Search Results - "Gorovenko, G G"

Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine by Olkhovych, N V, Gorovenko, N G

“…The pseudodeficiency of lysosomal hydrolases described as a significant reduction in enzyme activi­ty in vitro in clinically healthy individuals, can lead to…”
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DIFFERENTIATION OF NORM AND PATHOLOGY DURING SELECTIVE BIOCHEMICAL SKREENING OF LYSOSOMAL STORAGE DISEASES WITH INCREASED EXCRETION OF OLIGOSACCHARIDES by Mytsyk, N Y, Olkhovych, N V, Gorovenko, N G

“…Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal…”
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Comparative evaluation of genetic risk models of reproductive disorders caused by MTHFR, MTRR, MTR1 gene polymorphism by Rossokha, Z. І., Kyriachenko, S. P., Gorovenko, N. G.

“…The scientific literature presents contradictory data about influence of folate metabolism genes polymorphism on development of risk of reproductive disorders…”
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Genetic predictors of development risk of combined caries and chronic catarrhal gingivitis course in children by Trubka, I. O., Rossokha, Z. I., Kyriachenko, S. P., Savychuk, N. O., Gorovenko, N. G.

“…The purpose of this work was to determine the role of the genetic component in the development of the combined course of caries and gingivitis in children…”
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Association between rankl [RS9594759] and IL10 [RS1800896] Genes polymorphism and deciduous tooth eruption terms in Ukrainians born macrosomic by Garmash, Olga V, Rossokha, Zoia I, Gorovenko, Nataliya G

“…The aim: The article deals with analyzing the influence of polymorphic variants of CYP19A1 [rs2414096, rs936306], ESR1 [rs2234693, rs9340799], IL1 [rs1143627],…”
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CYP2C192 gene variant (G681A, rs4244285) as a prognostic marker for the clinical course of multiple myeloma by Kostiukova, N I, Fishchuk, L Ye, Rossokha, Z I, Medvedieva, N L, Andreieva, S V, Bloshchinska, S V, Popova, O F, Vydyborets, S V, Gorovenko, N G

“…Multiple myeloma (MM) is the most common type of paraproteinemic hemoblastosis, which is characterized by an aggressive course, high mortality and a large…”
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ESR1 gene variants affect FSHR-depended risk of fibrocystic mastopathy in infertile women by Kornatska, A G, Rossokha, Z I, Fishchuk, L Ye, Dubenko, O D, Medvedieva, N L, Flaksemberg, М А, Chubei, G V, Popova, O F, Gorovenko, N G

“…The infertile women have an increased risk of developing benign and malignant tumors, in particular, breast cancer. Most studies have examined the role of gene…”
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A variant of TP53 gene (rs 1625895, 13494g>A) is associated with neoplasm localization in patients with uterine leiomyoma by Kornatska, A G, Flaksemberg, М А, Chubei, G V, Trokhymovych, О V, Rossokha, Z I, Fishchuk, L Ye, Medvedieva, N L, Vershyhora, V O, Gorovenko, N G

“…Uterine leiomyoma (UL) is the most common benign neoplasm of the uterus. It is still unknown surely what exactly initiates transformation of the uterine…”
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Variation in particular biochemical indicators, cytokine and adipokine profiles of the blood, and the structural and functional parameters of the liver in patients with nonalcoholic fatty liver disease and different genotypes by the polymorphic locus A313G of the GSTP1 gene by Prysyazhnyuk, V. P., Rossokha, Z. I., Gorovenko, N. G.

“…Variation in particular biochemical indicators, cytokine and adipokine profile parameters of the blood, and the structural and functional parameters of the…”
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Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries by Lugowska, Agnieszka, Amaral, Olga, Berger, Johannes, Berna, Linda, Bosshard, Nils U., Chabas, Amparo, Fensom, Anthony, Gieselmann, Volkmar, Gorovenko, Natalia G., Lissens, Willy, Mansson, Jan-Eric, Marcao, Ana, Michelakakis, Helen, Bernheimer, Hanno, Ol’khovych, Natalia V., Regis, Stefano, Sinke, Richard, Tylki-Szymanska, Anna, Czartoryska, Barbara

“…In this multicentre study, we examined the prevalence of two mutations in the arylsulfatase A (ARSA) gene, i.e., c.459 + 1G > A and p.P426L, in 384 unrelated…”
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Genetic polymorphisms of the renin-angiotensin system in breast cancer patients by Fishchuk, L E, Gorovenko, N G

“…Breast cancer (BC) is one of the most common cancer pathologies in women. Genetic polymorphism of genes of renin-angiotensin system (RAS) is considered to be…”
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Major mutation p.His281Tyr in Gene GLB1 in patients with GM1-gangliosidosis in Ukraine by Mytsyk, N. Y., Olkhovych, N. V., Gorovenko, N. G.

“…Mutation analysis of gene GLB1 in 26 patients from different regions of Ukraine diagnosed with GM1-gangliosidosis identified 15 pathogenic mutations. The most…”
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Spectrum of mutations in patients with organic acidurias from Ukraine by Barvinska, O. I., Olkhovych, N. V., Shkurko, T. O., Gorovenko, N. G.

“…Aim. To identify mutations in patients from Ukraine with glutaric aciduria I, isolated methylmalonic aciduria, and isovaleric aciduria. Methods. Sanger…”
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Identification and characterization of six new mutations in GLB1 gene in Ukrainian patients with GM1 gangliosidosis and Morquio B disease by Mytsyk, N. Y., Gorovenko, N. G.

“…GM1-gangliosidosis (MIM# 230500) and mucopolysaccharidosis IV (Morquio B, MIM# 230500) are autosomal-recessive diseases, which belong to the group of lysosomal…”
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Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene by Trofimova, N. S., Olkhovich, N. V., Gorovenko, N. G.

“…Mucopolysaccharidosis type III or Sanfilippo syndrome (MIM # 252900) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the…”
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Pharmacogenetic substantiation of personalized prescription of oral anticoagulants in clinical practice by Bentsionova, K I, Rossokha, Z I, Ievseienkova, O G, Gorovenko, N G

“…Thromboembolic diseases are of great clinical concern because of their high prevalence and consequences, which are often fatal. Despite significant progress in…”
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Specificities of Sanfilippo A syndrome laboratory diagnostics by Trofimova, N. S., Olkhovich, N. V., Gorovenko, N. G.

“…Mucopolysaccharidosis type IIIA (MPS IIIA) occurs due to the deficiency of lysosomal enzyme heparan-N-sulfatase (sulfamidase), which is caused by mutations in…”
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Efficiency of application of different DNA probes in identifying marker chromosomes by Tavokina, L. V., Brovko, A. O., Baronova, E. V., Moskalenko, E. P., Gorovenko, N. G.

“…The presence of marker chromosomes in the human karyotype always requires a special diagnostic approach. Determination of the marker chromosome type and…”
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Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy by Olkhovich, Natalia V, Takamura, Noboru, Pichkur, Natalia A, Gorovenko, Natalia G, Aoyagi, Kiyoshi, Yamashita, Shunichi

“…Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA) or saposin B. The majority of mutations…”
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The frequency of alleles in the GSTT1 and GSTM1 genes involved in phase II of xenobiotic transformation in long-lived people of subcarpathia by Kozovyi, R. V., Podolska, S. V., Gorovenko, N. G.

“…Polymorphism of genes of Phase II of xenobiotic biotransformation was studied in 166 long-lived people and in 169 control subjects who live in the…”
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