Analysis by Minigene Assay of the Splicing Effect of a Novel Variant c.1545T>G in the SLC26A4 Gene Associated with Hearing Loss

Panina, E. A., Danilchenko, V. Y., Zytsar, M. V., Orishchenko, K. E. & Posukh, O. L., 10 Jun 2025, In: Russian Journal of Genetics. 61, 5, p. 602-607 6 p.

Research output: Contribution to journal › Article › peer-review

Charm is a flexible pipeline to simulate chromosomal rearrangements on Hi-C-like data

Nuriddinov, M., Belokopytova, P. & Fishman, V., Jun 2025, In: NAR Genomics and Bioinformatics. 7, 2, p. lqaf081 10 p., lqaf081.

Research output: Contribution to journal › Article › peer-review

От цитогенетики к протеогеномике: новые горизонты в исследовании анеуплодий

Zadesenets, K. S. & Rubtsov, N. B., Jun 2025, In: Vavilovskii Zhurnal Genetiki i Selektsii. 29, 3, p. 335-348 14 p.

Research output: Contribution to journal › Article › peer-review

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants

Gridina, M., Lagunov, T., Belokopytova, P., Torgunakov, N., Nuriddinov, M., Nurislamov, A., Nazarenko, L. P., Kashevarova, A. A., Lopatkina, M. E., Vasilyev, S., Zuev, A., Belyaeva, E. O., Salyukova, O. A., Cheremnykh, A. D., Sukhanova, N. N., Minzhenkova, M. E., Markova, Z. G., Demina, N. A., Stepanchuk, Y., Khabarova, A., & 22 othersYan, A., Valeev, E., Koksharova, G., Grigor’eva, E. V., Kokh, N., Lukjanova, T., Maximova, Y., Musatova, E., Shabanova, E., Kechin, A., Khrapov, E., Boyarskih, U., Ryzhkova, O., Suntsova, M., Matrosova, A., Karoli, M., Manakhov, A., Filipenko, M., Rogaev, E., Shilova, N. V., Lebedev, I. N. & Fishman, V., 7 May 2025, In: Genome Medicine. 17, 1, p. 47 47.

Research output: Contribution to journal › Article › peer-review

Some Peculiarities of MLH1 Foci Distribution in Common Degu (Octodon degus, Rodentia: Octodontidae) Chromosomes: Presence in Pericentromeric Regions and Absence in XY

Bikchurina, T., Grishko, E., Odnoprienko, D. & Borodin, P., 16 Apr 2025, In: Cytogenetic and Genome Research. 165, 3-5, p. 128-139 12 p.

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Generation of iTAF1-36-H8.1 and iTAF1-36-H8.2 Human-Induced Pluripotent Stem Cell Lines with HAR Deletion in the CNTN6 Gene by CRISPR/Cas9 Genome-Editing Technology

Chvileva, A. S., Yunusova, A. M., Pristyazhnyuk, I. E., Smirnov, A. V., Ryzhkova, A. S., Belokopytova, P. S. & Shnaider, T. A., 17 Mar 2025, In: Russian Journal of Developmental Biology. 55, 5, p. 296-306 11 p.

Research output: Contribution to journal › Article › peer-review

Studying concatenation of the Cas9-cleaved transgenes using barcodes

Smirnov, A. V., Korablev, A. N., Serova, I. A., Yunusova, A. M., Muravyova, A. A., Valeev, E. S. & Battulin, N. R., Feb 2025, In: Vavilovskii Zhurnal Genetiki i Selektsii. 29, 1, p. 26-34 9 p., 3.

Research output: Contribution to journal › Article › peer-review

Сравнительный анализ гаплотипов, несущих патогенные варианты C.1545T>G, C.2027T>A и C.919-2A>G гена SLC26A4, у пациентов с потерей слуха из Республики Тыва (Южная Сибирь)

Danilchenko, V. Y., Zytsar, M. V., Panina, E. A., Orishchenko, K. E. & Posukh, O. L., Feb 2025, In: Vavilovskii Zhurnal Genetiki i Selektsii. 29, 1, p. 144-152 9 p., 16.

Research output: Contribution to journal › Article › peer-review

Ultrastructural organization of the liver of rat pups in early postnatal ontogenesis when pregnant and lactating rats are kept on a low-protein diet

Pershina, E. G., Morozova, K. N. & Bgatova, N. P., 2 Jan 2025, In: Ultrastructural Pathology. 49, 1, p. 93-107 15 p., 6.

Research output: Contribution to journal › Article › peer-review

Анализ влияния на сплайсинг вариантов гена SLC26A4, выявленных у пациентов с потерей слуха из Республик Тыва и Алтай (Южная Сибирь)

Данильченко, В. Ю., Панина, Е. А., Зыцарь, М. В., Орищенко, К. Е. & Посух, О. Л., 2025, In: Медицинская генетика. 24, 4, p. 53-55

Research output: Contribution to journal › Article › peer-review

Анализ методом минигенов влияния на сплайсинг нового варианта C.1545T>G в гене SLC26A4, ассоциированного с потерей слуха

Панина, Е. А., Данильченко, В. Ю., Зыцарь, М. В., Орищенко, К. Е. & Посух, О. Л., 2025, In: Генетика. 61, 5, p. 103-109

Research output: Contribution to journal › Article › peer-review

Создание и характеристика унифицированной модельной системы in vitro для сравнительного анализа вариантов гена GJB2, ассоциированных с потерей слуха

Маслова, Е. А., Посух, О. Л. & Орищенко, К. Е., 2025, In: Медицинская генетика. 24, 6, p. 92-94

Research output: Contribution to journal › Article › peer-review

Thraustochytrids: Evolution, Ultrastructure, Biotechnology, and Modeling

Menzorov, A. G., Iukhtanov, D. A., Naumenko, L. G., Bobrovskikh, A. V., Zubairova, U. S., Morozova, K. N. & Doroshkov, A. V., 7 Dec 2024, In: International Journal of Molecular Sciences. 25, 23, 25 p., 13172.

Research output: Contribution to journal › Review article › peer-review

Auxin Triggers AHR Pathway Activation in the Auxin-Inducible Degron System in Mammalian Cells

Yunusova, A., Zadorozhnyi, D. & Battulin, N., Dec 2024, In: Biochemistry (Moscow). 89, 12, p. 2214-2226 13 p., 10.

Research output: Contribution to journal › Article › peer-review

Structural variants in the Epb41l4a locus: TAD disruption and Nrep gene misregulation as hypothetical drivers of neurodevelopmental outcomes

Salnikov, P., Korablev, A., Serova, I., Belokopytova, P., Yan, A., Stepanchuk, Y., Tikhomirov, S. & Fishman, V., Dec 2024, In: Scientific Reports. 14, 1, 8 p., 5288.

Research output: Contribution to journal › Article › peer-review

TAD border deletion at the Kit locus causes tissue-specific ectopic activation of a neighboring gene

Kabirova, E., Ryzhkova, A., Lukyanchikova, V., Khabarova, A., Korablev, A., Shnaider, T., Nuriddinov, M., Belokopytova, P., Smirnov, A., Khotskin, N. V., Kontsevaya, G., Serova, I. & Battulin, N., Dec 2024, In: Nature Communications. 15, 1, 16 p., 4521.

Research output: Contribution to journal › Article › peer-review

The chromosome-scale genome assembly for the West Nile vector Culex quinquefasciatus uncovers patterns of genome evolution in mosquitoes

Ryazansky, S. S., Chen, C., Potters, M., Naumenko, A. N., Lukyanchikova, V., Masri, R. A., Brusentsov, I. I., Karagodin, D. A., Yurchenko, A. A., Dos Anjos, V. L., Haba, Y., Rose, N. H., Hoffman, J., Guo, R., Menna, T., Kelley, M., Ferrill, E., Schultz, K. E., Qi, Y., Sharma, A., & 12 othersDeschamps, S., Llaca, V., Mao, C., Murphy, T. D., Baricheva, E. M., Emrich, S., Fritz, M. L., Benoit, J. B., Sharakhov, I. V., McBride, C. S., Tu, Z. & Sharakhova, M. V., Dec 2024, In: BMC Biology. 22, 1, 27 p., 16.

Research output: Contribution to journal › Article › peer-review

Loop Extrusion Machinery Impairments in Models and Disease

Ryzhkova, A., Maltseva, E., Battulin, N. & Kabirova, E., 17 Nov 2024, In: Cells. 13, 22, 1896.

Research output: Contribution to journal › Review article › peer-review