Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

by Polina Gundorova, Anna A Stepanova, Irina A Kuznetsova, Sergey I Kutsev, Aleksander V Polyakov
Published 2019-01-01

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome

by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Natella V. Sukhanova, Sergey I. Kutsev, Rena A. Zinchenko
Published 2020-07-01

Current Approaches to the Treatment of Hunter Syndrome

by Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev
Published 2018-10-01

Genetic Variant c.245A>G (p.Asn82Ser) in <i>GIPC3</i> Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

by Nika V. Petrova, Andrey V. Marakhonov, Natalia V. Balinova, Anna V. Abrukova, Fedor A. Konovalov, Sergey I. Kutsev, Rena A. Zinchenko
Published 2021-05-01

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

by Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev, Rena A. Zinchenko
Published 2018-02-01

Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

by Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Published 2020-03-01

Copy number variation analysis in cytochromes and glutathione S-transferases may predict efficacy of tyrosine kinase inhibitors in chronic myeloid leukemia.

by Alexander V Lavrov, Oksana A Ustaeva, Elmira P Adilgereeva, Svetlana A Smirnikhina, Ekaterina Y Chelysheva, Oleg A Shukhov, Yuriy V Shatokhin, Sergey V Mordanov, Anna G Turkina, Sergey I Kutsev
Published 2017-01-01

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

by Rena A. Zinchenko, Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev
Published 2021-08-01

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

by Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko
Published 2020-10-01

Effects of Functionalized Fullerenes on ROS Homeostasis Determine Their Cytoprotective or Cytotoxic Properties

by Svetlana V. Kostyuk, Elena V. Proskurnina, Ekaterina A. Savinova, Elizaveta S. Ershova, Olga A. Kraevaya, Larisa V. Kameneva, Pavel E. Umryukhin, Olga A. Dolgikh, Sergey I. Kutsev, Pavel A. Troshin, Natalia N. Veiko
Published 2020-07-01

Copy Number Variation of Human Satellite III (1q12) With Aging

by Elizaveta S. Ershova, Elizaveta S. Ershova, Elena M. Malinovskaya, Marina S. Konkova, Roman V. Veiko, Pavel E. Umriukhin, Pavel E. Umriukhin, Andrey V. Martynov, Sergey I. Kutsev, Natalia N. Veiko, Svetlana V. Kostyuk, Svetlana V. Kostyuk
Published 2019-08-01

Exome, transcriptome and miRNA analysis don’t reveal any molecular markers of TKI efficacy in primary CML patients

by Alexander V. Lavrov, Ekaterina Yu. Chelysheva, Elmira P. Adilgereeva, Oleg A. Shukhov, Svetlana A. Smirnikhina, Konstantin S. Kochergin-Nikitsky, Valentina D. Yakushina, Grigory A. Tsaur, Sergey V. Mordanov, Anna G. Turkina, Sergey I. Kutsev
Published 2019-03-01

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

by Nika V. Petrova, Nataliya Y. Kashirskaya, Stanislav A. Krasovskiy, Elena L. Amelina, Elena I. Kondratyeva, Andrey V. Marakhonov, Tatyana A. Vasilyeva, Anna Y. Voronkova, Victoria D. Sherman, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Published 2020-09-01

Analysis of <i>CFTR</i> Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

by Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Victoria D. Sherman, Varvara A. Galkina, Eugeny K. Ginter, Sergey I. Kutsev, Andrey V. Marakhonov, Rena A. Zinchenko
Published 2020-05-01

Symmetric dimeric bisbenzimidazoles DBP(n) reduce methylation of RARB and PTEN while significantly increase methylation of rRNA genes in MCF-7 cancer cells.

by Svetlana V Kostyuk, Margarita A Kvasha, Daria A Khrabrova, Olga V Kirsanova, Elizaveta S Ershova, Elena M Malinovskaya, Natalia N Veiko, Alexander A Ivanov, Vasiliy S Koval, Alexei L Zhuze, Vadim H Tashlitsky, Pavel E Umriukhin, Sergey I Kutsev, Elizaveta S Gromova
Published 2018-01-01

Abnormal promoter DNA hypermethylation of the integrin, nidogen, and dystroglycan genes in breast cancer

by Vladimir V. Strelnikov, Ekaterina B. Kuznetsova, Alexander S. Tanas, Viktoria V. Rudenko, Alexey I. Kalinkin, Elena V. Poddubskaya, Tatiana V. Kekeeva, Galina G. Chesnokova, Ivan D. Trotsenko, Sergey S. Larin, Sergey I. Kutsev, Dmitry V. Zaletaev, Marina V. Nemtsova, Olga A. Simonova
Published 2021-01-01

The Phosphonate Derivative of C₆₀ Fullerene Induces Differentiation towards the Myogenic Lineage in Human Adipose-Derived Mesenchymal Stem Cells

by Svetlana V. Kostyuk, Elena V. Proskurnina, Elizaveta S. Ershova, Larisa V. Kameneva, Elena M. Malinovskaya, Ekaterina A. Savinova, Vasilina A. Sergeeva, Pavel E. Umriukhin, Olga A. Dolgikh, Ekaterina A. Khakina, Olga A. Kraevaya, Pavel A. Troshin, Sergey I. Kutsev, Natalia N. Veiko
Published 2021-08-01

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko
Published 2020-09-01

Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors

by Elena I. Kondratyeva, Irina N. Zakharova, Natalya A. Ilenkova, Leonid Ya. Klimov, Nika V. Petrova, Aisa E. Zodbinova, Elena K. Zhekaite, Vladimir V. Chikunov, Svetlana V. Dolbnya, Anna Yu. Voronkova, Victoria D. Sherman, Elena V. Loshkova, Yuliya L. Melyanovskaya, Roman M. Budzinskiy, Victoria A. Kuryaninova, Sergey I. Kutsev
Published 2020-11-01

Oxidized cell-free DNA as a stress-signaling factor activating the chronic inflammatory process in patients with autism spectrum disorders

by Galina V. Shmarina, Elizaveta S. Ershova, Natalia V. Simashkova, Svetlana G. Nikitina, Julia M. Chudakova, Natalia N. Veiko, Lev N. Porokhovnik, Anna Y. Basova, Antonina F. Shaposhnikova, Daria A. Pukhalskaya, Vladimir M. Pisarev, Natalia J. Korovina, Natalia L. Gorbachevskaya, Olga A. Dolgikh, Marina Bogush, Sergey I. Kutsev, Svetlana V. Kostyuk
Published 2020-07-01