These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 12045162)

  • 1. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.
    Ai T; Fujiwara Y; Tsuji K; Otani H; Nakano S; Kubo Y; Horie M
    Circulation; 2002 Jun; 105(22):2592-4. PubMed ID: 12045162
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.
    Preisig-Müller R; Schlichthörl G; Goerge T; Heinen S; Brüggemann A; Rajan S; Derst C; Veh RW; Daut J
    Proc Natl Acad Sci U S A; 2002 May; 99(11):7774-9. PubMed ID: 12032359
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
    Plaster NM; Tawil R; Tristani-Firouzi M; Canún S; Bendahhou S; Tsunoda A; Donaldson MR; Iannaccone ST; Brunt E; Barohn R; Clark J; Deymeer F; George AL; Fish FA; Hahn A; Nitu A; Ozdemir C; Serdaroglu P; Subramony SH; Wolfe G; Fu YH; Ptácek LJ
    Cell; 2001 May; 105(4):511-9. PubMed ID: 11371347
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
    Tristani-Firouzi M; Jensen JL; Donaldson MR; Sansone V; Meola G; Hahn A; Bendahhou S; Kwiecinski H; Fidzianska A; Plaster N; Fu YH; Ptacek LJ; Tawil R
    J Clin Invest; 2002 Aug; 110(3):381-8. PubMed ID: 12163457
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 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. PubMed ID: 16571646
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 17341397
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. [Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)].
    Lucet V; Lupoglazoff JM; Fontaine B
    Arch Pediatr; 2002 Dec; 9(12):1256-9. PubMed ID: 12536108
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
    Donaldson MR; Jensen JL; Tristani-Firouzi M; Tawil R; Bendahhou S; Suarez WA; Cobo AM; Poza JJ; Behr E; Wagstaff J; Szepetowski P; Pereira S; Mozaffar T; Escolar DM; Fu YH; Ptácek LJ
    Neurology; 2003 Jun; 60(11):1811-6. PubMed ID: 12796536
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome.
    Chen L; Kawano T; Bajic S; Kaziro Y; Itoh H; Art JJ; Nakajima Y; Nakajima S
    Proc Natl Acad Sci U S A; 2002 Jun; 99(12):8430-5. PubMed ID: 12034888
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.