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Genetic Analysis of 17 Children with Hunter syndrome:Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-sulfatase Gene

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Journal of Genetics and Genomics 2014年第4期41卷 197-203页

作者： Dimitry A.Chistiakov Lyudmila M.Kuzenkova Kirill v.savost’anov Anait K.Gevorkyan Alexander A.Pushkov Alexey G.Nikitin Nato D.vashakmadze natalia v.Zhurkova Tatiana v.Podkletnova Leila s.Namazova-Baranova Alexander A.Baranove Department of Medical Nanobiotechnology Pirogov Russian State Medical University Department of Molecular and Genetic Diagnostics Division of Laboratory MedicineInstitute of PediatricsResearch Center for Children’s Health Department of Psychoneurology and Psychosomatic Pathology Institute of PediatricsResearch Center for Children’s Health Institute of Preventive Pediatrics and Rehabilitation Research Center for Children’s Health Research Center for Children’s Health

Mucopolysaccharidosis type II （MPs II） is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase （IDs） gene. In this study, IDs activity in peripheral mononuclear blood monocytes （PMBCs） was measured with a fluorimetric enzyme assay. Urinary glycosaminoglycans （GAGs） were quantified using a colorimetric assay. All IDs exons and intronic flanks were bidirectionally sequenced. A total of 15 mutations （all exonic region） were found in 17 MPs II patients. In this cohort of MPs II patients, all alterations in the IDs gene were caused by point nucleotide substitutions or small deletions. Mutations ***88His and ***172＊ occurred twice. All mu- tations were inherited except for ***489Alafs＊7, a germline mutation. We found four new mutations （***142Phe, ***233Gly, ***430＊, and ***360Tyrfs＊31）. In Epstein-Barr virus （EBv）-immortalized PMBCs derived from the MPs II patients, no IDs protein was detected in case of the ***142Phe and ***360Tyrfs＊31 mutants. For ***233Gly and ***430＊, we observed a residual expression of IDs. The ***233Gly and ***430＊ mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold, respectively, compared with healthy controls. This observation may help explain the mild disease phenotype in MPs II patients who had these two mutations whereas the ***142Phe and ***360Tyrfs＊31 mutations caused the severe disease manifestation.

关键词： Hunter syndrome Mucopolysaccharidosis type II Iduronate-2-sulfatase Mutations Glycosaminoglycans

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Involvement of autophagy in alcoholic liver injury and hepatitis C pathogenesis

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World Journal of Gastroenterology 2011年第20期17卷 2507-2514页

作者： natalia A Osna Paul G Thomes Terrence M Donohue University of Nebraska Medical Center VA Medical Center

This review describes the principal pathways of macroautophagy (i.e. autophagy), microautophagy and chaperone-mediated autophagy as they are currently known to occur in mammalian cells. Because of its crucial role as an accessory digestive organ, the liver has a particularly robust autophagic activity that is sensitive to changes in plasma and dietary components. Ethanol consumption causes major changes in hepatic protein and lipid metabolism and both are regulated by autophagy, which is significantly affected by hepatic ethanol metabolism. Ethanol exposure enhances autophagosome formation in liver cells, but suppresses lysosome function. Excessive ethanol consumption synergizes with hepatitis C virus (HCv) to exacerbate liver injury, as alcohol-consuming HCv patients frequently have a longer course of infection and more severe manifestations of chronic hepatitis than abstinent HCv patients. Alcohol-elicited exacerbation of HCv infection pathogenesis is related to modulation by ethanol metabolism of HCv replication. Additionally, as part of this mechanism, autophagic proteins have been shown to regulate viral (HCv) replication and their intracel-lular accumulation. Because ethanol induces autophagosome expression, enhanced levels of autophagic proteins may enhance HCv infectivity in liver cells of alcoholics and heavy drinkers.

关键词： Autophagy Iysosome Autophagosome Hepatitis C virus Hepatitis C virus replication cycle Ethanol

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The role of weather and density dependence on population dynamics of Alpine-dwelling red deer

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Integrative Zoology 2017年第1期12卷 61-76页

作者： Anna BONARDI Luca CORLATTI natalia BRAGALANTI Luca PEDROTTI stelvio National Park BormioItaly Institute of Wildlife Biology and Game Management University of Natural Resources and Life Sciences ViennaViennaAustria Freiburg Institute for Advanced studies and Chair of Wildlife Ecology and Management University of FreiburgFreiburgGermany

The dynamics of red deer Cervus elaphus populations has been investigated across different environmental conditions,with the notable exception of the European *** the population dynamics of mountain-dwelling ungulates is typically influenced by the interaction between winter severity and density,the increase of temperatures and the reduction of snowpack occurring on the Alps since the 1980s may be expected to alter this pattern,especially in populations dwelling at medium-low *** advantage of a 29-year time series of spring count data,we explored the role of weather stochasticity and density dependence on growth rate and vital rates(mortality and weaning success),and the density-dependent variation in body mass in a red deer population of the Italian *** interaction between increasing values of density and snow depth exerted negative and positive effects on growth and mortality rates,respectively,while weaning success was negatively affected by increasing values of density,female-biased sex ratio and snow *** mass of males and females of different age classes declined as population size *** data support the role of winter severity and density dependence as key components of red deer population dynamics,and provide insight into the species’ecology on the European *** the recent decline of snowpack on the Alpine Region,the negative impacts of winter severity and population abundance on growth rrate(possibly mediated by the density-dependent decline in body mass)confirms the importance of overwinter mortality in affecting the population dynamics of Alpine-dwelling red deer.

关键词： climate change demography environmental stochasticity ungulates vital rates

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Aberrant expression of enzymes regulating m^6A mRNA methylation: implication in cancer

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Cancer Biology & Medicine 2018年第4期15卷 323-334页

作者： natalia Pinello stephanie sun Justin Jong-Leong Wong Epigenetics and RNA Biology Program Centenary Institute The University of Sydney sydney Medical school The University of Sydney

N^6-methyladenosine(m^6 A) is an essential RNA modification that regulates key cellular processes, including stem cell renewal,cellular differentiation, and response to DNA damage. Unsurprisingly, aberrant m^6 A methylation has been implicated in the development and maintenance of diverse human cancers. Altered m^6 A levels affect RNA processing, mRNA degradation, and translation of mRNAs into proteins, thereby disrupting gene expression regulation and promoting tumorigenesis. Recent studies have reported that the abnormal expression of m^6 A regulatory enzymes affects m^6 A abundance and consequently dysregulates the expression of tumor suppressor genes and oncogenes, including MYC, sOCs2, ADAM19, and PTEN. In this review, we discuss the specific roles of m^6 A missing space "writers", "erasers", and "readers" in normal physiology and how their altered expression promotes tumorigenesis. We also describe the potential of exploiting the aberrant expression of these enzymes for cancer diagnosis, prognosis, and the development of novel therapies.

关键词： RNA modification N^6-methyladenosine (m^6A) cancer tumor suppressor oncogene

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Evolutionary history of mountain voles of the subgenus Aschizomys (Cricetidae, Rodentia), inferred from mitochondrial and nuclear markers

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Integrative Zoology 2020年第3期15卷 187-201页

作者： semen Yu.BODROv vera K.vAsILJEvA Innokentiy M.OKHLOPKOv Nikolai v.MAMAYEv Evgeniy s.ZAKHAROv Alexey Yu OLEINIKOv Evgeniy A.GENELT-YANOvsKIY natalia I.ABRAMsON Zoological Institute Russian Academy of SciencesSaint PetersburgRussia Institute for Biological Problems of Cryolithozone YakutskSakha Republic(Yakutia)Russia Institute of Water and Ecological Problems KhabarovskRussia saint-Petersburg scientific Center RAs Saint PetersburgRussia

In this study,we present an assessment of the evolutionary history and phylogenetic relationships of Asian mountain voles of the subgenus Aschizomys,genus Alticola,based on extensive sampling and phylogenetic analyses of data from mitochondrial and nuclear *** species of this subgenus are widespread in the mountain areas of north-eastern ***,both their distribution and taxonomic borders remained questionable for more than 100 *** study showed discordance in the phylogenetic patterns between nuclear and mtDNA *** found that mtDNA in *** is paraphyletic relative to ***,but nuclear markers demonstrated reciprocal *** to species distribution modeling,ranges of *** and *** experienced a secondary contact during the Last Glacial Maximum(approximately 22 kyr BP),and thus a hybridization event seems plausible during that *** tree analyses recovered a sister group relationship between the two species of the Aschizomys subgenus,with an estimated divergence date of around 0.8 *** results provided good support for currently recognized subspecies within both *** and *** based on mitochondrial and nuclear datasets.A new,yet undescribed form,supposedly of a subspecific status within ***,was found in the Bureinskiy Range in the Khabarovsk *** finding expands the current species distribution range further to the southeast.

关键词： Asian mountain voles Aschizomys phylogeny taxonomy species tree species distribution modeling

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Adaptive Algorithm for Accelerating Direct Isosurface Rendering on GPU

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Journal of Electronic science and Technology 2018年第3期16卷 222-231页

作者： sergey Belyaev Pavel smirnov vladislav shubnikov natalia smirnova the Department of Applied Mathematics Institute of Applied Mathematics and MechanicsPeter the Great St.Petersburg Polytechnic UniversitySt.Petersburg 195251 EPAM systems Inc. Newtown PA 18940

Direct isosurface volume rendering is the most prominent modern method for medical data *** is based on finding intersection points between the rays corresponding to pixels on the screen and isosurface. This article describes a two-pass algorithm for accelerating the method on the graphic processing unit(GPU). On the first pass, the intersections with the isosurface are found only for a small number of rays, which is done by rendering into a lower-resolution texture. On the second pass, the obtained information is used to efficiently calculate the intersection points of all the other. The number of rays to use during the first pass is determined by using an adaptive algorithm, which runs on the central processing unit(CPU) in parallel with the second pass of the rendering. The proposed approach allows to significantly speed up isosurface visualization without quality loss. Experiments show acceleration up to 10 times in comparison with a common ray casting method implemented on GPU. To the authors’ knowledge, this is the fastest approach for ray casting which does not require any preprocessing and could be run on common GPUs.

关键词： Adaptive algorithms isosurface rendering ray casting volume visualization

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Algorithm for solving problems related to the natural vibrations of electro-viscoelastic structures with shunt circuits using ANsYs data

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International Journal of smart and Nano Materials 2019年第2期10卷 156-176页

作者： Nataliia Iurlova natalia sevodina Dmitrii Oshmarin Maksim Iurlov Institute of Continuous Media Mechanics of the Ural Branch of RAs PermRussian Federation

An algorithm for numerical realisation of a mathematical statement of the natural vibrations problem for electro-viscoelastic bodies with passive external electric circuits(*** circuits)with an arbitrary configuration using the finite element method is proposed in the present *** proposed algorithm allows considering the viscoelastic properties of materials using the model of linear hereditary viscoelasticity with complex dynamic moduli and is used to solve 3D solid structure problems that are compatible for ANsYs package element *** technique implies the usage of the global assembled matrices of stiffness and mass,formed in the ANsYs *** basis of the algorithm is a novel approach that allows performing decomposition of the global assembled stiffness matrix formed in the ANsYs software package into constituents that are needed for calculation of the natural vibration frequencies of the objects under *** matrix components are used in the program that was written in FORTRAN(Formula Translation)*** problem could be efficiently applied for analysis of the dynamic processes in smart systems based on piezoelectric materials and could also form a basis for the development of numerical finite element algorithms for optimization of the dissipative characteristics of electromechanical systems with shunted piezoelectric elements.

关键词： Numerical simulation finite element method electroviscoelasticity piezoelement external electric circuit natural vibrations

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Lake-margin ecosystems of saline lakes of the Borzya group(Zabaikalsky Krai, Russia) during the initial filling phase

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Chinese Journal of Oceanology and Limnology 2014年第4期32卷 871-878页

作者： Evgenia P.GORLACHEvA Gazhit Ts.TsYBEKMITOvA Alexey v.AFONIN Natalya A.TAsHLIKOvA Ekaterina Yu.AFONINA Alexey P.KUKLIN natalia v.sALTANOvA Institute of Natural Resources Ecology and Cryology siberian Branch of Russian Academy of Sciences16 a Nedorezov St Chita 672014Russia

This article presents the results of hydrochemical and hydrobiological studies of shallow saline lakes of the Borzya group(Zabaikalsky Krai, Russia) at the initial filling phase. The lake-margin ecosystems of the studied lakes are characterized by varying degrees of salinity from polyhaline to brine water. Cyclical variations of meteorological conditions and high salinity determined that the compositions of the aquatic organisms are specific, mostly between stenohaline and euryhaline species, the quantities are low, and the community structures are simple.

关键词： saline lakes hydrochemistry weeds zooplankton zoobenthos

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Correction:Impact of Transition Metal Layer vacancy on the structure and Performance of P2 Type Layered sodium Cathode Material

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Nano-Micro Letters 2024年第12期16卷 532-532页

作者： Orynbay Zhanadilov sourav Baiju natalia voronina Jun Ho Yu A-Yeon Kim Hun-Gi Jung Kyuwook Ihm Olivier Guillon Payam Kaghazchi seung-Taek Myung Department of Nanotechnology and Advanced Materials Engineering and sejong Battery Institute Hybrid Materials Research CenterSejong University98 Gunja-DongGwangjin-GuSeoul 05006South Korea Institute of Energy and Climate Research-Materials synthesis and Processing(IEK-1) Forschungszentrum Jülich GmbH52425 JülichGermany Center for Energy storage Research Korea Institute of Science and TechnologySeoul 02792South Korea KIsT-sKKU Carbon-Neutral Research Center Sungkyunkwan UniversitySuwon 16419South Korea Department of Energy science Sungkyunkwan UniversitySuwon 16419South Korea Pohang Accelerator Laboratory 80 Jigokro-127-BeongilNam-GuPohangGyeongbuk 37673South Korea MEsA+Institute for Nanotechnology University of Twente7500 AE EnschedeThe Netherlands

Following publication of the original article[1],the authors reported that the author Hun-Gi Jung should be affiliated as 3,4 and 5 instead of 4 and *** author’s name“A.-Yeon Kim”needed to be updated to“A-Yeon Kim”,removing the *** correct author’s name and affiliation have been provided in this *** original article[1]has been corrected.

关键词： removing Transition Impact

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Algorithm for the layout of a piezoelectric element in an elastic medium providing the maximal piezoelectric effect within a specified frequency range

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International Journal of smart and Nano Materials 2019年第4期10卷 268-284页

作者： Dmitrii Oshmarin Nataliia Iurlova natalia sevodina Maksim Iurlov Department of complex problems of deformable solids mechanics Institute of Continuous Media Mechanics of the Ural Branch of RASPermRussian Federation

An algorithm for the layout of a piezoelectric that provides the most efficient performance within a specified range of vibration frequencies is proposed in this *** algorithm is based on the consideration of a special parameter within the area of a piezoelectric element’s possible *** parameter characterizes the superposition of electromechanical coupling coefficients’for all the natural vibration frequencies included in a specified frequency *** condition for defining the best option for location of the piezoelectric element in the case of several equivalent positions is *** efficiency of the proposed algorithm is shown *** electromechanical coupling coefficients were calculated numerically based on solution to the problem of natural vibrations for electroelastic bodies using a finite element *** calculations were performed to define the best location for a single piezoelectric element at the surface of a thin-walled shell having a half-cylindrical *** results are presented for natural vibration frequencies within the frequency range from 0 up to 1100 *** numerical results were obtained by solving the problem of natural vibrations with a finite element method using the ANsYs software package.

关键词： Piezoelectric element’s layout natural vibrations continuous frequency range electromechanical coupling coefficient

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