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XB--1012187
Papers associated with kcnj2 (and OMIM)
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Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome., Adams DS, Uzel SG, Akagi J, Wlodkowic D, Andreeva V, Yelick PC, Devitt-Lee A, Pare JF, Levin M., J Physiol. June 15, 2016; 594 (12): 3245-70.  |
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Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype., Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M., Hum Mol Genet. September 15, 2014; 23 (18): 4875-86.  |
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An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway., Ma D, Tang XD, Rogers TB, Welling PA., J Biol Chem. February 23, 2007; 282 (8): 5781-9. |
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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. August 1, 2006; 43 (8): 653-9. |
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Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome., Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptácek LJ., J Biol Chem. December 19, 2003; 278 (51): 51779-85. |
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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. August 1, 2002; 110 (3): 381-8. |
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