Alexander R. Pico, Yichun Hsiung, Roderick MacKinnon

Science. Author manuscript; available in PMC 2011 Jan 18.

Published in final edited form as: Science. 2010 Jul 9; 329(5988): 182–186. Published online 2010 May 27. doi: 10.1126/science.1190414

PMCID:: PMC3022345

Abstract Article PDF–1.4M

Select item 29104258.

Structure of the Gating Ring from the Human High-conductance Ca²⁺-gated K⁺ Channel

Yunkun Wu, Yi Yang, Sheng Ye, Youxing Jiang

Nature. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nature. 2010 Jul 15; 466(7304): 393–397. Published online 2010 Jun 23. doi: 10.1038/nature09252

PMCID:: PMC2910425

Abstract Article PDF–1.1M

Select item 29093239.

BK calcium-activated potassium channels regulate circadian behavioral rhythms and pacemaker output

Andrea L Meredith, Steven W Wiler, Brooke H Miller, Joseph S Takahashi, Anthony A Fodor, Norman F Ruby, Richard W Aldrich

Nat Neurosci. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Nat Neurosci. 2006 Aug; 9(8): 1041–1049. Published online 2006 Jul 16. doi: 10.1038/nn1740

Correction in:: volume 9 on page 1193

PMCID:: PMC2909323

Abstract Article PDF–3.5M

Select item 209946210.

The large-conductance Ca²⁺-activated K⁺ channel is essential for innate immunity

Jatinder Ahluwalia, Andrew Tinker, Lucie H. Clapp, Michael R. Duchen, Andrey Y. Abramov, Simon Pope, Muriel Nobles, Anthony W. Segal

Nature. Author manuscript; available in PMC 2007 Nov 30.

Published in final edited form as: Nature. 2004 Feb 26; 427(6977): 853–858. doi: 10.1038/nature02356

Retraction in:: Nature. 2010 Nov 4; 468(7320): 122.

PMCID:: PMC2099462

Abstract Article

Select item 43900111.

Cerebellar ataxia and Purkinje cell dysfunction caused by Ca²⁺-activated K⁺ channel deficiency

M. Sausbier, H. Hu, C. Arntz, S. Feil, S. Kamm, H. Adelsberger, U. Sausbier, C. A. Sailer, R. Feil, F. Hofmann, M. Korth, M. J. Shipston, H.-G. Knaus, D. P. Wolfer, C. M. Pedroarena, J. F. Storm, P. Ruth

Proc Natl Acad Sci U S A. 2004 Jun 22; 101(25): 9474–9478. Published online 2004 Jun 11. doi: 10.1073/pnas.0401702101

PMCID:: PMC439001

Abstract Article PDF–428K

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