Основные публикации

Список наиболее значимых публикаций за последние 5 лет:

1.     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 and Drapkina OM. Genetic landscape in Russian patients with familial left ventricular noncompaction. Frontiers in Cardiovascular Medicine. 2023; 10:1205787. https://doi.org/10.3389/fcvm.2023.1205787

2.     Blokhina AV, Ershova AI, Kiseleva AV, Sotnikova EA, Zharikova AA, Zaicenoka M, Vyatkin YV, Ramensky VE, Kutsenko VA, Shalnova SA, Meshkov AN, Drapkina OM. Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study. Int J Mol Sci. 2023;24(17):13159. https://doi.org/10.3390/ijms241713159

3.     Myasnikov RP, Kulikova OV, Meshkov AN, Bukaeva AA, Kiseleva AV, Ershova AI, Petukhova AV, Divashuk MG, Zotova ED, Sotnikova EA, Abisheva AA, Muraveva AV, Koretskiy SN, Popov SV, Utkina MV, Snigir EA, Mitrofanov SI, Konureeva KD, Mershina EA, Sinitsyn VE, Yudin SM, Drapkina OM. A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy. Genes. 2022; 13(10):1750. https://doi.org/10.3390/genes13101750

4.     Sotnikova EA, Kiseleva AV, Kutsenko VA, Zharikova AA, Ramensky VE, Divashuk MG, Vyatkin YV, Klimushina MV, Ershova AI, Revazyan KZ, Skirko OP, Zaicenoka M, Efimova IA, Pokrovskaya MS, Kopylova OV, Glechan AM, Shalnova SA, Meshkov AN, Drapkina OM. Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. Journal of Personalized Medicine. 2022; 12(7):1132. https://doi.org/10.3390/jpm12071132

5.     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 (2022). A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene. Genes, 13(2), 309. https://doi.org/10.3390/genes13020309

6.     Blokhina AV, Ershova AI, Zyatenkova EV, Meshkov AN, Kiseleva AV, Klimushina MV, Sotnikova EA, Skirko OP, Zharikova AA, Doludin YV, Kharlap MS, Drapkina OM (2022). Personalized approach in arrhythmology by genetic-based data: a case report. personalized medicine, 19(2), 1-9. https://doi.org/10.2217/pme-2021-0090

7.     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. (2021). The LDLR, APOB, and PCSK9 variants of index patients with familial hypercholesterolemia in Russia. Genes, 12(1), 66. https://doi.org/10.3390/genes12010066

8.     Meshkov AN, Ershova AI, Kiseleva AV, Shalnova SA, Drapkina OM, Boytsov SA, On Behalf Of The Fh-ESSE-RF Investigators (2021). The prevalence of heterozygous familial hypercholesterolemia in selected regions of the russian federation: The FH-ESSE-RF study. Journal of Personalized Medicine, 11(6), 464. https://doi.org/10.3390/jpm11060464

9.     Kulikova O, Brodehl A, Kiseleva A, Myasnikov R, Meshkov A, Stanasiuk C, Gärtner A, Divashuk M, Sotnikova E, Koretskiy S, Kharlap M, Kozlova V, Mershina E, Pilus P, Sinitsyn V, Milting H, Boytsov S, Drapkina O.  (2021). The desmin (DES) mutation p. A337P is associated with left-ventricular non-compaction cardiomyopathy. Genes, 12(1), 121. https://doi.org/10.3390/genes12010121

10. Brodehl A, Meshkov A, Myasnikov R, Kiseleva A, Kulikova O, Klauke B, Sotnikova E, Stanasiuk C, Divashuk M, Pohl GM, Kudryavtseva M, Klingel K, Gerull B, Zharikova A, Gummert J, Koretskiy S, Schubert S, Mershina E, Gärtner A, Pilus P, Laser KT, Sinitsyn V, Boytsov S, Drapkina O, Milting H. (2021). Hemi-and homozygous loss-of-function mutations in dsg2 (Desmoglein-2) cause recessive arrhythmogenic cardiomyopathy with an early onset. International journal of molecular sciences, 22(7), 3786. https://doi.org/10.3390/ijms22073786

11. Ramensky VE, Ershova AI, Zaicenoka M, Kiseleva AV, Zharikova AA, Vyatkin YV, Sotnikova EA,  Efimova IA, Divashuk MG, Kurilova OV, Muromtseva GA, Belova OA, Rachkova SA, Pokrovskaya MS, Shalnova SA, Meshkov AN, Drapkina OM (2021). Targeted sequencing of 242 clinically important genes in the Russian population from the Ivanovo region. Frontiers in genetics, 1782. https://doi.org/10.3389/fgene.2021.709419

12. Limonova AS, Ershova AI, Meshkov AN, Kiseleva AV, Divashuk MG, Kutsenko VA, Drapkina OM.  (2021). Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype. Frontiers in Cardiovascular Medicine, 358. https://doi.org/10.3389/fcvm.2020.585779.

13. 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. (2020). A data-driven approach to carrier screening for common recessive diseases. Journal of personalized medicine, 10(3), 140. https://doi.org/10.3390/jpm10030140

14. 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. (2020). Cystic Fibrosis Polymorphic Variants in a Russian Population. Pharmacogenomics and Personalized Medicine, 13, 679. https://doi.org/10.2147/PGPM.S278806

15. 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. (2021). The Double Mutation DSG2-p. S363X and TBX20-p. D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report. International Journal of Molecular Sciences, 22(13), 6775. https://doi.org/10.3390/ijms22136775.

16. 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 (2019). 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. Human Mutation, 40(6), 734-741. https://doi.org/10.1002/humu.23747