Центральная Научная Библиотека УрО РАН

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   S 61


    Simulation of the interferon-mediated protective field in lymphoid organs with their spatial and functional organization taken into consideration / G. A. Bocharov, A. A. Danilov, Y. Vassilevski , V. A. Chereshnev // Doklady Biological Sciences. - 2011. - Vol. 439, № 1. - P194-196. - Bibliogr. : p. 196 (10 ref.)

ББК 61
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Кл.слова (ненормированные):
ALPHA INTERFERON -- CYTOKINE -- CYTOLOGY

\\\\expert2\\NBO\\Doklady Biological Sciences\\2011. V. 439, N 1.P. 194-196.pdf
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    In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function / K. Shinwari, Y. Wu, H. Rehman [et al.] // BMC Bioinformatics. - 2023. - Vol. 24. - Ст. 251
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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    Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation / K. Shinwari, H. Rehman, N. Xiao [et al.] // Informatics in Medicine Unlocked. - 2023. - Vol. 37. - Ст. 101160 (14 pp.)
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Кл.слова (ненормированные):
HENNEKAM SYNDROME -- PRIMARY IMMUNODEFICIENCY -- FAT4 MISSENSE SNP

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   A 88

    Chereshnev, V. A.
    Assessing the economic efficiency of socially oriented government programs by simulation modeling methods / V. A. Chereshnev, A. V. Vasil'eva, B. A. Korobitsyn // Economic Analysis: Theory and Practice. - 2017. - Vol. 16, № 1. - P174-187

ББК 65
Рубрики: ЭКОНОМИКА. ЭКОНОМИЧЕСКИЕ НАУКИ

\\\\Expert2\\NBO\\Economic Analysis Theory and Practice\\2017 V 16 N 1 P. 174-187.pdf
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    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 / K. Shinwari, H. Rehman, H. Liu Guojun [et al.] // Frontiers in Molecular Biosciences. - 2022. - Vol. 9. - Ст. 879875
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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