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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati… See abstract for full author list ➔ Barc J, et al. Among authors: stallmeyer b. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24. Nat Genet. 2022. PMID: 35210625 Free PMC article.
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.
Kääb S, Crawford DC, Sinner MF, Behr ER, Kannankeril PJ, Wilde AA, Bezzina CR, Schulze-Bahr E, Guicheney P, Bishopric NH, Myerburg RJ, Schott JJ, Pfeufer A, Beckmann BM, Martens E, Zhang T, Stallmeyer B, Zumhagen S, Denjoy I, Bardai A, Van Gelder IC, Jamshidi Y, Dalageorgou C, Marshall V, Jeffery S, Shakir S, Camm AJ, Steinbeck G, Perz S, Lichtner P, Meitinger T, Peters A, Wichmann HE, Ingram C, Bradford Y, Carter S, Norris K, Ritchie MD, George AL Jr, Roden DM. Kääb S, et al. Among authors: stallmeyer b. Circ Cardiovasc Genet. 2012 Feb 1;5(1):91-9. doi: 10.1161/CIRCGENETICS.111.960930. Epub 2011 Nov 18. Circ Cardiovasc Genet. 2012. PMID: 22100668 Free PMC article.
A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.
Zumhagen S, Veldkamp MW, Stallmeyer B, Baartscheer A, Eckardt L, Paul M, Remme CA, Bhuiyan ZA, Bezzina CR, Schulze-Bahr E. Zumhagen S, et al. Among authors: stallmeyer b. PLoS One. 2013 Jun 28;8(6):e67963. doi: 10.1371/journal.pone.0067963. Print 2013. PLoS One. 2013. PMID: 23840796 Free PMC article.
68 results