Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome
Vasilyeva, Tatyana A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (15.06.2022)
Published in International journal of molecular sciences (15.06.2022)
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Analysis of genotype–phenotype correlations in PAX6-associated aniridia
Vasilyeva, Tatyana A., Marakhonov, Andrey V., Voskresenskaya, Anna A., Kadyshev, Vitaly V., Käsmann-Kellner, Barbara, Sukhanova, Natella V., Katargina, Lyudmila A., Kutsev, Sergey I., Zinchenko, Rena A.
Published in Journal of medical genetics (01.04.2021)
Published in Journal of medical genetics (01.04.2021)
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NADPH-oxidase 4 gene over-expression in peripheral blood lymphocytes of the schizophrenia patients
Ershova, Elizaveta S, Shmarina, Galina V, Martynov, Andrey V, Zakharova, Natalia V, Veiko, Roman V, Umriukhin, Pavel E, Kostyuk, George P, Kutsev, Sergey I, Veiko, Natalia N, Kostyuk, Svetlana V
Published in PloS one (13.06.2022)
Published in PloS one (13.06.2022)
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The Genetic Landscape and Epidemiology of Phenylketonuria
Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A.F., Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E., Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I., Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V., Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad
Published in American journal of human genetics (06.08.2020)
Published in American journal of human genetics (06.08.2020)
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Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing
Nemtsova, Marina V, Kalinkin, Alexey I, Kuznetsova, Ekaterina B, Bure, Irina V, Alekseeva, Ekaterina A, Bykov, Igor I, Khorobrykh, Tatiana V, Mikhaylenko, Dmitry S, Tanas, Alexander S, Kutsev, Sergey I, Zaletaev, Dmitry V, Strelnikov, Vladimir V
Published in Scientific reports (16.01.2020)
Published in Scientific reports (16.01.2020)
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BH4-deficient hyperphenylalaninemia in Russia
Gundorova, Polina, Kuznetcova, Irina A, Baydakova, Galina V, Stepanova, Anna A, Itkis, Yulia S, Kakaulina, Victoria S, Alferova, Irina P, Lyazina, Lidya V, Andreeva, Lilya P, Kanivets, Ilya, Zakharova, Ekaterina Y, Kutsev, Sergey I, Polyakov, Aleksander V
Published in PloS one (06.04.2021)
Published in PloS one (06.04.2021)
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Abnormal promoter DNA hypermethylation of the integrin, nidogen, and dystroglycan genes in breast cancer
Strelnikov, Vladimir V, Kuznetsova, Ekaterina B, Tanas, Alexander S, Rudenko, Viktoria V, Kalinkin, Alexey I, Poddubskaya, Elena V, Kekeeva, Tatiana V, Chesnokova, Galina G, Trotsenko, Ivan D, Larin, Sergey S, Kutsev, Sergey I, Zaletaev, Dmitry V, Nemtsova, Marina V, Simonova, Olga A
Published in Scientific reports (26.01.2021)
Published in Scientific reports (26.01.2021)
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LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome
Marakhonov, Andrey V, Vasilyeva, Tatyana A, Voskresenskaya, Anna A, Sukhanova, Natella V, Kadyshev, Vitaly V, Kutsev, Sergey I, Zinchenko, Rena A
Published in Human molecular genetics (01.10.2019)
Published in Human molecular genetics (01.10.2019)
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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene
Ionova, Sofya A., Murtazina, Aysylu F., Tebieva, Inna S., Getoeva, Zalina K., Dadali, Elena L., Chausova, Polina A., Shchagina, Olga A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (12.10.2022)
Published in International journal of molecular sciences (12.10.2022)
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DNA methylation markers panel can improve prediction of response to neoadjuvant chemotherapy in luminal B breast cancer
Sigin, Vladimir O, Kalinkin, Alexey I, Kuznetsova, Ekaterina B, Simonova, Olga A, Chesnokova, Galina G, Litviakov, Nikolai V, Slonimskaya, Elena M, Tsyganov, Matvey M, Ibragimova, Marina K, Volodin, Ilya V, Vinogradov, Ilya I, Vinogradov, Maksim I, Vinogradov, Igor Y, Kutsev, Sergey I, Strelnikov, Vladimir V, Zaletaev, Dmitry V, Tanas, Alexander S
Published in Scientific reports (08.06.2020)
Published in Scientific reports (08.06.2020)
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Oxidized cell-free DNA as a stress-signaling factor activating the chronic inflammatory process in patients with autism spectrum disorders
Shmarina, Galina V, Ershova, Elizaveta S, Simashkova, Natalia V, Nikitina, Svetlana G, Chudakova, Julia M, Veiko, Natalia N, Porokhovnik, Lev N, Basova, Anna Y, Shaposhnikova, Antonina F, Pukhalskaya, Daria A, Pisarev, Vladimir M, Korovina, Natalia J, Gorbachevskaya, Natalia L, Dolgikh, Olga A, Bogush, Marina, Kutsev, Sergey I, Kostyuk, Svetlana V
Published in Journal of neuroinflammation (16.07.2020)
Published in Journal of neuroinflammation (16.07.2020)
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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania
Ionova, Sofya A, Murtazina, Aysylu F, Marakhonov, Andrey A, Shchagina, Olga A, Ryadninskaya, Nina V, Tebieva, Inna S, Kadyshev, Vitaly V, Borovikov, Artem O, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A
Published in International journal of molecular sciences (01.09.2024)
Published in International journal of molecular sciences (01.09.2024)
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Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population
Kadyshev, Vitaly V., Alekseeva, Ekaterina A., Strelnikov, Vladimir V., Stepanova, Anna A., Polyakov, Alexander V., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (12.11.2023)
Published in International journal of molecular sciences (12.11.2023)
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Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94) and Chromosome 21 Trisomy in the Same Patient
Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu, Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene
Tebieva, Inna S, Mishakova, Polina V, Gabisova, Yulia V, Khokhova, Alana V, Kaloeva, Tamara G, Marakhonov, Andrey V, Shchagina, Olga A, Polyakov, Alexander V, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A
Published in International journal of molecular sciences (01.05.2024)
Published in International journal of molecular sciences (01.05.2024)
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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
Zinchenko, Rena A., Ginter, Eugeny K., Marakhonov, Andrey V., Petrova, Nika V., Kadyshev, Vitaly V., Vasilyeva, Tatyana P., Alexandrova, Oksana U., Polyakov, Alexander V., Kutsev, Sergey I.
Published in Frontiers in genetics (30.08.2021)
Published in Frontiers in genetics (30.08.2021)
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Mild cognitive impairment is associated with low copy number of ribosomal genes in the genomes of elderly people
Veiko, Natalia N., Ershova, Elizaveta S., Veiko, Roman V., Umriukhin, Pavel E., Kurmyshev, Marat V., Kostyuk, Georg P., Kutsev, Sergey I., Kostyuk, Svetlana V.
Published in Frontiers in genetics (19.09.2022)
Published in Frontiers in genetics (19.09.2022)
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Effect of Low-Dose Ionizing Radiation on the Expression of Mitochondria-Related Genes in Human Mesenchymal Stem Cells
Kostyuk, Svetlana V, Proskurnina, Elena V, Konkova, Marina S, Abramova, Margarita S, Kalianov, Andrey A, Ershova, Elizaveta S, Izhevskaya, Vera L, Kutsev, Sergey I, Veiko, Natalia N
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Published in International journal of molecular sciences (27.12.2021)
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Epigenomic Profiling Advises Therapeutic Potential of Leukotriene Receptor Inhibitors for a Subset of Triple-Negative Breast Tumors
Kalinkin, Alexey I, Sigin, Vladimir O, Kuznetsova, Ekaterina B, Ignatova, Ekaterina O, Vinogradov, Ilya I, Vinogradov, Maxim I, Vinogradov, Igor Y, Zaletaev, Dmitry V, Nemtsova, Marina V, Kutsev, Sergey I, Tanas, Alexander S, Strelnikov, Vladimir V
Published in International journal of molecular sciences (11.12.2023)
Published in International journal of molecular sciences (11.12.2023)
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