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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. Déri S, et al. Among authors: kornyei l. Cardiovasc Res. 2021 Jul 7;117(8):1923-1934. doi: 10.1093/cvr/cvaa249. Cardiovasc Res. 2021. PMID: 32810216
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. Ördög B, et al. Among authors: kornyei l. Can J Physiol Pharmacol. 2015 Jul;93(7):569-75. doi: 10.1139/cjpp-2014-0527. Epub 2015 Apr 17. Can J Physiol Pharmacol. 2015. PMID: 26103554
Mid-term echocardiographic follow up of left ventricular function with permanent right ventricular pacing in pediatric patients with and without structural heart disease.
Shalganov TN, Paprika D, Vatasescu R, Kardos A, Mihalcz A, Kornyei L, Szatmari A, Szili-Torok T. Shalganov TN, et al. Among authors: kornyei l. Cardiovasc Ultrasound. 2007 Mar 12;5:13. doi: 10.1186/1476-7120-5-13. Cardiovasc Ultrasound. 2007. PMID: 17352821 Free PMC article. Clinical Trial.
41 results