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Aleksander Polyakov

Explore the profile of Aleksander Polyakov including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Mikhalchuk K, Polyakov A, Zabnenkova V, Ismagilova O, Shchagina O
Int J Mol Sci . 2025 Mar; 26(5). PMID: 40076610
5q spinal muscular atrophy (5q SMA) is one of the most prevalent autosomal recessive disorders worldwide. In 5q SMA, cases of silent carriers have been reported, including duplications, intragenic subtle...
2.
Milovanova A, Ananin P, Vashurina T, Zrobok O, Dmitrienko S, Ryaposova A, et al.
Int J Mol Sci . 2025 Feb; 26(4). PMID: 40004207
Schimke immuno-osseous dysplasia (SIOD) is a hereditary autosomal-recessive multi-system disorder with early mortality. It has variable clinical presentations, mainly characterised by disproportional short stature, steroid-resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and...
3.
Chausova P, Cherevatova T, Dadali E, Murtazina A, Bulakh M, Kurbatov S, et al.
Int J Mol Sci . 2025 Feb; 26(3). PMID: 39941024
-associated muscular dystrophy is a rare genetic disorder caused by pathogenic or likely pathogenic variants in the gene. The aim of this study is to characterize the spectrum of pathogenic/likely...
4.
Shchagina O, Gilazova L, Filatova A, Vafina Z, Murtazina A, Chigvintceva P, et al.
Int J Mol Sci . 2025 Feb; 26(3). PMID: 39940784
Laminopathies are a broad spectrum of hereditary diseases caused by pathogenic variants of the gene. Such phenotypic diversity is explained by the function of intermediate filaments encoded by the gene....
5.
Shchagina O, Stepanova A, Mishakova P, Kadyshev V, Demina N, Bessonova L, et al.
Biomedicines . 2024 Oct; 12(10). PMID: 39457547
oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the gene, accounting...
6.
Akhkiamova M, Polyakov A, Marakhonov A, Voronin S, Saifullina E, Vafina Z, et al.
Genes (Basel) . 2024 Jul; 15(7). PMID: 39062735
During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns in the Russian Federation in order to detect 5q spinal muscular...
7.
Shchagina O, Murtazina A, Chausova P, Orlova M, Dadali E, Kurbatov S, et al.
Front Genet . 2024 Jun; 15:1381915. PMID: 38903759
Introduction: Charcot-Marie-Tooth disease type 4C (CMT4C) OMIM#601596 stands out as one of the most prevalent forms of recessive motor sensory neuropathy worldwide. This disorder results from biallelic pathogenic variants in...
8.
Bulakh M, Polyakova D, Dadali E, Rudenskaya G, Sharkova I, Markova T, et al.
Gene . 2024 Jun; 927:148680. PMID: 38876406
Sarcoglycanopathies encompass four distinct forms of limb-girdle muscular dystrophies (LGMD), denoted as LGMD R3-R6, arising from mutations within the SGCA, SGCB, SGCG, and SGCD genes. The global prevalence of sarcoglycanopathies...
9.
Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O
Genes (Basel) . 2024 Mar; 15(3). PMID: 38540404
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all...
10.
Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, et al.
Biomedicines . 2024 Jan; 12(1). PMID: 38255179
Variants that affect splice sites comprise 14.3% of all pathogenic variants in the gene; more than half of them are located outside the canonical sites. To make a clinical decision...