296 related articles for article (PubMed ID: 17582433)
21. 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]
22. 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. PubMed ID: 20382953
[TBL] [Abstract][Full Text] [Related]
23. Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
Kostera-Pruszczyk A; Potulska-Chromik A; Pruszczyk P; Bieganowska K; Miszczak-Knecht M; Bienias P; Szczałuba K; Lee HY; Quinn E; Ploski R; Kaminska A; Ptáček LJ
Muscle Nerve; 2015 Feb; 51(2):192-6. PubMed ID: 24861851
[TBL] [Abstract][Full Text] [Related]
24. [A new type of periodic paralysis: Andersen-Tawil syndrome].
Pouget J
Bull Acad Natl Med; 2008 Nov; 192(8):1551-6; discussion 1556-7. PubMed ID: 19445372
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Functional roles of charged amino acid residues on the wall of the cytoplasmic pore of Kir2.1.
Fujiwara Y; Kubo Y
J Gen Physiol; 2006 Apr; 127(4):401-19. PubMed ID: 16533896
[TBL] [Abstract][Full Text] [Related]
27. Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome.
Ballester LY; Vanoye CG; George AL
Channels (Austin); 2007; 1(3):209-17. PubMed ID: 18690034
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. 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):280-283. PubMed ID: 17211524
[TBL] [Abstract][Full Text] [Related]
31. KCNJ2 variant of unknown significance reclassified as long QT syndrome causing ventricular fibrillation.
Obeyesekere MN; Klein GJ; Conacher S; Krahn AD
Can J Cardiol; 2011; 27(6):870.e11-3. PubMed ID: 21875779
[TBL] [Abstract][Full Text] [Related]
32. Andersen-Tawil syndrome: clinical and molecular aspects.
Nguyen HL; Pieper GH; Wilders R
Int J Cardiol; 2013 Dec; 170(1):1-16. PubMed ID: 24383070
[TBL] [Abstract][Full Text] [Related]
33. Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.
Fodstad H; Swan H; Auberson M; Gautschi I; Loffing J; Schild L; Kontula K
J Mol Cell Cardiol; 2004 Aug; 37(2):593-602. PubMed ID: 15276028
[TBL] [Abstract][Full Text] [Related]
34. Low-affinity spermine block mediating outward currents through Kir2.1 and Kir2.2 inward rectifier potassium channels.
Ishihara K; Yan DH
J Physiol; 2007 Sep; 583(Pt 3):891-908. PubMed ID: 17640933
[TBL] [Abstract][Full Text] [Related]
35. Andersen-Tawil syndrome: definition of a neurocognitive phenotype.
Yoon G; Quitania L; Kramer JH; Fu YH; Miller BL; Ptácek LJ
Neurology; 2006 Jun; 66(11):1703-10. PubMed ID: 16769944
[TBL] [Abstract][Full Text] [Related]
36. Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.
Marrus SB; Cuculich PS; Wang W; Nerbonne JM
Channels (Austin); 2011; 5(6):500-9. PubMed ID: 22186697
[TBL] [Abstract][Full Text] [Related]
37. Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M; Etheridge SP
Pflugers Arch; 2010 Jul; 460(2):289-94. PubMed ID: 20306271
[TBL] [Abstract][Full Text] [Related]
38. Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.
Fukumura S; Yamauchi K; Kawanabe A; Yamamoto A; Nakaza M; Kubota T; Kato S; Sasaki R; Okamura Y; Takahashi MP
J Neurol Sci; 2019 Dec; 407():116521. PubMed ID: 31669729
[TBL] [Abstract][Full Text] [Related]
39. 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. PubMed ID: 19843922
[TBL] [Abstract][Full Text] [Related]
40. 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; 59(2):321-7. PubMed ID: 12909315
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
