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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: landstrom a. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483
DiscoVari: A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes.
Kurzlechner LM, Kishnani S, Chowdhury S, Atkins SL, Moya-Mendez ME, Parker LE, Rosamilia MB, Tadros HJ, Pace LA, Patel V, Chahal CAA, Landstrom AP. Kurzlechner LM, et al. Among authors: landstrom ap. Circ Genom Precis Med. 2023 Aug;16(4):317-327. doi: 10.1161/CIRCGEN.122.003911. Epub 2023 Jul 6. Circ Genom Precis Med. 2023. PMID: 37409478 Free article.
Reduction in Junctophilin 2 Expression in Cardiac Nodal Tissue Results in Intracellular Calcium-Driven Increase in Nodal Cell Automaticity.
Landstrom AP, Yang Q, Sun B, Perelli RM, Bidzimou MT, Zhang Z, Aguilar-Sanchez Y, Alsina KM, Cao S, Reynolds JO, Word TA, van der Sangen NMR, Wells Q, Kannankeril PJ, Ludwig A, Kim JJ, Wehrens XHT. Landstrom AP, et al. Circ Arrhythm Electrophysiol. 2023 Feb;16(2):e010858. doi: 10.1161/CIRCEP.122.010858. Epub 2023 Jan 27. Circ Arrhythm Electrophysiol. 2023. PMID: 36706317 Free PMC article.
Molecular evolution of the junctophilin gene family.
Garbino A, van Oort RJ, Dixit SS, Landstrom AP, Ackerman MJ, Wehrens XH. Garbino A, et al. Among authors: landstrom ap. Physiol Genomics. 2009 May 13;37(3):175-86. doi: 10.1152/physiolgenomics.00017.2009. Epub 2009 Mar 24. Physiol Genomics. 2009. PMID: 19318539 Free PMC article.
117 results