Search Results - "Zakharova, E Yu"

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology by Voskoboeva, E Yu, Bookina, T M, Semyachkina, A N, Mikhaylova, S V, Vashakmadze, N D, Baydakova, G V, Zakharova, E Yu, Kutsev, S I

“…Mutations in the gene cause deficiency of the lysosomal enzyme alpha-l-iduronidase (IDUA), which leads to a rare disease known as mucopolysaccharidosis type I…”
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Phenotypic Variability of Aphantopus hyperantus and Coenonympha arcania (Lepidoptera: Nymphalidae) in the Vicinity of the Middle Ural Copper Smelter. Part 1. Metal Content and Wing Length by Shkurikhin, A. O., Zakharova, E. Yu, Vorobeichik, E. L.

“…We have tested the hypotheses that the satyrs Aphantopus hyperantus and Coenonympha arcania accumulate metals in higher concentrations near the Middle Ural…”
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Morphological Variability of the Satyrid Butterflies, Aphantopus hyperantus and Erebia ligea (Lepidoptera, Satyridae) in Allopatric and Allochronous Micropopulations by Zakharova, E. Yu, Shkurikhin, A. O.

“…The variability of morphological traits (the shape and size of the forewing and the location, number, and diameter of eyespots in the submarginal band of the…”
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Distribution and Morphological Variations in Coenonympha leander (Lepidoptera, Satyridae) Populations from the Urals by Zakharova, E. Yu

“…The modern distribution of the Western Eurasian subboreal butterfly Coenonympha leander (Esper, 1784) was studied in the Urals region, with its northeastern…”
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Many Faces of a Single Cuboctahedron: Group 10 Metal-rich Ternary Compounds based on the AuCu3 Structure Type (Review) by Kuznetsov, A. N., Stroganova, E. A., Zakharova, E. Yu

“…This review has a goal of highlighting fairly unusual type of inorganic compounds, Group 10 metal-rich linear intergrowth structures based on the AuCu 3 -type…”
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Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases by Pchelina, S.N., Nuzhnyi, E.P., Emelyanov, A.K., Boukina, T.M., Usenko, T.S., Nikolaev, M.A., Salogub, G.N., Yakimovskii, A.F., Zakharova, E. Yu

“…•Alpha-synuclein oligomers can be detected in human plasma.•Increase in oligomeric alpha-synuclein in Gaucher disease (GD) patients vs. controls.•Increase in…”
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The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency by Bychkov, I.O., Kamenets, E.A., Filatova, A.Yu, Skoblov, M.Yu, Mikhaylova, S.V., Strokova, T.V., Gundobina, O.S., Zakharova, E.Yu

“…Lysosomal acid lipase deficiency (LALD; MIM#278000) is a continuum of autosomal recessive diseases caused by defects in the gene LIPA and historically divided…”
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Wing Venation Abnormalities in the Black-Veined White Aporia crataegi L. (Lepidoptera, Pieridae): Insight in Terms of Modern Phenetics by Solonkin, I. A., Zakharova, E. Yu, Shkurikhin, A. O.

“…Patterns of appearance of wing venation abnormalities in the black-veined white Aporia crataegi L. were studied. These abnormalities form four types of…”
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Phenotypic variation of the scarce heath Coenonympha hero (L.) (Lepidoptera, Satyridae) from the central part of its range by Zakharova, E. Yu

“…Variation of the fore and hind wing lengths and the diameters of wing eyespots in two subspecies of Coenonympha hero (L.) from the central part of the species…”
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Solid Solutions PdTe1– xBix (x < 0.8) with the NiAs Structure in the Pd–Bi–Te System by Zakharova, E. Yu, Makhaneva, A. Yu, Kazakov, S. M., Kuznetsov, A. N.

“…Three solid solutions in the Pd–Bi–Te system were obtained by high-temperature ampoule synthesis from the elements at 700°C. The crystal structures of the…”
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Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction by Osipova, D. V., Markova, T. V., Kenis, V. M., Melchenko, E. V., Nagornova, T. S., Nikishina, I. P., Zakharova, E. Yu, Dadali, E. L., Kutsev, S. I.

“…Introduction . Juvenile idiopathic arthritis (JIA) is a common multifactorial disease characterized by the presence of chronic inflammation in the joints,…”
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Adult-Onset Leukoencephalopathy with Vanishing White Matter by Rudenskaya, G. E., Zakharova, E. Yu

“…Leukoencephalopathy with vanishing white matter (LEVWM) is one of the most common hereditary leukoencephalopathies with characteristic MRI picture of diffuse…”
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Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the COMP gene in children by Markova, T. V., Kenis, V. M., Nikitin, S. S., Melchenko, E. V., Nagornova, T. S., Osipova, D. V., Alieva, A. E., Yugeno, Ya. S., Zakharova, E. Yu, Dadali, E. L.

“…Background. Multiple epiphysal dysplasia (MED) type 1 (OMIM: 132400) is one of 7 genetic variants of this group of skeletal dysplasias described to date. The…”
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Variation in Morphophysiological Traits of Male and Female Aporia crataegi L. (Lepidoptera: Pieridae) Depending on the Timing of Adult Emergence by Shkurikhin, A. O., Zakharova, E. Yu, Oslina, T. S., Solonkin, I. A.

“…The correlation between the timing of adult emergence and variation in morphophysiological parameters of males and females has been analyzed in the…”
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Low-penetrance R92Q (p.Arg121Gln) mutation in the TNFRSF1A gene: the significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinumab in a female patient, who is a carrier of R92Q mutation with a severe TRAPS phenotype by Fedorov, E. S., Salugina, S. O., Zakharova, E. Yu, Kamenets, E. A., Gerasimenko, A. N.

“…The paper is devoted to the assessment of the R92Q (p.Arg121Gln) mutation/polymorphism in the TNFRSF1A gene associated with the monogenic autoinflammatory…”
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Morphological variation of Melanargia russiae (Esper, 1783) (Lepidoptera, Satyridae) from the main part of the range and in case of its expansion to the north under climate change conditions by Zakharova, E. Yu, Shkurikhin, A. O., Oslina, T. S.

“…A climate-related shift in the range boundaries of the western–central Eurasian subboreal species Melanargia russiae in the Ural region from the northern…”
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Features of brain electrical activity in adult patients with POLG-related disorders by Fedin, P. A., Nuzhnyi, E. P., Noskova, T. Yu, Seliverstov, Yu. A., Klyushnikov, S. A., Krylova, T. D., Tsygankova, P. G., Zakharova, E. Yu, Illarioshkin, S. N.

“…Introduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain…”
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Chrono–geographical approach to analysis of variability of bicyclic Erebia ligea (L.) (Lepidoptera: Satyridae) species in the Urals by Zakharova, E. Yu, Tatarinov, A. G.

“…The phenotypic variability of a complex of metric traits (the length of fore and hind wings and diameters of wing pattern spots) in populations of…”
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Practical aspects of therapy for glutaric aciduria type 1 by Zakharova, E. Yu, Mikhailova, S. V., Zarubina, V. V., Krasnoshchekova, N. A., Pechatnikova, N. L., Vorontsova, V. P., Gribov, D. I., Zazivihina, M. V., Slatetskaya, А. N., Kurkina, M. V., Baranova, P. V., Nazarenko, L. P., Repina, S. А., Selimsyanova, L. R., Vashakmadse, N. D., Bushueva, T. V.

“…Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder…”
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Human Peripheral Blood Macrophages As a Model for Studying Glucocerebrosidase Dysfunction by Nikolaev, M. A., Kopytova, A. E., Baidakova, G. V., Emel’yanov, A. K., Salogub, G. N., Senkevich, K. A., Usenko, T. S., Gorchakova, M. V., Koval’chuk, Yu. P., Berkovich, O. A., Zakharova, E. Yu, Pchelina, S. N.

“…— Decreased activity of glucocerebrosidase (GCase) as a result of mutations in the GBA gene causes Gaucher’s disease (GD), which belongs to the group of…”
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