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Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.
Sun B, Rouzbehani OMT, Kramer RJ, Ghosh R, Perelli RM, Atkins S, Fatahian AN, Davis K, Szulik MW, Goodman MA, Hathaway MA, Chi E, Word TA, Tunuguntla H, Denfield SW, Wehrens XHT, Whitehead KJ, Abdelnasser HY, Warren JS, Wu M, Franklin S, Boudina S, Landstrom AP. Sun B, et al. Circ Heart Fail. 2023 Dec;16(12):e010351. doi: 10.1161/CIRCHEARTFAILURE.122.010351. Epub 2023 Dec 19. Circ Heart Fail. 2023. PMID: 38113297
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. Among authors: sun b. 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.
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.
Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP. Kramer RJ, et al. Among authors: sun b. Circ Genom Precis Med. 2023 Aug;16(4):390-400. doi: 10.1161/CIRCGEN.122.003912. Epub 2023 Jul 3. Circ Genom Precis Med. 2023. PMID: 37395136
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