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 Найдено в других БД:Каталог книг и продолжающихся изданий (1560)Сводный каталог иностранных периодических изданий, имеющихся в библиотеках УрО РАН (10)Каталог диссертаций и авторефератов диссертаций УрО РАН (185)Каталог препринтов УрО РАН (1975 г. - ) (22)Публикации об УрО РАН (1)Изобретения уральских ученых (1)Интеллектуальная собственность (статьи из периодики) (5)Нанотехнологии (90)Труды Института высокотемпературной электрохимии УрО РАН (195)Труды Института истории и археологии УрО РАН (34)Труды сотрудников Института горного дела УрО РАН (1)Труды сотрудников Института органического синтеза УрО РАН (214)Труды сотрудников Института теплофизики УрО РАН (16)Труды сотрудников Института химии твердого тела УрО РАН (396)Расплавы (848)Публикации Чарушина В.Н. (82)Каталог библиотеки ИГД УрО РАН (1)Каталог библиотеки ИЭРиЖ УрО РАН (44)
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1.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Shinwari K., Wu Y., Rehman H., Xiao N., Bolkov M., Tuzankina I., Chereshnev V.
Заглавие : In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function
Место публикации : BMC Bioinformatics. - 2023. - Vol. 24. - Ст.251
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Аннотация: Hennekam Lymphangiectasia–Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations in a few genes including ADAMTS3. It is characterized by lymphatic dysplasia, intestinal lymphangiectasia, severe lymphedema and distinctive facial appearance. Up till now, no extensive studies have been conducted to elucidate the mechanism of the disease caused by various mutations. As a preliminary investigation of HKLLS3, we sorted out the most deleterious nonsynonymous single nucleotide polymorphisms (nsSNPs) that might affect the structure and function of ADAMTS3 protein by using a variety of in silico tools. A total of 919 nsSNPs in the ADAMTS3 gene were identified. 50 nsSNPs were predicted to be deleterious by multiple computational tools. 5 nsSNPs (G298R, C567Y, A370T, C567R and G374S) were found to be the most dangerous and can be associated with the disease as predicted by different bioinformatics tools. Modelling of the protein shows it can be divided into segments 1, 2 and 3, which are connected by short loops. Segment 3 mainly consists of loops without substantial secondary structures. With prediction tools and molecular dynamics simulation, some SNPs were found to significantly destabilize the protein structure and disrupt the secondary structures, especially in segment 2. The deleterious effects of mutations in segment 1 are possibly not from destabilization but from other factors such as the change in phosphorylation as suggested by post-translational modification (PTM) studies. This is the first-ever study of ADAMTS3 gene polymorphism, and the predicted nsSNPs in ADAMST3, some of which have not been reported yet in patients, will serve for diagnostic purposes and further therapeutic implications in Hennekam syndrome, contributing to better diagnosis and treatment.
https://link.springer.com/article/10.1186/s12859-023-05361-6
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2.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Shinwari K., Rehman H., Xiao N., Liu G., Khan M. A., Bolkov M., Tuzankina I., Chereshnev V.
Заглавие : Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation
Место публикации : Informatics in Medicine Unlocked. - 2023. - Vol. 37. - Ст.101160 (14 pp.)
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Ключевые слова (''Своб.индексиров.''): hennekam syndrome--primary immunodeficiency--fat4 missense snp
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3.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Shardina K. Yu., Zamorina S. A., Timganova V. P., Bochkova M. S., Uzhviyuk S. V., Chereshnev V. A.
Заглавие : Alpha-fetoprotein as a factor of differentiation and functional activity of myeloid-derived suppressor cells
Место публикации : Bulletin of experimental biology and medicine. - 2023. - Vol. 175. - С. 535–543
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Аннотация: We studied the role of alpha-fetoprotein (AFP) in regulation of differentiation and functional activity of human myeloid-derived suppressor cells (MDSC) in vitro. To obtain MDSC, CD11b+ cells were isolated from the peripheral blood of healthy donors followed by cytokine induction (IL-1β+GM-CSF) into the MDSC phenotype. The cell functions were assessed by the expression of indoleamine 2,3-dioxygenase (IDO) and arginase-1 (Arg1) and cytokine profile of the cell cultures. Native AFP did not affect the total number of MDSC and the percentage of polymorphonuclear MDSC (PMN-MDSC), but increased the number of monocytic MDSC (M-MDSC). AFP did not change the expression of Arg1, but in low concentrations (10 and 50 U/ml) increased the number of IDO-containing cells. AFP modulated the cytokine profile of CD11b+ cells: it reliably decreased the level of IL-19 (50 and100 U/ml) and showed a tendency to decrease the levels of IL-34, MMP-2, sCD163, CHI3L1, OPN and to increase the levels of IL-29, IL-32, APRIL, PTX3, and sTNF-R1. Thus, we have demonstrated a regulatory effect of native AFP at the level of MDSC generated from CD11b+ cells under conditions of cytokine induction in vitro.
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4.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Saidakova E. V., Korolevskaya L. B., Shmagel N. G., Vlasova V. V., Shardina K. Yu., Chereshnev V. A., Shmagel K. V.
Заглавие : In HIV-infected immunological non-responders, hepatitis C virus eradication contributes to incomplete normalization of systemic inflammation, but does not lead to rapid CD4+ T-cell count recovery
Место публикации : Doklady Biochemistry and Biophysics. - 2023. - Vol. 512. - С. 274–278
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Ключевые слова (''Своб.индексиров.''): hiv infections--hepatitis c--immunological non-response
Аннотация: In HIV-positive individuals taking antiretroviral therapy, coinfection with hepatitis C virus (HCV) increases systemic inflammation, which interferes with the CD4+ T-cells regeneration. This study evaluated the effect of HCV eradication on systemic inflammation and CD4+ T-cell regeneration in patients who gave poor response to antiretroviral therapy, the so-called “immunological non-responders” (INRs). HIV-infected patients who received a course of direct-acting antivirals for treating hepatitis C were examined. The control groups included HIV/HCV-coinfected INRs and relatively healthy volunteers. It was established for the first time that HCV eradication is not accompanied by a complete suppression of systemic inflammation, but improves the T-cell pool composition: in INRs, the blood CD4+/CD8+ T-lymphocyte ratio increases and approaches those of healthy individuals. Apparently, in INRs treated for hepatitis C, the immune system recovery takes time and may be incomplete.
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5.

Вид документа :
Шифр издания :
Автор(ы) : Sobolevskaya P. A., Gvozdeckii A. N., Kudryavtsev I. V., Chereshnev V. A., Сhurilov L. P.
Заглавие : Th17-lymphocytes and their cytokines in pathogenesis of autoimmune thyroiditis, aсcompanied by psychiatric disorders
Место публикации : 9th International Congress of Pathophysiology and 5th Congress of Physiological Sciences of Serbia with International Participation. Final Program and Abstract Book. - Kragujevac, 2023. - С. 50
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Ключевые слова (''Своб.индексиров.''): autoimmune thyroiditis--psychiatric disorders--lymphocytes
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6.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Shinwari K., Bolkov M. A., Akbar M. A., Liu Guojun, Дерябина С. С., Тузанкина И. А., Черешнев В. А.
Заглавие : In silico analysis revealed five novel high-risk single-nucleotide polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE gene causing autosomal dominant severe congenital neutropenia 1 and cyclic hematopoiesis
Место публикации : The Scientific World Journal. - 2022. - Ст.3356835 (16 pp.)
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
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7.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Shinwari K., Liu G., Bolkov M. A., Tuzankina I. A., Chereshnev V. A.
Заглавие : Checking gene expression profile associated with IRF7 and UNC93B deficient patient peripheral blood mononuclear cells infected with pH1N1 influenza virus
Место публикации : AIP Conference Proceedings. - 2022. - Vol. 2390, № 1. - Ст.030089
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Ключевые слова (''Своб.индексиров.''): viruses--microarrays--genomics
Аннотация: An innate immune defect is a defect in the innate immune response that reduces the response to infection, this can occurs in genes important for activation regulation and proliferation of the innate immune cells or pathways important for the function of innate immunity. The purpose of this study was to identify novel biomarkers of interferon Receptor 7 through bioinformatics analysis and elucidate the possible molecular mechanism. The GSE 66486 datasets containing microarray data from IRF7 and UNC93B patients and healthy controls were downloaded from the GEO database and analyzed by the GEO2R web tool to obtain different expressed genes (DEGs). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, protein-protein interaction (PPI), and Biological Networks Gene Oncology tool (BiNGO) were then performed to elucidate the molecular mechanism of IRF7. A total of 490 DEGs were identified, of which 14 were hub genes, and involved in ribosome biogenesis, rRNA processing, gene expression, mRNA processing, nuclear lumen, intracellular non-membrane-bounded organelle, nucleoplasm, small-subunit processome, antigen processing and presentation pathway, and ribosome biogenesis in eukaryotes. Antigen processing and presentation pathway, and ribosome biogenesis in eukaryotes possibly form the basis of IRF7 or UNC93B disorders, while our study provides a list of genes and pathways that are disrupted in IRF7/UNC93B, which has the potential to be used in the clinic for diagnosis and targeted therapy of such disorders in future.
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8.

Вид документа : Статья из журнала
Шифр издания : 61/I-34
Автор(ы) : Shinwari K., Chen Z., Liu Guojun, Chen L., Bolkov M. A., Tuzankina I. A., Chereshnev V. A.
Заглавие : Identification of the immune subtype among muscle-invasive bladder cancer patients by multiple datasets
Место публикации : Acta Medica Indonesiana. - 2022. - Vol. 54, № 1. - С. 62-71
ББК : 61
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Ключевые слова (''Своб.индексиров.''): molecular subtype--immunotherapy--mibc
Аннотация: Background: Immunotherapies including PD-1/PD-L1 antibodies have been approved for the treatment of Muscle-invasive Bladder Cancer (MIBC) patients. However, immunotherapies could only be beneficial for about 20% MIBC patients. Thus, identification of the immune subtype is becoming increasingly important. This study aimed to explore the immune subtype by analyzing the gene expression profiles. Methods: A total of 6 datasets including (GSE13507, GSE31684, GSE32548, GSE32894, GSE69795, and TCGA-BLCA) were downloaded. The gene expression profiles from different datasets were combined since the batch effects were removed. We performed unsupervised clustering analysis to identify the immune subtype by the combined gene expression profiles. The tumor-infiltration levels of 22 immune cells, immune scores, and tumor purity were calculated, and the survival analysis was performed to investigate the prognosis difference between immune subtypes. The enriched pathways for each immune subtype were obtained. Results: We identified four novel immune subtypes (referred to S1, S2, S3, and S4) among MIBC patients. We found that S1 was enriched in immune scores had the best prognosis. In contrast, S3 was poor in immune scores and had the worst prognosis. Subtype S1, S2, S3, and S4 were enriched in immune-related pathways, extracellular matrix-related pathways, metabolism-related pathways, and cancer-related pathways, respectively. Conclusion: The current study suggests that the immune subtypes based on gene expression profiles could contribute to select the appropriate MIBC patient for immunotherapies.
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9.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Shinwari K., Rehman H., Liu Guojun, Bolkov M. A., Tuzankina I. A., Chereshnev V. A.
Заглавие : Novel disease-associated missense single-nucleotide polymorphisms variants predication by algorithms tools and molecular dynamics simulation of human TCIRG1 gene causing congenital neutropenia and osteopetrosis
Место публикации : Frontiers in Molecular Biosciences. - 2022. - Vol. 9. - Ст.879875
Предметные рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Аннотация: T Cell Immune Regulator 1, ATPase H + Transporting V0 Subunit A3 (TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H + -ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. Single amino acid changes in highly conserved areas of the TCIRG1 protein have been linked to autosomal recessive osteopetrosis and severe congenital neutropenia. We used multiple computational approaches to classify disease-prone single nucleotide polymorphisms (SNPs) in TCIRG1. We used molecular dynamics analysis to identify the deleterious nsSNPs, build mutant protein structures, and assess the impact of mutation. Our results show that fifteen nsSNPs (rs199902030, rs200149541, rs372499913, rs267605221, rs374941368, rs375717418, rs80008675, rs149792489, rs116675104, rs121908250, rs121908251, rs121908251, rs149792489 and rs116675104) variants are likely to be highly deleterious mutations as by incorporating them into wild protein they destabilize the wild protein structure and function. They are also located in the V-ATPase I domain, which may destabilize the structure and impair TCIRG1 protein activation, as well as reduce its ATPase effectiveness. These mutants have not yet been identified in patients suffering from CN and osteopetrosis while (G405R, R444L, and D517N) reported in our study are already associated with osteopetrosis. Mutation V52L reported in our study was identified in a patient suspected for CN. Finally, these mutants can help to further understand the broad pool of illness susceptibilities associated with TCIRG1 catalytic kinase domain activation and aid in the development of an effective treatment for associated diseases.
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10.

Вид документа : Однотомное издание
Шифр издания :
Автор(ы) : Zhou H., Zhang Z., Dobrinina M., Dong Y., Kang Z., Chereshnev V., Hu D., Zhang Z., Zhang J., Sarapultsev A.
Заглавие : Urinalysis, but not blood biochemistry, detects the early renal impairment in patients with COVID-19
Место публикации : Diagnostics. - 2022. - Vol. 12, № 3. - Ст.602 (13 pp.)
Ключевые слова (''Своб.индексиров.''): covid 19--коронавирус--urinalysis
Аннотация: Coronavirus 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus (SARS-CoV-2), has created a tremendous economic and medical burden. The prevalence and prognostic value of SARS-CoV-2-induced kidney impairment remain controversial. The current study aimed to provide additional evidence on the incidence of acute kidney injury (AKI) in COVID-19 patients and propose the use of urinalysis as a tool for screening kidney impairment. Methods: 178 patients with confirmed COVID-19 were enrolled in this retrospective cohort study. The laboratory examinations included routine blood tests, blood biochemical analyses (liver function, renal function, lipids, and glucose), blood coagulation index, lymphocyte subset and cytokine analysis, urine routine test, C-reactive protein, erythrocyte sedimentation, and serum ferritin. Results: No patient exhibited a rise in serum creatinine or Cystatin C and occurrence of AKI, and only 2.8% of patients were recorded with an elevated level of blood urea nitrogen among all cases. On the contrary, 54.2% of patients who underwent routine urine testing presented with an abnormal urinalysis as featured by proteinuria, hematuria, and leucocyturia. Conclusions: Kidney impairment is prevalent among COVID-19 patients, with an abnormal urinalysis as a clinical manifestation, implying that a routine urine test is a stronger indication of prospective kidney complication than a blood biochemistry test.
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