Accès ouvert
2026
article
OpenAlex
Zoya Antysheva, Viktor P. Bogdanov, Ekaterina Rutkovskaya, Anna Stepanova et autres
The standard-of-car and genetic testing for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) is Sanger sequencing of a long-range CYP21A2 amplicon combined with multiplex ligation-dependent probe amplification (MLPA). Many Sanger sequencing protocols capture only selected regions of CYP21A2 and require several sequencing reactions. …
cz, ru
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Accès ouvert
2026
article
OpenAlex
Eugene Albert, Andrei A. Deviatkin, Daria Smirnova, Mary Woroncow et autres
Background Human leukocyte antigen (HLA) is a highly polymorphic locus in the human genome that also has high clinical significance. New alleles of HLA genes are constantly being discovered but mostly by HLA typing laboratories using field-specific protocols, such as enrichment of …
ru, cz
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Dmitry I Tychinin, Ekaterina S. Petriaikina, Olga A. Antonova, Viktor P. Bogdanov et autres
Deciphering the cellular and molecular mechanisms of type 1 diabetes (T1D) has long been a central goal in immunology. Here, we perform a large-scale single-cell transcriptomic analysis of peripheral blood mononuclear cells from children with T1D, their first-degree relatives, and healthy controls, …
ru, cz
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
V. V. Kucherenko, Natalia Doroschuk, Elizaveta Sarygina, Olesya Sagaydak et autres
Abstract HLA loci are highly polymorphic genome regions, with allele frequencies varying significantly across different populations. Population HLA frequency databases may contain biases and make cross-study comparison complicated due to varying data curation protocols, genotyping methodologies, resolution, and inconsistencies in the selection …
cz, us, ru
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Accès ouvert
2026
preprint
OpenAlex
Artem Podvalnyi, V. V. Kucherenko, Natalia Doroschuk, Elizaveta Sarygina et autres
Abstract Pseudogenes are non-functional copies of protein-coding genes that arise through genomic duplication or retrotransposition. Processed pseudogenes (PPs) is the most abundant class of pseudogenes, which is generated via mRNA reverse transcription and subsequent cDNA integration. Presence of PPs complicates the analysis …
cz, ru
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Accès ouvert
2026
article
OpenAlex
Victoria Sergeevna Shchekina, Nikita Aleksandrovich Batashkov, Anna Arkadievna Maznina, Julia Aleksandrovna Krupinova et autres
Polygenic autoimmune diseases (ADs) have several common features that are caused by a complex interplay of genetic and environmental factors. Common pathophysiological mechanisms include dysregulation of the immune system, chronic inflammation, and epigenetic changes influenced by external factors. For the prediction of …
cz, ru
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Accès ouvert
2025
article
OpenAlex
Alesia Maluchenko, Ekaterina Avsievich, Ia. S. Zvorygina, Zoya Antysheva et autres
BACKGROUND: Currently, single cell transcriptome profiling technology is gaining popularity, with an increasing number of novel platforms emerging. The development of new technologies is aimed at improving data quality, scale, cost, or labor intensity. Given the rapid evolution of these technologies, a …
ru, cz
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Tatiana Alekseevna Marakhovskaya, D Tabakov, О. В. Глушкова, Zoya Antysheva et autres
-cells, predominantly manifesting in childhood or adolescence. The lack of clearly interpretable biological markers in the early stages, combined with the insidious onset of the disease, poses significant challenges to early diagnosis and the implementation of preventive strategies. The applicability of classic …
ru, cz
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Accès ouvert
2025
article
OpenAlex
Alina Bilyalova, Airat Bilyalov, Olga Kozlova, Nikita Filatov et autres
This study investigates the adrenal gland structure and gene expression in Acomys cahirinus compared to Mus musculus, aiming to assess its relevance for human adrenal disease modeling. We identified a well-defined zona reticularis in Acomys, resembling the human adrenal cortex. Transcriptomic analysis …
ru, jp
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Accès ouvert
2025
article
OpenAlex
Azat Abdullatypov, О. В. Глушкова, Ekaterina S. Petriaikina, Viktor P. Bogdanov et autres
-cells and loss of insulin production ability. Pathogenesis of T1DM is a complex process involving different types of immune cells, particularly, T-lymphocytes (including effector cells, Thelpers, regulatory lymphocytes, MAIT cells), B-lymphocytes, natural killers, monocytes, dendritic cells, and other minor cellular populations that …
ru, cz
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Accès ouvert
2025
article
OpenAlex
D Tabakov, Anna A. Maznina, Ekaterina A. Astakhova, Е. Н. Захарова et autres
Immune system plays a central role in the pathogenesis of cancer and autoimmune diseases. An entire field has emerged to identify separate minor cell subpopulations carrying potential molecular targets or activation markers to study their prognostic role in disease progression and severity …
ru, cz
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Accès ouvert
2025
article
OpenAlex
Ali Mazloum, Sofya G. Feoktistova, Anna Gubaeva, Almaqdad Alsalloum et autres
), leading to defective proinsulin processing, endoplasmic reticulum (ER) stress, and β-cell dysfunction. Current management relies on sulfonylureas or insulin therapy, but these fail to address the underlying genetic defect. Recent research has elucidated the molecular mechanisms of MODY10, including ER stress …
ru
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