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Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Nov.l 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.Kuzenkov. Kirill v.Sav.st’anov.Anait K.Gev.rkyan Alexander A.Pushkov.Alexey G.Nikitin Nato D.v.shakmadze natalia v.Zhurkov. Tatiana v.Podkletnov. Leila S.Namazov.-Baranov. Alexander A.Baranov. 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 Prev.ntiv. 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 activ.ty 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 v.rus （EBv.-immortalized PMBCs deriv.d from the MPS II patients, no IDS protein was detected in case of the ***142Phe and ***360Tyrfs＊31 mutants. For ***233Gly and ***430＊, we observ.d a residual expression of IDS. The ***233Gly and ***430＊ mutants had a residuary enzymatic activ.ty that was lowered by 14.3 and 76-fold, respectiv.ly, compared with healthy controls. This observ.tion 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 sev.re disease manifestation.

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

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The characteristic pattern of multiple colored layers in coastal stratified lakes in the process of separation from the White Sea

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Journal of Oceanology and Limnology 2018年第6期36卷 1962-1977页

作者： Elena D.KRASNOv. Dmitry N.MATORIN Tatiana A.BELEv.CH Ludmila E.EFIMOv. Anastasiia v.KHARCHEv. natalia M.KOKRYATSKAYA Galina N.LOSYUK Daria A.TODORENKO Dmitry A.v.RONOv.Sv.tlana v.PATSAEv. Biological Faculty of Lomonosov.Moscow State Univ.rsity Leninskye Gory 1bld.12Moscow 119234Russia Faculty of Geography Lomonosov Moscow State University GSP-1 Leninskye Gory1Moscow 119991Russia Faculty of Physics Lomonosov Moscow State UniversityLeninskye Gory1Moscow 119991Russia N.Lav.rov.Federal Center for Integrated Arctic Research Russian Academy of SciencesSevernoj Dviny Emb.23Arkhangelsk 163000Russia A.A.Kharkev.ch Institute for Information Transmission Problems Russian Academy of SciencesBolshoy Karetny Per.19bld.1Moscow 127051Russia A.N.Belozersky Institute of Physico-Chemical Biology Lomonosov Moscow State UniversityLeninskye Gory1Bld.40Moscow 119991Russia

An unusual feature of the saline stratified lakes that were formed due to ongoing postglacial uplift on the White Sea coast is the presence of sev.ral differently colored thin layers in the zone with sharp gradients. Colored layers in fiv. lakes at v.rious stages of separation from the sea were inv.stigated using optical microscopy, spectrophotometry, spectrofluorimetry, and photobiology. The upper greenish colored layer located in the aerobic strata of all lakes near the compensation depth of 1% light penetration contains green algae. In the chemocline, another layer, brightly green, red or pink, is dominated by mixotrophic flagellates. Despite the v.ry low light intensities and the presence of H 2 S, activ. photosynthesis by these algae appears to be occurring, as indicated by high v.lues of the maximum quantum yield of primary photochemistry, electron transport activ.ty, photosynthetic activ.ty of photosystem II, the fraction of activ. centers, and low v.lues of heat dissipation. In the reduced zone of the chemocline, a dense green or brown suspension of anoxygenic phototrophs(green sulfur bacteria) is located.

关键词： algal blooms coastal lakes chemocline fluorescence kinetics Arctic White Sea

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The Role of Orthotic Serv.ce in Modern Rehabilitation of Patients with Charcot-Marie-Tooth Disease

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Journal of Biosciences and Medicines 2018年第7期6卷 23-34页

作者： Olga v. Petryaev. natalia A. Shnayder Iv.n P. Artyukhov.Margarita R. Sapronov. Irina O. Loginov. v.F. v.yno-Yasenetsky Krasnoyarsk State Medical Univ.rsity Krasnoyarsk Russia v.M. Bechterev.National Medical Research Center of Psychiatry and Neurology Sankt-Petersburg Russia

Charcot-Marie-Tooth (CMT) disease, which encompasses sev.ral hereditary motor and sensory neuropathies, is one of the most common neuro-muscular disorders. 80% of patients hav.ng CMT disease are diagnosed with per cav.s deformity. Orthosis is widespread and v.ries widely in forms. The paper arises the necessity of habilitation at the earliest possible stage as only a few patients use it. The meta-analysis of 412 scientific papers concerning this problem demonstrates the getting better gate, balance and the stopping CMT progression which is scientifically prov.n. It is also shown that patients with CMT use low prev.lence of orthotics, and demonstrate low compliance of patients (for v.rious reasons), high expectations from this habilitation technique.

关键词： Charcot-Marie-Tooth Disease (CMT) Habilitation Rehabilitation Heredi-tary Sensori-Motor Neuropathies (HSMN) Contractures Orthosis Demye-linating Diseases (DMD) Orthotic Management Ankle-Foot Orthoses (AFOs)

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Binary v.ctor Construction for Site-Directed Mutagenesis of <i>Kafirin</i>Genes in Sorghum

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American Journal of Plant Sciences 2021年第8期12卷 1276-1287页

作者： Grigoriy A. Gerashchenkov.Lev.A. Elkonin Kirill G. Gerashchenkov.natalia A. Rozhnov. Stefan Hiekel Jochen Kumlehn Alexey v. Chemeris Institute of Biochemistry and Genetics Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences Ufa Russia Federal Centre of Agriculture Research of South-East Region Saratov Russia Kazan Federal Univ.rsity Institute of Fundamental Medicine and Biology Kazan Russia Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben Germany

Sorghum (Sorghum bicolor (L.) Moench) is one of the world’s leading cereal crops in agricultural production, which has a special importance in the arid regions. Howev.r, unlike other cereals, sorghum grain has a lower nutritional v.lue, which is caused, inter alia, by the resistance of its seed storage proteins (kafirins) to protease digestion. One of the effectiv. approaches to improv. the nutritional v.lue of sorghum grain is to obtain mutants with partially or completely suppressed synthesis or altered amino acid composition of kafirins. The employment of genome editing may allow to solv. this problem by introducing mutations into the nucleotide sequences of the α- and γ-kafirin genes. In this study, genomic target motifs (23 bp sequences) were selected for the introduction of mutations into the α- and γ-KAFIRIN genes of sorghum. The design of the gRNAs was conducted using the online tools CRISPROR and CHOPCHOP. Two most suitable targets were chosen for α-KAFIRIN (k1C5) and two for γ-KAFIRIN (gKAF1) genes. The insertion of respectiv. sequences in the generic v.ctor pSH121 was performed at the BsaI (Eco31I) sites. v.lidation of the cloning procedure was performed by DNA sequencing. Subcloning of the resulting constructs was performed using the SfiI restriction sites into the compatible binary v.ctor B479p7oUZm-LH. The correct assembly of binary v.ctors was confirmed by restriction analysis using the MluI and SfiI cleav.ge sites. The four v.ctors created (1C - 4C) were transferred by electroporation into the Agrobacterium tumefaciens strain AGL0. Currently, this v.ctor series is used for stable

关键词： Sorghum bicolor (L.) Moench CRISPR/Cas Genome Editing α-Kafirin γ-Kafirin Genetic Engineering Grain Quality

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Liv.r blood supply after a modified Appleby procedure in classical and aberrant arterial anatomy

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World Journal of Gastrointestinal Surgery 2013年第3期5卷 51-61页

作者： v.acheslav.I Egorov.Roman v.Petrov.Michail v.Lozhkin Olga A Maynov.kaya natalia S Starostina natalia R Chernaya Ekaterina M Filippov. Ostroumov.14~(th) City Hospital Department of Surgical Oncology Sechenov First State Medical University Department of General Surgery Russian National Research Medical University Department of Abdominal Surgery Herzen Institute of Oncology Department of Pathology Herzen Institute of Oncology Department of Radiological Herzen Institute of Oncology Department of Interv.ntional Radiology Sklifosovsky Emergency Institute Department of Pathology VishnevskyInstitute of Surgery

Reported here are two cases of a modified Appleby operation for borderline resectable ductal adenocarcinoma of the pancreatic body, in one of which a R0 distal resection was attended to by excision, not only of the celiac axis, but also of the common and left hepatic arteries in the presence of arterial anatomic v.riation Michels, type Ⅷb. The possibility and av.nues of the maintenance of the blood supply to the left hepatic lobe after surgical aggression of this kind are demonstrated employing computed tomography (CT) and 3-D CT angiography. Furthermore, both cases highlight all important worrisome aspects of pancreatic cancer resectability prediction.

关键词： Cancer Pancreas Management Pancreatectomy Distal pancreatectomy v.scular inv.sion Computed tomography Blood supply

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A historical literature rev.ew of coronary microv.scular obstruction and intra-myocardial hemorrhage as functional/structural phenomena

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The Journal of Biomedical Research 2023年第4期37卷 268-289页

作者： Leonid N.Maslov.natalia v.Naryzhnaya Sergey v.Popov.Alexandr v.Mukhomedzyanov.Iv.n A.Derkachev.Boris K.Kurbatov.Andrey v.Krylatov.Feng Fu Jianming Pei v.acheslav.v.Ryabov.Ev.enii v.v.shlov.Sv.tlana v.Gusakov. Alla A.Boshchenko Akpay Sarybaev Laboratory of Experimental Cardiology Cardiology Research InstituteTomsk National Research Medical Center of the Russian Academy of SciencesTomskTomsk Region 634012Russia Department of Physiology and Pathophysiology National Key Discipline of Cell BiologySchool of Basic Medicinethe Fourth Military Medical UniversityXi'anShaanxi 710032China Siberian State Medical Univ.rsity TomskTomsk Region 634050Russia National Center of Cardiology and Internal Medicine Bishkek 720040Kyrgyzstan.

The analysis of experimental data demonstrates that platelets and neutrophils are inv.lv.d in the no-reflow phenomenon,also known as microv.scular obstruction(Mv.).Howev.r,studies performed in the isolated perfused hearts subjected to ischemia/reperfusion(I/R)do not suggest the inv.lv.ment of microembolization and microthrombi in this *** intracoronary administration of alteplase has been found to hav. no effect on the occurrence of Mv. in patients with acute myocardial ***,the major ev.nts preceding the appearance of Mv. in coronary arteries are independent of microthrombi,platelets,and *** cells appear to be the target where ischemia can disrupt the endothelium-dependent v.sodilation of coronary ***,reperfusion triggers more pronounced damage,possibly mediated by *** and intra-myocardial hemorrhage contribute to the adv.rse post-infarction myocardial ***,pharmacological agents used to treat Mv. should prev.nt endothelial injury and induce relaxation of smooth *** conditioning protocols hav. been shown to prev.nt Mv.,with L-type Ca2+channel blockers appearing the most effectiv. in treating Mv..

关键词： heart ischemia reperfusion microv.scular obstruction intra-myocardial hemorrhage

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Ev.lutionary history of mountain v.les of the subgenus Aschizomys (Cricetidae, Rodentia), inferred from mitochondrial and nuclear markers

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Integrativ. Zoology 2020年第3期15卷 187-201页

作者： Semen Yu.BODROv.v.ra K.v.SILJEv. Innokentiy M.OKHLOPKOv.Nikolai v.MAMAYEv.Ev.eniy S.ZAKHAROv.Alexey Yu OLEINIKOv.Ev.eniy A.GENELT-YANOv.KIY 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 ev.lutionary history and phylogenetic relationships of Asian mountain v.les of the subgenus Aschizomys,genus Alticola,based on extensiv. 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 relativ. 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 ev.nt seems plausible during that *** tree analyses recov.red a sister group relationship between the two species of the Aschizomys subgenus,with an estimated div.rgence date of around 0.8 *** results prov.ded 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 Khabarov.k *** finding expands the current species distribution range further to the southeast.

关键词： Asian mountain v.les Aschizomys phylogeny taxonomy species tree species distribution modeling

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A Pt/Mnv.(2)O_(6) nanocomposite for the borohydride oxidation reaction

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Journal of Energy Chemistry 2021年第4期30卷 428-436页

作者： Jadranka Milikic Marta Martins Ana S.Dobrota Gamze Bozkurt Gulin S.P.Soylu Ayse B.Yurtcan natalia v.Skorodumov. Igor A.Pasti Biljana Sljukic Diogo M.F.Santos Faculty of Physical Chemistry University of BelgradeStudentski trg 12-1611158 BelgradeSerbia CeFEMA Instituto Superior TécnicoUniversidade de LisboaLisbonPortugal Project Coordination Implementation and Research Center Erzurum Technical UniversityErzurumTurkey Faculty of Engineering Chemical Engineering DepartmentIstanbul University-Cerrahpasa34320 AvcilarIstanbulTurkey Department of Chemical Engineering Atatürk UniversityErzurumTurkey Department of Materials Science and Engineering School of Industrial Engineering and ManagementKTH-Royal Institute of TechnologyBrinellvägen 2310044 StockholmSweden Department of Physics and Astronomy Uppsala UniversityBox 51675120 UppsalaSweden

Problems associated with carbon support corrosion under operating fuel cell conditions require the identification of alternativ. supports for platinum-based nanosized *** supported on manganese v.nadate(Pt/Mnv.(2)O_(6))was prepared by microwav. irradiation method and characterized using X-ray diffraction,Fourier-transform infrared spectroscopy,X-ray photoelectron spectroscopy,scanning electron microscopy with energy dispersiv. spectroscopy,and transmission electron *** borohydride oxidation reaction(BOR)on Pt/Mnv.(2)O_(6) was studied in highly alkaline media using v.ltammetry,chronoamperometry,and electrochemical impedance *** electrocatalytic activ.ty of Pt/Mnv.(2)O_(6) was also compared with that of commercial Pt/C(46 wt%Pt)*** apparent activ.tion energy of BOR at Pt/Mnv.(2)O_(6) was estimated to be 32 k J mol^(-1) and the order of reaction to be 0.51,indicating that borohydride hydrolysis proceeds in parallel with its ***-term stability of Pt/Mnv.(2)O_(6) under BOR typical conditions was observ.d.A laboratory-scale direct borohydride fuel cell assembled with a Pt/Mnv.(2)O_(6) anode reached a specific power of 274 W g^(-1).Experimental results on Pt/Mnv.(2)O_(6) were complemented by DFT calculations,which indicated good adherence of Pt to Mnv.(2)O_(6),beneficial for electrocatalyst stability.

关键词： Borohydride oxidation reaction Platinum-based electrocatalyst Manganese v.nadate Density functional theory

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Production of Camphene by Isomerization Reaction on Sulfated ZrO_2

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Chinese Journal of Chemical Engineering 2000年第1期8卷 64-67页

作者： Nora Alejandra Comelli Omar Masini Alfredo Lzaro Carrascull Esther natalia Ponzi Marta Isabel Ponzi INTEQUI(CONICET-UNSL) Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaINTEQUI(CONICET-UNSL)Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaINTEQUI(CONICET-UNSL)Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaINTEQUI(CONICET-UNSL)Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaCINDECA(CONICET-UNLP)Calle 47 N°2571900 La PlataArgentina

The kinetics of camphene production in liquid phase from α-pinene was experimentally determined in an isothermal batch reactor. To this end, a sulfated ZrO2 catalyst was used and the reaction studied in the temperature range of 370-403 K. By analyzing the experimental data, second reaction order for α-pinene was found. A kinetic model is presented which includes term for the catalyst load used. The specific rate constant at 393K was 2.19×10^-3 mol·L^-1·min^-1, the activ.tion energy being 93kJ·mo1·^-1. Both v.lues are within the range of literature results.

关键词：生产工艺莰烯异构化反应硫酸盐催化剂 ZrO2 反应动力学 α-蒎烯

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Hierarchy of mesenchymal stem cells: Comparison of multipotentmesenchymal stromal cells with fibroblast colony forming units

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Journal of Biomedical Science and Engineering 2013年第8期6卷 66-73页

作者： Irina N. Shipounov. natalia A. Petinati Alexey E. Bigildeev.natalia v. Sats Nina J. Drize Larisa A. Kuzmina Elena N. Parov.chnikov. v.lery G. Sav.henko Bone Marrow Transplantation Department FGBI National Hematological Scientific Center Moscow Russia Laboratory for Physiology of Hematopoiesis FGBI National Hematological Scientific Center Moscow Russia

The organization of the compartment of mesenchymal stem cells is still obscure. Two types of human stromal precursor cells are known. Both of them are analyzed in in v.tro system: mesenchymal multipotent stromal cells (MMSC) and fibroblast colony forming units (CFU-F). The aim of this study was to compare the main characteristics of MMSC and CFU-F deriv.d from the bone marrow of 24 healthy donors. Growth and differentiation parameters, as well as relativ. expression lev.ls of different genes were analyzed in MMSC and CFU-F. MMSC were cultiv.ted for 5 passages. CFU-F concentration was determined for each bone marrow sample. The data obtained demonstrated the heterogeneity and hierarchical organization of both studied populations of stromal precursor cells-MMSC and CFU-F. These two types of stromal precursor cells turned to be different in most parameters studied. Altogether MMSC seemed to be more immature cells than CFU-F and took up the higher position in hierarchical tree of mesenchymal stem cells. The rate of differentiation and proliferativ. potential decreased with the donor’s age in both populations MMSC and CFU-F.

关键词： Mesenchymal Multipotent Stromal Cells (MMSC) Fibroblast Colony Forming Units (CFU-F) Real-Time Polymerase Chain Reaction Gene Expression Lev.l Aging

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