| 1 | KCNJ2, PPKCA
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| Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a KCNJ2 Mutation.
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| Gélinas R, El Khoury N, Chaix MA, Beauchamp C, Alikashani A, Ethier N, Boucher G, Villeneuve L, Robb L, Latour F, Mondesert B, Rivard L, Goyette P, Talajic M, Fiset C, Rioux JD.
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| Circ Cardiovasc Genet 10(5). pii: e001755. doi: 10.1161/CIRCGENETICS.117.001755.
2017
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| 2 | KCNJ2, PPKCA
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| Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.
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| Scheiper S, Hertel B, Beckmann BM, Kääb S, Thiel G, Kauferstein S.
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| BMC Med Genet 18(1):113. doi: 10.1186/s12881-017-0472-x.
2017
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| 3 | KCNJ2, PPKCA
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| An inwardly rectifying K+ channel is required for patterning.
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| Dahal GR, Rawson J, Gassaway B, Kwok B, Tong Y, Ptácek LJ, Bates E.
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| Development 139(19):3653-64. doi: 10.1242/dev.078592.
2012
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| 4 | KCNJ2, PPKCA
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| Inhibition of Kir2.1 (KCNJ2) by the AMP-activated protein kinase.
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| Alesutan I, Munoz C, Sopjani M, Dërmaku-Sopjani M, Michael D, Fraser S, Kemp BE, Seebohm G, Föller M, Lang F.
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| Biochem Biophys Res Commun 408(4):505-10. Epub 2011 Apr 9.
2011
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| 5 | KCNJ2, PPKCA
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| Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structure.
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| Ma D, Taneja TK, Hagen BM, Kim BY, Ortega B, Lederer WJ, Welling PA.
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| Cell 145(7):1102-15.
2011
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| 6 | KCNJ2, PPKCA
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| A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.
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| Chan HF, Chen ML, Su JJ, Ko LC, Lin CH, Wu RM.
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| J Hum Genet 55(3):186-8. Epub 2010 Jan 29.
2010
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| 7 | PPKCA, KCNJ2
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| An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway.
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| Ma D, Tang XD, Rogers TB, Welling PA.
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| J Biol Chem 282(8):5781-9. Epub 2006 Dec 13. 2007
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| 8 | PPKCA, KCNJ2
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| Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.
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| Choi BO, Kim J, Suh BC, Yu JS, Sunwoo IN, Kim SJ, Kim GH, Chung KW.
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| J Hum Genet 52(3):280-3. Epub 2007 Jan 9. 2007
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| 9 | KCNJ2, PPKCA
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| Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.
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| 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.
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| J Med Genet 43(8):653-9. Epub 2006 Mar 29. 2006
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| 10 | KCNJ2, PPKCA
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| Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1.
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| Pegan S, Arrabit C, Slesinger PA, Choe S.
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| Biochemistry 45(28):8599-606. 2006
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| 11 | KCNJ2, PPKCA
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| Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction.
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| Schulze-Bahr E.
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| Circ Res 96(7):703-4. No abstract available. 2005
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| 12 | KCNJ2, PPKCA
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| Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.
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| Fodstad H, Swan H, Auberson M, Gautschi I, Loffing J, Schild L, Kontula K.
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| J Mol Cell Cardiol 37(2):593-602. 2004
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| 13 | PPKCA, KCNJ2
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| Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome.
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| Hosaka Y, Hanawa H, Washizuka T, Chinushi M, Yamashita F, Yoshida T, Komura S, Watanabe H, Aizawa Y.
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| J Mol Cell Cardiol 35(4):409-15. 2003
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| 14 | KCNJ2, PPKCA
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| KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.
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| Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW.
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| Am J Hum Genet 71(3):663-8. 2002
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| 15 | KCNJ2, PPKCA
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| Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.
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| Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M.
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| Circulation 105(22):2592-4. 2002
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| 16 | PPKCA, KCNJ2
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| Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
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| 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.
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| J Clin Invest 110(3):381-8. 2002
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| 17 | KCNJ2, PPKCA
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| Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
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| Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ.
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| Cell 105(4):511-9. 2001
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