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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: bezzina cr. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR. Watanabe H, et al. Among authors: bezzina cr. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891. J Clin Invest. 2008. PMID: 18464934 Free PMC article.
Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy.
Pilichou K, Remme CA, Basso C, Campian ME, Rizzo S, Barnett P, Scicluna BP, Bauce B, van den Hoff MJ, de Bakker JM, Tan HL, Valente M, Nava A, Wilde AA, Moorman AF, Thiene G, Bezzina CR. Pilichou K, et al. Among authors: bezzina cr. J Exp Med. 2009 Aug 3;206(8):1787-802. doi: 10.1084/jem.20090641. Epub 2009 Jul 27. J Exp Med. 2009. PMID: 19635863 Free PMC article.
Developmental aspects of cardiac arrhythmogenesis.
Postma AV, Christoffels VM, Bezzina CR. Postma AV, et al. Among authors: bezzina cr. Cardiovasc Res. 2011 Jul 15;91(2):243-51. doi: 10.1093/cvr/cvr134. Epub 2011 May 12. Cardiovasc Res. 2011. PMID: 21565834 Review.
233 results