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Your search keyword '"Ivashchenko, Tatyana E."' showing total 18 results
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18 results on '"Ivashchenko, Tatyana E."'

1. Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis

Author

Zagaynova, Valeria A., primary, Nasykhova, Yulia A., additional, Tonyan, Ziravard N., additional, Danilova, Maria M., additional, Dvoynova, Natalya M., additional, Lazareva, Tatyana E., additional, Ivashchenko, Tatyana E., additional, Shabanova, Elena S., additional, Krikheli, Inna O., additional, Lesik, Elena A., additional, Bespalova, Olesya N., additional, Kogan, Igor Yu., additional, and Glotov, Andrey S., additional

Published
2024
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2. Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for MED12 exon 2 mutations

Author

Dzhemlikhanova, Lyailya Kh, Efimova, Olga A, Osinovskaya, Natalia S, Parfenyev, Sergey E, Niauri, Dariko A, Sultanov, Iskender Yu, Malysheva, Olga V, Pendina, Anna A, Shved, Natalia Yu, Ivashchenko, Tatyana E, Yarmolinskaya, Maria I, Kakhiani, Maka I, Gorovaya, Ekaterina A, Tkachenko, Antonina N, and Baranov, Vladislav S

Published
2017
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5. Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities

Author

Pendina, Anna A., primary, Shilenkova, Yulia V., additional, Talantova, Olga E., additional, Efimova, Olga A., additional, Chiryaeva, Olga G., additional, Malysheva, Olga V., additional, Dudkina, Vera S., additional, Petrova, Lubov' I., additional, Serebryakova, Elena A., additional, Shabanova, Elena S., additional, Mekina, Irina D., additional, Komarova, Evgeniia M., additional, Koltsova, Alla S., additional, Tikhonov, Andrei V., additional, Tral, Tatyana G., additional, Tolibova, Gulrukhsor Kh., additional, Osinovskaya, Natalia S., additional, Krapivin, Mikhail I., additional, Petrovskaia-Kaminskaia, Anastasiia V., additional, Korchak, Taisia S., additional, Ivashchenko, Tatyana E., additional, Glotov, Oleg S., additional, Romanova, Olga V., additional, Shikov, Anton E., additional, Urazov, Stanislav P., additional, Tsay, Viktoriya V., additional, Eismont, Yurii A., additional, Scherbak, Sergei G., additional, Sagurova, Yanina M., additional, Vashukova, Elena S., additional, Kozyulina, Polina Y., additional, Dvoynova, Natalya M., additional, Glotov, Andrey S., additional, Baranov, Vladislav S., additional, Gzgzyan, Alexander M., additional, and Kogan, Igor Yu., additional

Published
2019
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6. Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes.

Author

Glotov, Oleg S., Serebryakova, Elena A., Turkunova, Mariia E., Efimova, Olga A., Glotov, Andrey S., Barbitoff, Yury A., Nasykhova, Yulia A., Predeus, Alexander V., Polev, Dmitrii E., Fedyakov, Mikhail A., Polyakova, Irina V., Ivashchenko, Tatyana E., Shved, Natalia Y., Shabanova, Elena S., Tiselko, Alena V., Romanova, Olga V., Sarana, Andrey M., Pendina, Anna A., Scherbak, Sergey G., and Musina, Ekaterina V.

Subjects
TYPE 2 diabetes, DIABETES, DIABETES in children, EXOMES, GENES, FREQUENCY spectra, MATURITY onset diabetes of the young
Abstract

The present study reports on the frequency and the spectrum of genetic variants causative of monogenic diabetes in Russian children with non-type 1 diabetes mellitus. The present study included 60 unrelated Russian children with non-type 1 diabetes mellitus diagnosed before the age of 18 years. Genetic variants were screened using whole-exome sequencing (WES) in a panel of 35 genes causative of maturity onset diabetes of the young (MODY) and transient or permanent neonatal diabetes. Verification of the WES results was performed using PCR-direct sequencing. A total of 38 genetic variants were identified in 33 out of 60 patients (55%). The majority of patients (27/33, 81.8%) had variants in MODY-related genes: GCK (n=19), HNF1A (n=2), PAX4 (n=1), ABCC8 (n=1), KCNJ11 (n=1), GCK+HNF1A (n=1), GCK+BLK (n=1) and GCK+BLK+WFS1 (n=1). A total of 6 patients (6/33, 18.2%) had variants in MODY-unrelated genes: GATA6 (n=1), WFS1 (n=3), EIF2AK3 (n=1) and SLC19A2 (n=1). A total of 15 out of 38 variants were novel, including GCK, HNF1A, BLK, WFS1, EIF2AK3 and SLC19A2. To summarize, the present study demonstrates a high frequency and a wide spectrum of genetic variants causative of monogenic diabetes in Russian children with non-type 1 diabetes mellitus. The spectrum includes previously known and novel variants in MODY-related and unrelated genes, with multiple variants in a number of patients. The prevalence of GCK variants indicates that diagnostics of monogenic diabetes in Russian children may begin with testing for MODY2. However, the remaining variants are present at low frequencies in 9 different genes, altogether amounting to ~50% of the cases and highlighting the efficiency of using WES in non-GCK-MODY cases. [ABSTRACT FROM AUTHOR]

Published
2019
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7. Catechol-O-methyltransferase polymorphism (Val158Met) in women with uterine leiomyoma and adenomyosis

Author

NIAURI DARIKO A., DZHEMLIKHANOVA LYAILYA KH., GZGZYAN ALEXANDR M., OSINOVSKAYA NATALIA S., GOROVAYA EKATERINA A., IVASHCHENKO TATYANA E., SULTANOV ISKENDER YU., and TKACHENKO ANTONINA N.

Subjects
FIBROIDS,LEIOMYOMA,ADENOMYOSIS,HYPERPLASTIC PROCESS OF ENDOMETRIUM,CATECHOL-O-METHYLTRANSFERASE,МИОМА МАТКИ,ЛЕЙОМИОМА,АДЕНОМИОЗ,ГИПЕРПЛАСТИЧЕСКИЕ ПРОЦЕССЫ ЭНДОМЕТРИЯ,КАТЕХОЛ-О-МЕТИЛ ТРАНСФЕРАЗА, female genital diseases and pregnancy complications
Abstract

The aim of this research was to study the frequency of polymorphic variants Val158Met (rs4680) of catechol-O-methyltransferase (COMT) gene in patients with uterine leiomyoma. A polymerase chain reaction was performed to figure out the frequency of polymorphic alleles of COMT gene in 54 patients with uterine leiomyoma and 103 women from the general population. It is shown that the presence of the genotype G/G of the COMT gene is associated with 2.5 times-increased risk of uterine leiomyoma (RR 2,44, Cl95: 1,168-5,103), whereas the genotype A/A is not associated with the development of leiomyoma. At the same time, a comparative analysis of the genotypes frequencies of the COMT gene polymorphism between groups with different combinations of hyperplastic processes of reproductive system (uterine leiomyoma, adenomyosis, hyperplastic processes of endometrium), showed no statistically significant differences. Refs 26. Tables 3.

Published
2016

9. Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative forMED12exon 2 mutations

Author

Dzhemlikhanova, Lyailya Kh, primary, Efimova, Olga A, additional, Osinovskaya, Natalia S, additional, Parfenyev, Sergey E, additional, Niauri, Dariko A, additional, Sultanov, Iskender Yu, additional, Malysheva, Olga V, additional, Pendina, Anna A, additional, Shved, Natalia Yu, additional, Ivashchenko, Tatyana E, additional, Yarmolinskaya, Maria I, additional, Kakhiani, Maka I, additional, Gorovaya, Ekaterina A, additional, Tkachenko, Antonina N, additional, and Baranov, Vladislav S, additional

Published
2016
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10. A study of genetic markers of human height

Author

Glotov, Andrey S, primary, Vashukova, Elena S, additional, Glotov, Oleg S, additional, Kurilov, Roman V, additional, Tarkovskaia, Irina V, additional, Ditkina, Ekaterina Y, additional, Pugacheva, Irina V, additional, Belonog, Olga L, additional, Makhrova, Irina A, additional, Pakin, Vladimir S, additional, Aseev, Mikhail V, additional, and Ivashchenko, Tatyana E, additional

Published
2012
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11. ANALYSIS OF ASSOCIATION OF LIPID METABOLISM GENES POLYMORPHISM WITH BMI, WAIST CIRCUMFERENCE AND BLOOD LIPIDOGRAM PARAMETERS IN WOMEN

Author

Tarkovskaia, Irina V, primary, Glotov, Oleg S, additional, Ditkina, Ekaterina Y, additional, Vashukova, Elena S, additional, Glotov, Andrey S, additional, Kurilov, Roman V, additional, Pugacheva, Irina V, additional, Belonog, Olga L, additional, Makhrova, Irina A, additional, Aseev, Mikhail V, additional, Ivashchenko, Tatyana E, additional, and Baranov, Vladislav S, additional

Published
2012
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12. Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for MED12exon 2 mutations

Author

Dzhemlikhanova, Lyailya Kh, Efimova, Olga A, Osinovskaya, Natalia S, Parfenyev, Sergey E, Niauri, Dariko A, Sultanov, Iskender Yu, Malysheva, Olga V, Pendina, Anna A, Shved, Natalia Yu, Ivashchenko, Tatyana E, Yarmolinskaya, Maria I, Kakhiani, Maka I, Gorovaya, Ekaterina A, Tkachenko, Antonina N, and Baranov, Vladislav S

Abstract

AimsTo study the possible association of catechol-O-methyltransferase (COMT)Val158Met polymorphism with multiple and solitary uterine leiomyomas (ULs) and to check whether the COMTVal/Val genotype is associated with MED12exon 2 mutations in fibroids.MethodsThe COMTVal158Met allele and genotype frequencies were compared between age-matched women with ULs (n=104) and controls (n=59). Patients with UL were subcategorised by diagnosis of solitary (n=59) or multiple (n=45) fibroids and by the presence of somatic MED12exon 2 mutations in at least one fibroid (n=32) or in neither fibroid (n=26). The association of COMTVal/Val genotype with the presence of any ULs, solitary/multiple ULs and ULs positive/negative for MED12exon 2 mutations was evaluated by χ2tests using a dominant genotype model (G/G vs G/A+A/A) and expressed as ORs and 95% CIs.ResultsThe COMTVal/Val genotype frequency did not differ between the patients with UL and the controls (28.8% vs 18.6%, p=0.149, OR 1.77; CI 0.81 to 3.86). However, it was significantly higher in the patients who had multiple UL compared with the solitary UL (40% vs 20.3%, p=0.028, OR 2.61; CI 1.09 to 6.24) and to the controls (40% vs 18.6%, p=0.016, OR 2.91; CI 1.20 to 7.06). No association of the COMTVal/Val genotype with UL-specific MED12exon 2 mutations was found (p=0.662, OR 0.77; CI 0.23 to 2.53).ConclusionsWomen with COMTVal/Val genotype are at high risk of developing multiple uterine fibroids either positive or negative for MED12exon 2 mutations. These data are important to design new strategies for UL prophylaxis and treatment.

Published
2017
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13. Frequency and Spectrum of MED12Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients

Author

Osinovskaya, Natalia S., Malysheva, Olga V., Shved, Natalia Yu., Ivashchenko, Tatyana E., Sultanov, Iskender Yu., Efimova, Olga A., Yarmolinskaya, Maria I., Bezhenar, Vitaly F., and Baranov, Vladislav S.

Abstract

Uterine leiomyomas (ULs) are common benign tumors affecting women of different ethnicities. A large proportion of UL has mutations in MED12. Multiple and solitary ULs usually manifest with different severities, suggesting that their origin and growth pattern may be driven by different molecular mechanisms. Here, we compared the frequency and the spectrum of MED12exon 2 mutations between multiple (n=82) and solitary (n=40) ULs from Russian patients. Overall, we detected MED12exon 2 mutations in 51.6% (63/122) of ULs. The frequency of MED12exon 2 mutations was almost two-fold higher in samples from the multiple UL patients than in those from the solitary UL patients – 61% (50/82) versus 32.5% (13/40). The increased MED12exon 2 mutation frequency in the multiple ULs was not accompanied by significant alterations in the spectrum of mutation categories, which included missense mutations, deletions, splicing defects, and multiple (double/triple) mutations. Each mutation category had a unique mutation set, comprising both frequent and rarely encountered mutations, which did and did not overlap between the studied groups, respectively. We conclude that in contrast to the solitary ULs, the multiple ULs predominantly originate through MED12-associated mechanisms. The nature of these mechanisms seems to be similar in solitary and multiple ULs, as they contain similar mutations. In multiple UL patients, they are likely to be nonsporadic, indicating the existence of specific factors predisposing to multiple UL development. These data suggest that to clearly understand UL pathogenesis, solitary and multiple tumors should probably be analyzed as separate sets.

Published
2016
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14. Association study of APOE, LPL and NOS3 polymorphisms with the risk of common cardio pathology in children and pregnant women

Author

Glotov, Andrey S, primary, Vashukova, Elena S, additional, Kanaeva, Maria D, additional, Dvoeglazova, Maria O, additional, Danilova, Maria M, additional, Pakin, Vladimir S, additional, Marochkina, Ekaterina Yu, additional, Bicmullina, Dina R, additional, Glebova, Maria A, additional, Makhrova, Irina A, additional, Obraztsova, Galina I, additional, Glotov, Oleg S, additional, Zainulina, Marina S, additional, Ivashchenko, Tatyana E, additional, and Baranov, Vladislav S, additional

Published
2011
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