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Select item 42778791.

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Paige E. Cooper, Heiko Reutter, Joachim Woelfle, Hartmut Engels, Dorothy K. Grange, Gijs van Haaften, Bregje W. van Bon, Alexander Hoischen, Colin G. Nichols

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 809–813. Published online 2014 May 6. doi: 10.1002/humu.22555

PMCID:: PMC4277879

Article PDF–661K

Select item 38654072.

The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews

Krishna R Veeramah, Tatiana M Karafet, Daniel Wolf, Ricardo A Samson, Michael F Hammer

Eur J Hum Genet. 2014 Jan; 22(1): 94–98. Published online 2013 May 1. doi: 10.1038/ejhg.2013.78

PMCID:: PMC3865407

Article PDF–2.4M

Select item 34585783.

A KCNJ8 mutation associated with early repolarization and atrial fibrillation

Jessica T. Delaney, Raafia Muhammad, Marcia A. Blair, Kaylen Kor, Frank A. Fish, Dan M. Roden, Dawood Darbar

Europace. 2012 Oct; 14(10): 1428–1432. Published online 2012 May 4. doi: 10.1093/europace/eus150

PMCID:: PMC3458578

Article PDF–200K

Select item 32881704.

Molecular Genetic and Functional Association of Brugada and Early Repolarization Syndromes with S422L Missense Mutation in KCNJ8

Hector Barajas-Martínez, Dan Hu, Tania Ferrer, Carlos G. Onetti, Yuesheng Wu, Elena Burashnikov, Madalene Boyle, Tyler Surman, Janire Urrutia, Christian Veltmann, Rainer Schimpf, Martin Borggrefe, Christian Wolpert, Bassiema B. Ibrahim, José Antonio Sánchez-Chapula, Stephen Winters, Michel Haïssaguerre, Charles Antzelevitch

Heart Rhythm. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Heart Rhythm. 2012 Apr; 9(4): 548–555. Published online 2011 Nov 3. doi: 10.1016/j.hrthm.2011.10.035

PMCID:: PMC3288170

Article PDF–4.0M

Select item 32815775.

Loss-of-Function Mutations in the KCNJ8-Encoded Kir6.1 K_ATP Channel and Sudden Infant Death Syndrome

David J. Tester, Bi-Hua Tan, Argelia Medeiros-Domingo, Chunhua Song, Jonathan C. Makielski, Michael J. Ackerman

Circ Cardiovasc Genet. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Circ Cardiovasc Genet. 2011 Oct; 4(5): 510–515. Published online 2011 Aug 11. doi: 10.1161/CIRCGENETICS.111.960195

PMCID:: PMC3281577

Article PDF–827K

Select item 15717006.

Block of human aorta Kir6.1 by the vascular K_ATP channel inhibitor U37883A

S Surah-Narwal, S Z Xu, D McHugh, R L McDonald, E Hough, A Cheong, C Partridge, A Sivaprasadarao, D J Beech

Br J Pharmacol. 1999 Oct; 128(3): 667–672. doi: 10.1038/sj.bjp.0702862

PMCID:: PMC1571700

Article PDF–190K

Select item 86940687.

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

Article PDF–3.1M

Select item 80417538.

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

Article PDF–1.3M

Select item 72171849.

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

Article PDF–2.4M

Select item 349283410.

Prolonged exposure to methylglyoxal causes disruption of vascular K_ATP channel by mRNA instability

Yang Yang, Shanshan Li, Anuhya S. Konduru, Shuang Zhang, Timothy C. Trower, Weiwei Shi, Ningren Cui, Lei Yu, Yali Wang, Daling Zhu, Chun Jiang

Am J Physiol Cell Physiol. 2012 Nov 15; 303(10): C1045–C1054. Published online 2012 Sep 12. doi: 10.1152/ajpcell.00020.2012

PMCID:: PMC3492834

Article

Select item 307131511.

Expression of ATP-sensitive potassium channels in human pregnant myometrium

Chen Xu, Xingji You, Lu Gao, Lanmei Zhang, Rong Hu, Ning Hui, David M Olson, Xin Ni

Reprod Biol Endocrinol. 2011; 9: 35. Published online 2011 Mar 21. doi: 10.1186/1477-7827-9-35

PMCID:: PMC3071315

Article PDF–887K

Select item 304990012.

Gain-of-Function Mutation, S422L, in the KCNJ8-Encoded Cardiac K_ATP Channel Kir6.1 as a Pathogenic Substrate for J Wave Syndromes

Argelia Medeiros-Domingo, Bi-Hua Tan, Lia Crotti, David J. Tester, Lee Eckhardt, Alessandra Cuoretti, Stacie L. Kroboth, Chunhua Song, Qing Zhou, Doug Kopp, Peter J. Schwartz, Jonathan C. Makielski, Michael J. Ackerman

Heart Rhythm. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Heart Rhythm. 2010 Oct; 7(10): 1466–1471. Published online 2010 Jun 15. doi: 10.1016/j.hrthm.2010.06.016

PMCID:: PMC3049900

Article PDF–1.0M

Select item 295555813.

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

Article PDF–583K

Select item 265228014.

Analysis of Two KCNJ11 Neonatal Diabetes Mutations, V59G and V59A, and the Analogous KCNJ8 I60G Substitution: DIFFERENCES BETWEEN THE CHANNEL SUBTYPES FORMED WITH SUR1

Marcus Winkler, Rebekka Lutz, Ulrich Russ, Ulrich Quast, Joseph Bryan

J Biol Chem. 2009 Mar 13; 284(11): 6752–6762. doi: 10.1074/jbc.M805435200

PMCID:: PMC2652280

Article PDF–1.1M

Select item 1465615.

A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits

Yi Cui, Jonathan P. Giblin, Lucie H. Clapp, Andrew Tinker

Proc Natl Acad Sci U S A. 2001 Jan 16; 98(2): 729–734. Published online 2001 Jan 2. doi: 10.1073/pnas.011370498

PMCID:: PMC14656

Article PDF–210K

Select item 297602016.

Interaction with caveolin-1 modulates vascular ATP-sensitive potassium (K_ATP) channel activity

Lowri M Davies, Gregor I Purves, Richard Barrett-Jolley, Caroline Dart

J Physiol. 2010 Sep 1; 588(Pt 17): 3255–3266. Published online 2010 Jul 12. doi: 10.1113/jphysiol.2010.194779

PMCID:: PMC2976020

Article PDF–492K

Select item 282345617.

Lipopolysaccharides Up-regulate Kir6.1/SUR2B Channel Expression and Enhance Vascular K_ATP Channel Activity via NF-κB-dependent Signaling

Weiwei Shi, Ningren Cui, Zhongying Wu, Yang Yang, Shuang Zhang, Hongyu Gai, Daling Zhu, Chun Jiang

J Biol Chem. 2010 Jan 29; 285(5): 3021–3029. Published online 2009 Dec 3. doi: 10.1074/jbc.M109.058313

PMCID:: PMC2823456

Article PDF–1.2M

Select item 565551518.

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

Article PDF–3.2M

Select item 376663119.

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Weizhen Ji, Jia Nee Foo, Brian J. O'Roak, Hongyu Zhao, Martin G. Larson, David B. Simon, Christopher Newton-Cheh, Matthew W. State, Daniel Levy, Richard P. Lifton

Nat Genet. Author manuscript; available in PMC 2013 Sep 8.

Published in final edited form as: Nat Genet. 2008 May; 40(5): 592–599. Published online 2008 Apr 6. doi: 10.1038/ng.118

PMCID:: PMC3766631

Article PDF–1.5M

Select item 633509920.

Blood-Brain Barrier: From Physiology to Disease and Back

Melanie D. Sweeney, Zhen Zhao, Axel Montagne, Amy R. Nelson, Berislav V. Zlokovic

Physiol Rev. 2019 Jan 1; 99(1): 21–78. Published online 2018 Oct 3. doi: 10.1152/physrev.00050.2017

PMCID:: PMC6335099

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