Rena Zinchenko
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Explore the profile of Rena Zinchenko including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
111
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Recent Articles
1.
Subbotin D, Ionova S, Marakhonov A, Saifullina E, Borovikov A, Akhmadeeva L, et al.
Front Genet
. 2024 Dec;
15:1511304.
PMID: 39722797
Introduction: GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different...
2.
Kondratyeva E, Melyanovskaya Y, Sherman V, Voronkova A, Zhekaite E, Krasovsky S, et al.
Front Genet
. 2024 Nov;
15:1383033.
PMID: 39529847
Cystic fibrosis (CF) is a genetically inherited disorder characterized by a wide range of clinical manifestations and genetic variations. This study focuses on the genetic and molecular epidemiology of CF...
3.
Marakhonov A, Mukhina A, Vlasova E, Efimova I, Balinova N, Rodina Y, et al.
Front Pediatr
. 2024 Nov;
12:1468635.
PMID: 39483532
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in...
4.
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...
5.
Vasilyeva T, Kadyshev V, Khalanskaya O, Kuznetsova S, Ionova S, Marakhonov A, et al.
Genes (Basel)
. 2024 Oct;
15(10).
PMID: 39457419
Background/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic...
6.
Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, et al.
Int J Mol Sci
. 2024 Oct;
25(19).
PMID: 39409174
The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare...
7.
Shmarina G, Pukhalskaya D, Shmarin V, Semykin S, Avakyan L, Krasovsky S, et al.
Front Cell Infect Microbiol
. 2024 Jul;
14:1374318.
PMID: 39011515
Background: In current literature there are only scarce data on the host inflammatory response during complex (Bcc) persistence. The primary objective of the present research was to carry out cross-sectional...
8.
Efremova A, Kashirskaya N, Krasovskiy S, Melyanovskaya Y, Krasnova M, Mokrousova D, et al.
Int J Mol Sci
. 2024 Mar;
25(5).
PMID: 38474016
p.Asn1303Lys (N1303K) is a common missense variant of the gene, causing cystic fibrosis (CF). In this study, we initially evaluated the influence of modulators on the restoration of N1303K- function...
9.
Kondratyeva E, Melyanovskaya Y, Efremova A, Krasnova M, Mokrousova D, Bulatenko N, et al.
Genes (Basel)
. 2023 Sep;
14(9).
PMID: 37761847
The intricate nature of complex alleles presents challenges in the classification of gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating effects. Notably, the complex allele [E217G;G509D] remains absent from international...
10.
Khidiyatova I, Khidiyatova I, Zinchenko R, Marakhonov A, Karunas A, Avkhadeeva S, et al.
Curr Issues Mol Biol
. 2023 Jun;
45(6):5145-5163.
PMID: 37367076
Hereditary cataracts are characterized by significant clinical and genetic heterogeneity, which can pose challenges for early DNA diagnosis. To comprehensively address this problem, it is essential to investigate the epidemiology...