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Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. Marakhonov AV, et al. Among authors: kharlap ms. Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3. Hum Mutat. 2019. PMID: 30908796
The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Myasnikov R, Brodehl A, Meshkov A, Kulikova O, Kiseleva A, Pohl GM, Sotnikova E, Divashuk M, Klimushina M, Zharikova A, Pokrovskaya M, Koretskiy S, Kharlap M, Mershina E, Sinitsyn V, Basargina E, Gandaeva L, Barskiy V, Boytsov S, Milting H, Drapkina O. Myasnikov R, et al. Int J Mol Sci. 2021 Jun 24;22(13):6775. doi: 10.3390/ijms22136775. Int J Mol Sci. 2021. PMID: 34202524 Free PMC article.
Personalized approach in arrhythmology by genetic-based data: a case report.
Blokhina AV, Ershova AI, Zyatenkova EV, Meshkov AN, Kiseleva AV, Klimushina MV, Sotnikova EA, Skirko OP, Zharikova AA, Doludin YV, Kharlap MS, Drapkina OM. Blokhina AV, et al. Among authors: kharlap ms. Per Med. 2022 Mar;19(2):83-91. doi: 10.2217/pme-2021-0090. Epub 2022 Jan 21. Per Med. 2022. PMID: 35060774
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Myasnikov R, Bukaeva A, Kulikova O, Meshkov A, Kiseleva A, Ershova A, Petukhova A, Divashuk M, Zotova E, Sotnikova E, Kharlap M, Zharikova A, Vyatkin Y, Ramensky V, Abisheva A, Muraveva A, Koretskiy S, Kudryavtseva M, Popov S, Utkina M, Mershina E, Sinitsyn V, Kogan E, Blagova O, Drapkina O. Myasnikov R, et al. Genes (Basel). 2022 Feb 7;13(2):309. doi: 10.3390/genes13020309. Genes (Basel). 2022. PMID: 35205353 Free PMC article.
[Familial left ventricular noncompaction: phenotypes and clinical course. Results of the multicenter registry].
Kulikova OV, Myasnikov RP, Mershina EA, Pilus PS, Koretskiy SN, Meshkov AN, Kiseleva AV, Kharlap MS, Sinitsyn VE, Sdvigova NA, Gandaeva LA, Barskiy VI, Derevnina YV, Zharova OP, Basargina EN, Boytsov SA, Drapkina OM. Kulikova OV, et al. Among authors: kharlap ms. Ter Arkh. 2021 Apr 15;93(4):381-388. doi: 10.26442/00403660.2021.04.200677. Ter Arkh. 2021. PMID: 36286770 Russian.
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN, Myasnikov RP, Kiseleva AV, Kulikova OV, Sotnikova EA, Kudryavtseva MM, Zharikova AA, Koretskiy SN, Mershina EA, Ramensky VE, Zaicenoka M, Vyatkin YV, Kharlap MS, Nikityuk TG, Sinitsyn VE, Divashuk MG, Kutsenko VA, Basargina EN, Barskiy VI, Sdvigova NA, Skirko OP, Efimova IA, Pokrovskaya MS, Drapkina OM. Meshkov AN, et al. Among authors: kharlap ms. Front Cardiovasc Med. 2023 May 24;10:1205787. doi: 10.3389/fcvm.2023.1205787. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37342443 Free PMC article.
Novel locus for an inherited cardiomyopathy maps to chromosome 7.
Song L, DePalma SR, Kharlap M, Zenovich AG, Cirino A, Mitchell R, McDonough B, Maron BJ, Seidman CE, Seidman JG, Ho CY. Song L, et al. Circulation. 2006 May 9;113(18):2186-92. doi: 10.1161/CIRCULATIONAHA.106.615658. Epub 2006 May 1. Circulation. 2006. PMID: 16651466
22 results