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Items: 1 to 20 of 142

1.

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
2.

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

Decher N, Renigunta V, Zuzarte M, Soom M, Heinemann SH, Timothy KW, Keating MT, Daut J, Sanguinetti MC, Splawski I.

Cardiovasc Res. 2007 Sep 1;75(4):748-57. Epub 2007 May 10.

PMID:
17568571
3.

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.

4.

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T, Tsuji K, Ono S, Nishio Y, Shimizu W, Inoue T, Murakami T, Tsuboi N, Yamanouchi H, Ushinohama H, Nakamura Y, Yoshinaga M, Horigome H, Aizawa Y, Kita T, Horie M.

Hum Mutat. 2007 Feb;28(2):208.

PMID:
17221872
5.

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
6.

Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.

Marrus SB, Cuculich PS, Wang W, Nerbonne JM.

Channels (Austin). 2011 Nov-Dec;5(6):500-9. doi: 10.4161/chan.5.6.18524. Epub 2011 Nov 1.

7.

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

Choi BO, Kim J, Suh BC, Yu JS, Sunwoo IN, Kim SJ, Kim GH, Chung KW.

J Hum Genet. 2007;52(3):280-3. Epub 2007 Jan 9.

PMID:
17211524
8.

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
9.

Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.

Vega AL, Tester DJ, Ackerman MJ, Makielski JC.

Circ Arrhythm Electrophysiol. 2009 Oct;2(5):540-7. doi: 10.1161/CIRCEP.109.872309. Epub 2009 Aug 25.

10.

A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.

Chan HF, Chen ML, Su JJ, Ko LC, Lin CH, Wu RM.

J Hum Genet. 2010 Mar;55(3):186-8. doi: 10.1038/jhg.2010.2. Epub 2010 Jan 29.

PMID:
20111058
11.

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP.

Neurology. 2014 Mar 25;82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26.

PMID:
24574546
12.

Phenotype variability in patients carrying KCNJ2 mutations.

Kimura H, Zhou J, Kawamura M, Itoh H, Mizusawa Y, Ding WG, Wu J, Ohno S, Makiyama T, Miyamoto A, Naiki N, Wang Q, Xie Y, Suzuki T, Tateno S, Nakamura Y, Zang WJ, Ito M, Matsuura H, Horie M.

Circ Cardiovasc Genet. 2012 Jun;5(3):344-53. doi: 10.1161/CIRCGENETICS.111.962316. Epub 2012 May 15.

13.

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

Lu CW, Lin JH, Rajawat YS, Jerng H, Rami TG, Sanchez X, DeFreitas G, Carabello B, DeMayo F, Kearney DL, Miller G, Li H, Pfaffinger PJ, Bowles NE, Khoury DS, Towbin JA.

J Med Genet. 2006 Aug;43(8):653-9. Epub 2006 Mar 29.

14.

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.

15.

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.

16.

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, Mueller R, Hilton-Jones D, Ealing J, Boothman BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat-Rott K, Lehmann-Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG.

Neurology. 2005 Oct 11;65(7):1083-9.

PMID:
16217063
17.

Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome.

Ballester LY, Vanoye CG, George AL Jr.

Channels (Austin). 2007 May-Jun;1(3):209-17. Epub 2007 Jul 20.

PMID:
18690034
18.

Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.

Lim BC, Kim GB, Bae EJ, Noh CI, Hwang H, Kim KJ, Hwang YS, Ko TS, Chae JH.

J Child Neurol. 2010 Apr;25(4):490-3. doi: 10.1177/0883073809357937.

PMID:
20382953
19.

Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome.

Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P.

Ann Noninvasive Electrocardiol. 2013 Sep;18(5):471-8. doi: 10.1111/anec.12074.

PMID:
24047492
20.

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

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