246 related articles for article (PubMed ID: 21493816)
1. 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. PubMed ID: 21493816
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17582433
[TBL] [Abstract][Full Text] [Related]
3. Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.
Ballester LY; Benson DW; Wong B; Law IH; Mathews KD; Vanoye CG; George AL
Hum Mutat; 2006 Apr; 27(4):388. PubMed ID: 16541386
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 26103554
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 23644778
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 21148745
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 17221872
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22589293
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 20111058
[TBL] [Abstract][Full Text] [Related]
10. Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.
Scheiper S; Hertel B; Beckmann BM; Kääb S; Thiel G; Kauferstein S
BMC Med Genet; 2017 Oct; 18(1):113. PubMed ID: 29017447
[TBL] [Abstract][Full Text] [Related]
11. 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; 565(Pt 3):731-41. PubMed ID: 15831539
[TBL] [Abstract][Full Text] [Related]
12. Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.
Bendahhou S; Fournier E; Gallet S; Ménard D; Larroque MM; Barhanin J
Hum Mol Genet; 2007 Apr; 16(8):900-6. PubMed ID: 17324964
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 19931173
[TBL] [Abstract][Full Text] [Related]
14. Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.
Modoni A; Bianchi ML; Vitulano N; Pagliarani S; Perna F; Sanna T; Rizzo V; Silvestri G
Cardiology; 2011; 120(4):200-3. PubMed ID: 22286118
[TBL] [Abstract][Full Text] [Related]
15. 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; 82(12):1058-64. PubMed ID: 24574546
[TBL] [Abstract][Full Text] [Related]
16. [QTU pattern in a patient with the Anderson-Tawil syndrome].
Ciurzyński M; Bienias P; Kostera-Pruszczyk A; Pruszczyk P
Kardiol Pol; 2010 Mar; 68(3):339-41; discussion 342. PubMed ID: 20411461
[TBL] [Abstract][Full Text] [Related]
17. 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; 93(4):666-73. PubMed ID: 22155372
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 16571646
[TBL] [Abstract][Full Text] [Related]
19. 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; 65(7):1083-9. PubMed ID: 16217063
[TBL] [Abstract][Full Text] [Related]
20. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
Zhang L; Benson DW; Tristani-Firouzi M; Ptacek LJ; Tawil R; Schwartz PJ; George AL; Horie M; Andelfinger G; Snow GL; Fu YH; Ackerman MJ; Vincent GM
Circulation; 2005 May; 111(21):2720-6. PubMed ID: 15911703
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
