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Page 1
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: chumakova o. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.
Gimeno JR, Olivotto I, Rodríguez AI, Ho CY, Fernández A, Quiroga A, Espinosa MA, Gómez-González C, Robledo M, Tojal-Sierra L, Day SM, Owens A, Barriales-Villa R, Larrañaga JM, Rodríguez-Palomares J, González-Del-Hoyo M, Piqueras-Flores J, Reza N, Chumakova O, Ashley EA, Parikh V, Wheeler M, Jacoby D, Pereira AC, Saberi S, Helms AS, Villacorta E, Gallego-Delgado M, de Castro D, Domínguez F, Ripoll-Vera T, Zorio-Grima E, Sánchez-Martínez JC, García-Álvarez A, Arbelo E, Mogollón MV, Fuentes-Cañamero ME, Grande E, Peña C, Monserrat L, Lakdawala NK; Dilema International Cardiomyopathy and Heart Failure Registry and international SHaRe (Sarcomeric Human Cardiomyopathy Registry) Investigators group. Gimeno JR, et al. Among authors: chumakova o. ESC Heart Fail. 2022 Aug;9(4):2189-2198. doi: 10.1002/ehf2.13964. Epub 2022 Jun 3. ESC Heart Fail. 2022. PMID: 36255281 Free PMC article.
Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant.
Andreeva S, Chumakova O, Karelkina E, Lebedeva V, Lubimtseva T, Semenov A, Nikitin A, Speshilov G, Kozyreva A, Sokolnikova P, Zhuk S, Fomicheva Y, Moiseeva O, Kostareva A. Andreeva S, et al. Among authors: chumakova o. Front Genet. 2022 Feb 22;13:743472. doi: 10.3389/fgene.2022.743472. eCollection 2022. Front Genet. 2022. PMID: 35273634 Free PMC article.
[International register "Analysis of Chronic Non-infectious Diseases Dynamics After COVID-19 Infection in Adult Patients (ACTIV SARS-CoV-2)"].
Arutyunov GP, Tarlovskaya EI, Arutyunov AG, Belenkov YN, Konradi AO, Lopatin YM, Tereshchenko SN, Rebrov AP, Chesnikova AI, Fomin IV, Grigorieva NU, Boldina VM, Vaisberg AR, Blagonravova AS, Makarova EV, Shaposhnik II, Kuznetsova TY, Malchikova SV, Protsenko DN, Evzerikhina AV, Petrova MM, Demko IV, Saphonov DV, Hayrapetyan HG, Galyavich AS, Kim ZF, Sugraliev AB, Nedogoda SV, Tsoma VV, Sayganov SA, Gomonova VV, Gubareva IV, Sarybaev AS, Ruzanau DY, Majseenko VI, Babin AP, Kamilova UK, Koroleva EV, Vilkova OE, Fomina IY, Pudova IA, Soloveva DV, Doshchannikov DA, Kiseleva NV, Zelyaeva NV, Kouranova IM, Pogrebetskaya VA, Muradova FN, Badina OY, Kovalishena OV, Gаlova AE, Plastinina SS, Grigorovich MS, Lyubavina NA, Vezikova NN, Levankova VI, Ivanova SY, Ermilova AN, Muradyan RG, Gostishev RV, Tikhonova EP, Kuzmina TY, Soloveva IA, Kraposhina AY, Kolyadich MI, Kolchinskaya TP, Genkel VV, Kuznetsova AS, Kazakovtseva MV, Odegova AA, Chudinovskikh TI, Baramzina SV, Rozanova NA, Kerimova AS, Krivosheina NA, Chukhlova SY, Levchenko AA, Avoyan HG, Azarian KK, Musaelian SN, Avetisian SA, Levin ME, Karpov OV, Sokhova FM, Burygina LA, Sheshina TV, Tiurin AA, Dolgikh OY, Kazymova EV, Konstantin… See abstract for full author list ➔ Arutyunov GP, et al. Among authors: chumakova oa. Kardiologiia. 2021 Jan 12;60(11):30-34. Kardiologiia. 2021. PMID: 33487147 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. Ter Arkh. 2023 May 31;95(4):335-340. doi: 10.26442/00403660.2023.04.202160. Ter Arkh. 2023. PMID: 38158982 Review. Russian.
Disrupted Stiffness Ratio Alters Nuclear Mechanosensing.
Walther BK, Sears AP, Mojiri A, Avazmohammadi R, Gu J, Chumakova OV, Pandian NKR, Dominic A, Martiel JL, Yazdani SK, Cooke JP, Ohayon J, Pettigrew RI. Walther BK, et al. Among authors: chumakova ov. Matter. 2023 Oct 4;6(10):3608-3630. doi: 10.1016/j.matt.2023.08.010. Epub 2023 Sep 1. Matter. 2023. PMID: 37937235
55 results