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Items: 1 to 20 of 159

1.

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.

Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M, Kita T, Horie M, Kimura T.

Cardiovasc Res. 2012 Mar 15;93(4):666-73. doi: 10.1093/cvr/cvr329. Epub 2011 Dec 8.

PMID:
22155372
2.

Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome.

Casini S, Postma AV.

Cardiovasc Res. 2012 Mar 15;93(4):535-6. doi: 10.1093/cvr/cvs084. Epub 2012 Feb 5. No abstract available.

PMID:
22311718
3.

T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.

Tani Y, Miura D, Kurokawa J, Nakamura K, Ouchida M, Shimizu K, Ohe T, Furukawa T.

J Mol Cell Cardiol. 2007 Aug;43(2):187-96. Epub 2007 May 18.

PMID:
17582433
4.

Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling.

Adeniran I, El Harchi A, Hancox JC, Zhang H.

Cardiovasc Res. 2012 Apr 1;94(1):66-76. doi: 10.1093/cvr/cvs082. Epub 2012 Feb 2.

PMID:
22308236
5.

Atrial proarrhythmia due to increased inward rectifier current (I(K1)) arising from KCNJ2 mutation--a simulation study.

Kharche S, Garratt CJ, Boyett MR, Inada S, Holden AV, Hancox JC, Zhang H.

Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):186-97. doi: 10.1016/j.pbiomolbio.2008.10.010. Epub 2008 Nov 9.

PMID:
19041665
6.

KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia.

Kalscheur MM, Vaidyanathan R, Orland KM, Abozeid S, Fabry N, Maginot KR, January CT, Makielski JC, Eckhardt LL.

Heart Rhythm. 2014 May;11(5):885-94. doi: 10.1016/j.hrthm.2014.02.015. Epub 2014 Feb 21.

7.

KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia.

Deo M, Ruan Y, Pandit SV, Shah K, Berenfeld O, Blaufox A, Cerrone M, Noujaim SF, Denegri M, Jalife J, Priori SG.

Proc Natl Acad Sci U S A. 2013 Mar 12;110(11):4291-6. doi: 10.1073/pnas.1218154110. Epub 2013 Feb 25.

8.

A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.

Doi T, Makiyama T, Morimoto T, Haruna Y, Tsuji K, Ohno S, Akao M, Takahashi Y, Kimura T, Horie M.

Circ Cardiovasc Genet. 2011 Jun;4(3):253-60. doi: 10.1161/CIRCGENETICS.110.958157. Epub 2011 Apr 14.

9.

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.

Ördög B, Hategan L, Kovács M, Seprényi G, Kohajda Z, Nagy I, Hegedűs Z, Környei L, Jost N, Katona M, Szekeres M, Forster T, Papp JG, Varró A, Sepp R.

Can J Physiol Pharmacol. 2015 Jul;93(7):569-75. doi: 10.1139/cjpp-2014-0527. Epub 2015 Apr 17.

PMID:
26103554
10.

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome.

Hosaka Y, Hanawa H, Washizuka T, Chinushi M, Yamashita F, Yoshida T, Komura S, Watanabe H, Aizawa Y.

J Mol Cell Cardiol. 2003 Apr;35(4):409-15.

PMID:
12689820
11.

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.

Ballester LY, Benson DW, Wong B, Law IH, Mathews KD, Vanoye CG, George AL Jr.

Hum Mutat. 2006 Apr;27(4):388.

PMID:
16541386
12.

Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

Lange PS, Er F, Gassanov N, Hoppe UC.

Cardiovasc Res. 2003 Aug 1;59(2):321-7.

PMID:
12909315
13.

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.

Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M.

Circulation. 2002 Jun 4;105(22):2592-4.

14.

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.

Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J.

Circ Res. 2005 Apr 15;96(7):800-7. Epub 2005 Mar 10.

15.

Flecainide increases Kir2.1 currents by interacting with cysteine 311, decreasing the polyamine-induced rectification.

Caballero R, Dolz-Gaitón P, Gómez R, Amorós I, Barana A, González de la Fuente M, Osuna L, Duarte J, López-Izquierdo A, Moraleda I, Gálvez E, Sánchez-Chapula JA, Tamargo J, Delpón E.

Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15631-6. doi: 10.1073/pnas.1004021107. Epub 2010 Aug 16.

16.

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.

Barajas-Martinez H, Hu D, Ontiveros G, Caceres G, Desai M, Burashnikov E, Scaglione J, Antzelevitch C.

Circ Cardiovasc Genet. 2011 Feb;4(1):51-7. doi: 10.1161/CIRCGENETICS.110.957696. Epub 2010 Dec 10.

17.

HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.

Paulussen AD, Raes A, Jongbloed RJ, Gilissen RA, Wilde AA, Snyders DJ, Smeets HJ, Aerssens J.

Cardiovasc Res. 2005 Aug 15;67(3):467-75.

PMID:
15958262
18.

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

Limberg MM, Zumhagen S, Netter MF, Coffey AJ, Grace A, Rogers J, Böckelmann D, Rinné S, Stallmeyer B, Decher N, Schulze-Bahr E.

Basic Res Cardiol. 2013 May;108(3):353. doi: 10.1007/s00395-013-0353-1. Epub 2013 May 5.

PMID:
23644778
19.

Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study.

Sung RJ, Wu SN, Wu JS, Chang HD, Luo CH.

Am J Physiol Heart Circ Physiol. 2006 Dec;291(6):H2597-605. Epub 2006 Jul 28.

20.

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

Bendahhou S, Fournier E, Sternberg D, Bassez G, Furby A, Sereni C, Donaldson MR, Larroque MM, Fontaine B, Barhanin J.

J Physiol. 2005 Jun 15;565(Pt 3):731-41. Epub 2005 Apr 14.

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