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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: kiseleva av. Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3. Hum Mutat. 2019. PMID: 30908796
Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.
Khlebus E, Kutsenko V, Meshkov A, Ershova A, Kiseleva A, Shevtsov A, Shcherbakova N, Zharikova A, Lankin V, Tikhaze A, Chazova I, Yarovaya E, Drapkina O, Boytsov S. Khlebus E, et al. Among authors: kiseleva a. PLoS One. 2019 May 31;14(5):e0217620. doi: 10.1371/journal.pone.0217620. eCollection 2019. PLoS One. 2019. PMID: 31150472 Free PMC article.
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV, Klimushina MV, Sotnikova EA, Divashuk MG, Ershova AI, Skirko OP, Kurilova OV, Zharikova AA, Khlebus EY, Efimova IA, Pokrovskaya MS, Slominsky PA, Shalnova SA, Meshkov AN, Drapkina OM. Kiseleva AV, et al. J Pers Med. 2020 Sep 22;10(3):140. doi: 10.3390/jpm10030140. J Pers Med. 2020. PMID: 32971794 Free PMC article.
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A, Ershova A, Kiseleva A, Zotova E, Sotnikova E, Petukhova A, Zharikova A, Malyshev P, Rozhkova T, Blokhina A, Limonova A, Ramensky V, Divashuk M, Khasanova Z, Bukaeva A, Kurilova O, Skirko O, Pokrovskaya M, Mikova V, Snigir E, Akinshina A, Mitrofanov S, Kashtanova D, Makarov V, Kukharchuk V, Boytsov S, Yudin S, Drapkina O. Meshkov A, et al. Among authors: kiseleva a. Genes (Basel). 2021 Jan 6;12(1):66. doi: 10.3390/genes12010066. Genes (Basel). 2021. PMID: 33418990 Free PMC article.
Cystic Fibrosis Polymorphic Variants in a Russian Population.
Kiseleva A, Klimushina M, Sotnikova E, Skirko O, Divashuk M, Kurilova O, Ershova A, Khlebus E, Zharikova A, Efimova I, Pokrovskaya M, Slominsky PA, Shalnova S, Meshkov A, Drapkina O. Kiseleva A, et al. Pharmgenomics Pers Med. 2020 Dec 1;13:679-686. doi: 10.2147/PGPM.S278806. eCollection 2020. Pharmgenomics Pers Med. 2020. PMID: 33623413 Free PMC article.
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. Among authors: kiseleva a. Int J Mol Sci. 2021 Jun 24;22(13):6775. doi: 10.3390/ijms22136775. Int J Mol Sci. 2021. PMID: 34202524 Free PMC article.
226 results