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Similar articles for PMID: 35305865

115 results

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Dominant negative effects of SCN5A missense variants.
O'Neill MJ, Muhammad A, Li B, Wada Y, Hall L, Solus JF, Short L, Roden DM, Glazer AM. O'Neill MJ, et al. Genet Med. 2022 Jun;24(6):1238-1248. doi: 10.1016/j.gim.2022.02.010. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305865 Free PMC article.
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Ishikawa T, Kimoto H, Mishima H, Yamagata K, Ogata S, Aizawa Y, Hayashi K, Morita H, Nakajima T, Nakano Y, Nagase S, Murakoshi N, Kowase S, Ohkubo K, Aiba T, Morimoto S, Ohno S, Kamakura S, Nogami A, Takagi M, Karakachoff M, Dina C, Schott JJ, Yoshiura KI, Horie M, Shimizu W, Nishimura K, Kusano K, Makita N. Ishikawa T, et al. Eur Heart J. 2021 Jul 31;42(29):2854-2863. doi: 10.1093/eurheartj/ehab254. Eur Heart J. 2021. PMID: 34219138
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
Hu D, Barajas-Martínez H, Pfeiffer R, Dezi F, Pfeiffer J, Buch T, Betzenhauser MJ, Belardinelli L, Kahlig KM, Rajamani S, DeAntonio HJ, Myerburg RJ, Ito H, Deshmukh P, Marieb M, Nam GB, Bhatia A, Hasdemir C, Haïssaguerre M, Veltmann C, Schimpf R, Borggrefe M, Viskin S, Antzelevitch C. Hu D, et al. J Am Coll Cardiol. 2014 Jul 8;64(1):66-79. doi: 10.1016/j.jacc.2014.04.032. J Am Coll Cardiol. 2014. PMID: 24998131 Free PMC article.
Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.
Monasky MM, Micaglio E, Ciconte G, Rivolta I, Borrelli V, Ghiroldi A, D'Imperio S, Binda A, Melgari D, Benedetti S, Mitrovic P, Anastasia L, Mecarocci V, Ćalović Ž, Casari G, Pappone C. Monasky MM, et al. Int J Mol Sci. 2021 Apr 29;22(9):4700. doi: 10.3390/ijms22094700. Int J Mol Sci. 2021. PMID: 33946750 Free PMC article.
115 results