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Items: 1 to 20 of 138

1.

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.

2.

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.

3.

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.

4.

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
5.

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
6.

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.

7.

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.

8.

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.

9.

KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.

Eckhardt LL, Farley AL, Rodriguez E, Ruwaldt K, Hammill D, Tester DJ, Ackerman MJ, Makielski JC.

Heart Rhythm. 2007 Mar;4(3):323-9. Epub 2006 Nov 10.

10.

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
11.

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.

12.

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
13.

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
14.

Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome.

Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M.

Curr Cardiol Rev. 2014 Aug;10(3):222-8. Review.

15.

Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).

Tully I, Atherton J, Hunt L, Ingles J, Semsarian C, McGaughran J.

Int J Cardiol. 2015 Dec 15;201:473-5. doi: 10.1016/j.ijcard.2015.07.069. Epub 2015 Aug 10. No abstract available.

PMID:
26322597
16.

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
17.

Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome.

Kim JB, Chung KW.

Pediatr Neurol. 2009 Dec;41(6):464-6. doi: 10.1016/j.pediatrneurol.2009.07.010.

PMID:
19931173
18.

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
19.

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
20.

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

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