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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: zateyshchikov d. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
[Practical guidelines for the diagnosis and treatment of transthyretin amyloid cardiomyopathy (ATTR-CM or transthyretin cardiac amyloidosis)].
Tereshchenko SN, Zhirov IV, Moiseeva OM, Adasheva TV, Ansheles AA, Barbarash OL, Galyavich AS, Gudkova AI, Zateyshchikov DA, Kostareva AA, Nasonova SN, Nedogoda SV, Pecherina TB, Ryzhkova DV, Sergienko VB. Tereshchenko SN, et al. Among authors: zateyshchikov da. Ter Arkh. 2022 May 26;94(4):584-595. doi: 10.26442/00403660.2022.04.201465. Ter Arkh. 2022. PMID: 36286812 Russian.
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Chumakova OS, Nasonova SN, Frolova YV, Stepanova EA, Mershina EA, Sinitsyn VE, Zateyshchikov DA, Zhirov IV. Chumakova OS, et al. Among authors: zateyshchikov da. Ter Arkh. 2023 May 31;95(4):335-340. doi: 10.26442/00403660.2023.04.202160. Ter Arkh. 2023. PMID: 38158982 Review. Russian.
95 results