246 related articles for article (PubMed ID: 21493816)
21. Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
Déri S; Borbás J; Hartai T; Hategan L; Csányi B; Visnyovszki Á; Madácsy T; Maléth J; Hegedűs Z; Nagy I; Arora R; Labro AJ; Környei L; Varró A; Sepp R; Ördög B
Cardiovasc Res; 2021 Jul; 117(8):1923-1934. PubMed ID: 32810216
[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. 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]
24. The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.
Schmitt N; Calloe K; Nielsen NH; Buschmann M; Speckmann EJ; Schulze-Bahr E; Schwarz M
Biochem Biophys Res Commun; 2007 Jun; 358(1):304-10. PubMed ID: 17482572
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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. PubMed ID: 12689820
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. [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]
30. 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]
31. 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]
32. Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism.
Hasegawa K; Ohno S; Kimura H; Itoh H; Makiyama T; Yoshida Y; Horie M
Clin Genet; 2015 Mar; 87(3):279-83. PubMed ID: 24635491
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Sudden cardiac death in Andersen-Tawil syndrome.
Peters S; Schulze-Bahr E; Etheridge SP; Tristani-Firouzi M
Europace; 2007 Mar; 9(3):162-6. PubMed ID: 17272325
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Atrial fibrillation-associated minK38G/S polymorphism modulates delayed rectifier current and membrane localization.
Ehrlich JR; Zicha S; Coutu P; Hébert TE; Nattel S
Cardiovasc Res; 2005 Aug; 67(3):520-8. PubMed ID: 16039273
[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. Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents.
Park SS; Ponce-Balbuena D; Kuick R; Guerrero-Serna G; Yoon J; Mellacheruvu D; Conlon KP; Basrur V; Nesvizhskii AI; Jalife J; Rual JF
Mol Cell Proteomics; 2020 Sep; 19(9):1436-1449. PubMed ID: 32541000
[TBL] [Abstract][Full Text] [Related]
39. Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.
Liu XL; Huang XJ; Luan XH; Zhou HY; Wang T; Wang JY; Shen JY; Chen SD; Tang HD; Cao L
J Neurol Sci; 2015 May; 352(1-2):105-6. PubMed ID: 25847018
[No Abstract] [Full Text] [Related]
40. Andersen's syndrome mutants produce a knockdown of inwardly rectifying K
Simkin D; Robin G; Giuliano S; Vukolic A; Moceri P; Guy N; Wagner KD; Lacampagne A; Allard B; Bendahhou S
Cell Tissue Res; 2018 Feb; 371(2):309-323. PubMed ID: 29018970
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
