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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Among authors: elliott da, elliott pm. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.
Phelan DG, Anderson DJ, Howden SE, Wong RC, Hickey PF, Pope K, Wilson GR, Pébay A, Davis AM, Petrou S, Elefanty AG, Stanley EG, James PA, Macciocca I, Bahlo M, Cheung MM, Amor DJ, Elliott DA, Lockhart PJ. Phelan DG, et al. Among authors: elliott da. Eur Heart J. 2016 Sep 1;37(33):2586-90. doi: 10.1093/eurheartj/ehw160. Epub 2016 Apr 22. Eur Heart J. 2016. PMID: 27106955
[No title available]
[No authors listed] [No authors listed] PMID: 34004985
Defining the Fetal Gene Program at Single-Cell Resolution in Pediatric Dilated Cardiomyopathy.
Mehdiabadi NR, Boon Sim C, Phipson B, Kalathur RKR, Sun Y, Vivien CJ, Ter Huurne M, Piers AT, Hudson JE, Oshlack A, Weintraub RG, Konstantinov IE, Palpant NJ, Elliott DA, Porrello ER. Mehdiabadi NR, et al. Among authors: elliott da. Circulation. 2022 Oct 4;146(14):1105-1108. doi: 10.1161/CIRCULATIONAHA.121.057763. Epub 2022 Oct 3. Circulation. 2022. PMID: 36191067 Free PMC article. No abstract available.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Ter Huurne M, Parker BL, Liu NQ, Qian EL, Vivien C, Karavendzas K, Mills RJ, Saville JT, Abu-Bonsrah D, Wise AF, Hudson JE, Talbot AS, Finn PF, Martini PGV, Fuller M, Ricardo SD, Watt KI, Nicholls KM, Porrello ER, Elliott DA. Ter Huurne M, et al. Among authors: elliott da. Am J Hum Genet. 2023 Sep 7;110(9):1600-1605. doi: 10.1016/j.ajhg.2023.07.013. Epub 2023 Aug 21. Am J Hum Genet. 2023. PMID: 37607539 Free PMC article.
NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network.
Anderson DJ, Kaplan DI, Bell KM, Koutsis K, Haynes JM, Mills RJ, Phelan DG, Qian EL, Leitoguinho AR, Arasaratnam D, Labonne T, Ng ES, Davis RP, Casini S, Passier R, Hudson JE, Porrello ER, Costa MW, Rafii A, Curl CL, Delbridge LM, Harvey RP, Oshlack A, Cheung MM, Mummery CL, Petrou S, Elefanty AG, Stanley EG, Elliott DA. Anderson DJ, et al. Among authors: elliott da. Nat Commun. 2018 Apr 10;9(1):1373. doi: 10.1038/s41467-018-03714-x. Nat Commun. 2018. PMID: 29636455 Free PMC article.
Drug Screening in Human PSC-Cardiac Organoids Identifies Pro-proliferative Compounds Acting via the Mevalonate Pathway.
Mills RJ, Parker BL, Quaife-Ryan GA, Voges HK, Needham EJ, Bornot A, Ding M, Andersson H, Polla M, Elliott DA, Drowley L, Clausen M, Plowright AT, Barrett IP, Wang QD, James DE, Porrello ER, Hudson JE. Mills RJ, et al. Among authors: elliott da. Cell Stem Cell. 2019 Jun 6;24(6):895-907.e6. doi: 10.1016/j.stem.2019.03.009. Epub 2019 Mar 28. Cell Stem Cell. 2019. PMID: 30930147 Free article.
170 results