СОВРЕМЕННЫЕ ПОДХОДЫ К ПЕРСОНАЛИЗИРОВАННОЙ ТЕРАПИИ ГРАНУЛЕЗОКЛЕТОЧНЫХ ОПУХОЛЕЙ ЯИЧНИКОВ

Θεματικοί όροι: гранулезоклеточная опухоль, персонализированная медицина, FOXL2, таргетная терапия, иммунотерапия, жидкостная биопсия, онкология яичников, NCCN, RUSSCO, геномное редактирование

СОВРЕМЕННЫЕ ПОДХОДЫ К ПЕРСОНАЛИЗИРОВАННОЙ ТЕРАПИИ ГРАНУЛЕЗОКЛЕТОЧНЫХ ОПУХОЛЕЙ ЯИЧНИКОВ

Θεματικοί όροι: гранулезоклеточная опухоль, персонализированная медицина, FOXL2, таргетная терапия, иммунотерапия, жидкостная биопсия, онкология яичников, NCCN, RUSSCO, геномное редактирование

Cystic Fibrosis: New Trends in Therapy Methods ; Муковисцидоз: новые тенденции в методах терапии

Συγγραφείς: P. A. Suchkova, S. A. Panova, O. Ya. Lisenko, K. P. Raevskij, П. А. Сучкова, С. А. Панова, О. Я. Лисенко, К. П. Раевский

Συνεισφορές: The authors declare no funding for this study, Авторы заявляют об отсутствии финансирования при проведении исследования

Πηγή: The Russian Archives of Internal Medicine; Том 15, № 4 (2025); 275-283 ; Архивъ внутренней медицины; Том 15, № 4 (2025); 275-283 ; 2411-6564 ; 2226-6704

Θεματικοί όροι: патогенетическая терапия, review, targeted therapy, genetic therapy, gene editing, genetic vector, обзор, таргетная терапия, противовоспалительная терапия, генная терапия, геномное редактирование, вирусный вектор

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://www.medarhive.ru/jour/article/view/2045
https://doi.org/10.20514/2226-6704-2025-15-4-275-283

Isogenic induced pluripotent stem cell line ICGi036-A-1 from a patient with familial hypercholesterolaemia, derived by correcting a pathogenic variant of the gene LDLR c.530C>T ; Изогенная линия индуцированных плюрипотентных стволовых клеток ICGi036-A-1 от пациента с семейной гиперхолестеринемией, созданная путем коррекции патогенного варианта гена LDLR c.530C>T

Συγγραφείς: A. S. Zueva, A. I. Shevchenko, S. P. Medvedev, E. A. Elisaphenko, A. A. Sleptcov, M. S. Nazarenko, N. A. Tmoyan, S. M. Zakian, I. S. Zakharova, А. С. Зуева, А. И. Шевченко, С. П. Медведев, Е. А. Елисафенко, А. А. Слепцов, М. С. Назаренко, Н. А. Тмоян, С. М. Закиян, И. С. Захарова

Συνεισφορές: The work was supported by the Russian Science Foundation grant No. 24-15-00346, https://rscf.ru/project/ 24-15-00346/.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 29, № 2 (2025); 189-199 ; Вавиловский журнал генетики и селекции; Том 29, № 2 (2025); 189-199 ; 2500-3259 ; 10.18699/vjgb-25-20

Θεματικοί όροι: изогенные линии клеток, LDLR, induced pluripotent stem cells, genome editing, isogenic cell lines, индуцированные плюрипотентные стволовые клетки, геномное редактирование

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Pisma v Vavilovskii Zhurnal Genetiki i Selektsii = Letters to Vavilov Journal of Genetics and Breeding. 2024b;10(1):5-14. doi 10.18699/letvjgb-2024-10-2 (in Russian); https://vavilov.elpub.ru/jour/article/view/4537

Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/4537
https://doi.org/10.18699/vjgb-25-22

Cystic fibrosis therapy: from symptoms to the cause of the disease ; Терапия муковисцидоза: от симптомов к причине заболевания

Συγγραφείς: T N. Kireeva, D. I. Zhigalina, N. A. Skryabin, Т. Н. Киреева, Д. И. Жигалина, Н. А. Скрябин

Πηγή: Vavilov Journal of Genetics and Breeding; Том 29, № 2 (2025); 279-289 ; Вавиловский журнал генетики и селекции; Том 29, № 2 (2025); 279-289 ; 2500-3259 ; 10.18699/vjgb-25-20

Θεματικοί όροι: CRISPR/Cas9, CFTR, CFTR mutations, CFTR modulators, gene therapy, genome editing, ген CFTR, мутации CFTR, модуляторы CFTR, генная терапия, геномное редактирование

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/4547
https://doi.org/10.18699/vjgb-25-31

УСПЕХИ ГЕНОМНОГО РЕДАКТИРОВАНИЯ КАРТОФЕЛЯ

Θεματικοί όροι: TALEN, геномное редактирование, genome editing, potato, картофель, CRISPR/Cas9

Inheritance of Genetic Constructs for RNASILENSING and Genome Editing in Sorghum Mutants with Improved Kafirin Digestibility and Their Effects on Breeding Valuable Traits

Πηγή: Биотехнология в растениеводстве, животноводстве и сельскохозяйственной микробиологии. :63-65

Θεματικοί όροι: 2. Zero hunger, НАСЛЕДОВАНИЕ ГЕНЕТИЧЕСКИХ КОНСТРУКЦИЙ, GENOM EDITING, РНКСАЙЛЕНСИНГ, ГЕНОМНОЕ РЕДАКТИРОВАНИЕ, УЛУЧШЕННАЯ ПЕРЕВАРИВАЕМОСТЬ КАФИРИНОВ, ЭФФЕКТЫ НА СЕЛЕКЦИОННО-ЦЕННЫЕ ПРИЗНАКИ, RNACILENSING, IMPROVED KAFIIRIN DIGESTABILITY, EFFECTS ON BREEDING-VALUABLE TRAITS, SORGO MUTANT, МУТАНТ СОРГО, HERITAGE OF GENETIC CONSTRUCTS

Review of current research on the development of gene therapy for cystic fibrosis using genome editing techniques ; Обзор текущих исследований по разработке генной терапии на основе геномного редактирования для лечения муковисцидоза

Συγγραφείς: S. A. Smirnikhina, С. А. Смирнихина

Συνεισφορές: The study has been funded by the state assignment of the Ministry of Science and Higher Education of the Russian Federation., Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ МГНЦ

Πηγή: Medical Genetics; Том 23, № 9 (2024); 3-17 ; Медицинская генетика; Том 23, № 9 (2024); 3-17 ; 2073-7998

Θεματικοί όροι: F508del, genome editing, CRISPR-Cas, cell lines, геномное редактирование, клеточные линии

Περιγραφή αρχείου: application/pdf

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Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA. PLoS One 2017; 12(9): e0184009.; Maule G., Casini A., Montagna C., et al. Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing. Nat Commun. 2019 Aug 7;10(1):3556. doi:10.1038/s41467-019-11454-9.; Sanz D.J., Harrison P.T. Minigene assay to Evaluate CRISPR/Cas9- based excision of Intronic mutations that Cause Aberrant Splicing in Human Cells. Bio Protoc. 2019 Jun 5;9(11):e3251. doi:10.21769/BioProtoc.3251.; Melfi R., Cancemi P., Chiavetta R., et al. Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons. Int J Mol Sci. 2020 Jul 6;21(13):4781. doi:10.3390/ijms21134781.; Erwood S., Laselva O., Bily T.M.I., et al. Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing. Mol Ther Methods Clin Dev. 2020 May 12;17:1118-1128. doi:10.1016/j.omtm.2020.05.002.; Santos L., Mention K., Cavusoglu-Doran K., et al. Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation. J Cyst Fibros. 2021 Jun 5:S1569- 1993(21)00167-3. doi:10.1016/j.jcf.2021.05.014.; Chiavetta R.F., Titoli S., Barra V., et al. Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells. Int J Mol Sci. 2023 Jun 30;24(13):10940. doi:10.3390/ijms241310940.; Li C., Liu Z., Anderson J., et al. Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells. PLoS One. 2023 Nov 29;18(11):e0295009. doi:10.1371/journal.pone.0295009.; Amistadi S., Maule G., Ciciani M., et al. Functional restoration of a CFTR splicing mutation through RNA delivery of CRISPR adenine base editor. Mol Ther. 2023 Jun 7;31(6):1647-1660. doi:10.1016/j.ymthe.2023.03.004.; Walker A.J., Graham C., Greenwood M., et al. Molecular and functional correction of a deep intronic splicing mutation in CFTR by CRISPR-Cas9 gene editing. Mol Ther Methods Clin Dev. 2023 Oct 18;31:101140. doi:10.1016/j.omtm.2023.101140.; Joynt A.T., Kavanagh E.W., Newby G.A., et al. Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells. Mol Ther Nucleic Acids. 2023 Jun 29;33:335-350. doi:10.1016/j.omtn.2023.06.020.; Кондратьева Е.В., Демченко А.Г., Лавров А.В., Смирнихина С.А. Редактирование мутации c.3846G>A (p.Trp1282*) в гене CFTR в ИПСК с использованием аденинового редактора. Медицинская генетика. 2023; 22(11): 20-26. Doi:10.25557/2073-7998.2023.11.20-26; Kulhankova K., Traore S., Cheng X., et al. Shuttle peptide delivers base editor RNPs to rhesus monkey airway epithelial cells in vivo. Nat Commun. 2023 Dec 5;14(1):8051. doi:10.1038/s41467-023-43904-w.; Cystic Fibrosis Foundation Patient Registry 2021 Annual Data Report, Bethesda, Maryland, Cystic Fibrosis Foundation. https://www.cff.org/medical-professionals/patient-registry. Дата доступа: 22.01.2024; UK Cystic Fibrosis Registry 2022 Annual Data Report, 2023, https://www.cysticfibrosis.org.uk/sites/default/files/2023-12/CFT_2022_Annual_Data_Report_Dec2023.pdf. Дата доступа: 22.01.2024; Petrova N., Balinova N., Marakhonov A., Vasilyeva T., Kashirskaya N., Galkina V., Ginter E., Kutsev S., Zinchenko R. Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation. Front Genet. 2021 Jun 16;12:678374. doi:10.3389/fgene.2021.678374; Регистр пациентов с муковисцидозом в Российской Федерации. 2021 год./ Под редакцией С.А. Красовского, М.А. Стариновой, А.Ю. Воронковой, Е.Л. Амелиной, Н.Ю. Каширской, Е.И. Кондратьевой, Л.П. Назаренко – СПб.: Благотворительный фонд «Острова», 2023, 81 с.; Maeder M.L., Thibodeau-Beganny S., Osiak A., et al. Rapid “opensource” engineering of customized zinc-finger nucleases for highly efficient gene modification. Mol Cell. 2008 Jul 25;31(2):294-301. doi:10.1016/j.molcel.2008.06.016.; Ramalingam S., London V., Kandavelou K., et al. Generation and genetic engineering of human induced pluripotent stem cells using designed zinc finger nucleases. Stem Cells Dev. 2013; 22(4): 595-610.; Xia E., Zhang Y., Cao H., et al. TALEN-Mediated Gene Targeting for Cystic Fibrosis-Gene Therapy. Genes (Basel). 2019 Jan 11;10(1):39. doi:10.3390/genes10010039.; Vaidyanathan S., Kerschner J.L., Paranjapye A., et al. Investigating adverse genomic and regulatory changes caused by replacement of the full-length CFTR cDNA using Cas9 and AAV. Mol Ther Nucleic Acids. 2024 Feb 2;35(1):102134. doi:10.1016/j.omtn.2024.102134

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/2551
https://doi.org/10.25557/2073-7998.2024.09.3-17

Editing the c.3846G>A (p.Trp1282*) mutation in the CFTR gene in iPSCs using adenine editor ; Редактирование мутации c.3846G>A (p.Trp1282*) в гене CFTR в ИПСК с использованием аденинового редактора

Συγγραφείς: E. V. Kondrateva, A. G. Demchenko, A. V. Lavrov, S. A. Smirnikhina, Е. В. Кондратьева, А. Г. Демченко, А. В. Лавров, С. А. Смирнихина

Συνεισφορές: The work has been funded by the state assignment of the Ministry of Science and Higher Education of the Russian Federation., Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ».

Πηγή: Medical Genetics; Том 22, № 11 (2023); 20-26 ; Медицинская генетика; Том 22, № 11 (2023); 20-26 ; 2073-7998

Θεματικοί όροι: индуцированные плюрипотентные стволовые клетки, c.3846G>A (p.Trp1282, W1282X) mutation, CFTR gene, genome editing, base editors, induced pluripotent stem cells, мутация c.3846G>A (p.Trp1282, W1282X), ген CFTR, геномное редактирование, редакторы оснований

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2370/1749; Shteinberg M., Haq I.J., Polineni D., Davies J.C. Cystic fibrosis. Lancet. 2021 Jun 5;397(10290):2195-2211. doi:10.1016/S01406736(20)32542-3; Lopes-Pacheco M. CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine. Front Pharmacol. 2020 Feb 21;10:1662. doi:10.3389/fphar.2019.01662; Zainal Abidin N., Haq I.J., Gardner A.I., Brodlie M. Ataluren in cystic fibrosis: development, clinical studies and where are we now? Expert Opin Pharmacother. 2017 Sep;18(13):1363-1371. doi:10.1080/14656566.2017.1359255; Doudna J.A. The promise and challenge of therapeutic genome editing. Nature. 2020 Feb;578(7794):229-236. doi:10.1038/s41586020-1978-5; Anzalone A.V., Koblan L.W., Liu D.R. Genome editing with CRISPRCas nucleases, base editors, transposases and prime editors. Nat Biotechnol. 2020 Jul;38(7):824-844. doi:10.1038/s41587-020-0561-9; Komor A.C., Kim Y.B., Packer M.S., Zuris J.A., Liu .DR. Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. Nature. 2016 May 19;533(7603):4204. doi:10.1038/nature17946; Gaudelli N.M., Komor A.C., Rees H.A., Packer M.S., Badran A.H., Bryson D.I., Liu D.R. Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage. Nature. 2017 Nov 23;551(7681):464-471. doi:10.1038/nature24644; Lavrov A.V., Varenikov G.G., Skoblov M.Y. Genome scale analysis of pathogenic variants targetable for single base editing. BMC Med Genomics. 2020 Sep 18;13(Suppl 8):80. doi:10.1186/s12920-020-00735-8; Petrova N., Balinova N., Marakhonov A., Vasilyeva T., Kashirskaya N., Galkina V., Ginter E., Kutsev S., Zinchenko R. Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation. Front Genet. 2021 Jun 16;12:678374. doi:10.3389/fgene.2021.678374; Регистр пациентов с муковисцидозом в Российской Федерации. 2020 год. Под редакцией Е.И. Кондратьевой, С.А. Красовского, М.А. Стариновой, А.Ю. Воронковой, Е.Л. Амелиной, Н.Ю. Каширской, С.Н. Авдеева, С.И. Куцева. Москва: МЕДПРАКТИКА-М, 2022. 68 с.; Kondrateva E., Demchenko A., Slesarenko Y,. Pozhitnova V., Yasinovsky M., Amelina E., Tabakov V., Voronina E., Lavrov A., Smirnikhina S. Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutations. Stem Cell Research 2021; 52: 102232. DOI:10.1016/j.scr.2021.102232; Hwang G.H., Park J., Lim K., Kim S., Yu J., Yu E., Kim S.T., Eils R., Kim J.S., Bae S. Web-based design and analysis tools for CRISPR base editing. BMC Bioinformatics. 2018 Dec 27;19(1):542. doi:10.1186/s12859-018-2585-4; Clement K., Rees H., Canver M.C., Gehrke J.M., Farouni R., Hsu J.Y., Cole M.A., Liu D.R., Joung J.K., Bauer D.E., Pinello L. CRISPResso2 provides accurate and rapid genome editing sequence analysis. Nat Biotechnol. 2019 Mar; 37(3):224-226. doi:10.1038/s41587-019-0032-3; Hu J.H., Miller S.M., Geurts M.H., Tang W., Chen L., Sun N., Zeina C.M, Gao X., Rees H.A., Lin Z., Liu D.R. Evolved Cas9 variants with broad PAM compatibility and high DNA specificity. Nature. 2018 Apr 5;556(7699):57-63. doi:10.1038/nature26155; Rees H.A., Liu D.R. Base editing: precision chemistry on the genome and transcriptome of living cells. Nat Rev Genet. 2018 Dec;19(12):770-788. doi:10.1038/s41576-018-0059-1; Wilschanski M. Class 1 CF Mutations. Front Pharmacol. 2012 Jun 20;3:117. doi:10.3389/fphar.2012.00117; Demchenko A., Kondrateva E., Tabakov V., Efremova A., Salikhova D., Bukharova T., Goldshtein D., Balyasin M., Bulatenko N., Amelina E., Lavrov A., Smirnikhina S. Airway and Lung Organoids from HumanInduced Pluripotent Stem Cells Can Be Used to Assess CFTR Conductance. Int. J. Mol. Sci. 2023, 24, 6293. https://doi.org/10.3390/ijms24076293; Maxwell K.G., Millman J.R. Applications of iPSC-derived beta cells from patients with diabetes. Cell Rep Med. 2021 Apr 20;2(4):100238. doi:10.1016/j.xcrm.2021.100238; Fleischer A., Vallejo-Díez S., Martín-Fernández J.M., SánchezGilabert A., Castresana M., Del Pozo A., Esquisabel A., Ávila S., Castrillo J.L., Gaínza E., Pedraz J.L., Viñas M., Bachiller D. iPSCDerived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation. Mol Ther Methods Clin Dev. 2020 Apr 18;17:858-870. doi:10.1016/j.omtm.2020.04.005; Palmer D.J., Turner D.L., Ng P. A Single «All-in-One» HelperDependent Adenovirus to Deliver Donor DNA and CRISPR/ Cas9 for Efficient Homology-Directed Repair. Mol Ther Methods Clin Dev. 2020 Feb 4;17:441-447. doi:10.1016/j.omtm.2020.01.014; Suzuki S., Chosa K., Barillà C., Yao M., Zuffardi O., Kai H., Shuto T., Suico M.A., Kan Y.W., Sargent R.G., Gruenert D.C. Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events. Front Genome Ed. 2022 Apr 6;4:843885. doi:10.3389/fgeed.2022.843885; Johnson L.G., Olsen J.C., Sarkadi B., Moore K.L., Swanstrom R., Boucher R.C. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nat Genet. 1992 Sep;2(1):21-5. doi:10.1038/ng0992-21; Geurts M.H., de Poel E., Amatngalim G.D., et al. CRISPR-Based Adenine Editors Correct Nonsense Mutations in a Cystic Fibrosis Organoid Biobank [published online ahead of print, 2020 Feb 13]. Cell Stem Cell. 2020;S1934-5909(20)30019-9. doi:10.1016/j.stem.2020.01.019; Krishnamurthy S., Traore S., Cooney A.L., Brommel C.M., Kulhankova K., Sinn P.L., Newby GA, Liu DR, McCray PB. Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors. Nucleic Acids Res. 2021 Oct 11;49(18):10558-10572. doi:10.1093/nar/gkab788; Chiavetta R.F., Titoli S., Barra V., Cancemi P., Melfi R., Di Leonardo A. Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells. Int J Mol Sci. 2023 Jun 30;24(13):10940. doi:10.3390/ijms241310940; Melfi R., Cancemi P., Chiavetta R., Barra V., Lentini L., Di Leonardo A. Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons. Int J Mol Sci. 2020 Jul 6;21(13):4781. doi:10.3390/ijms21134781; Cuevas-Ocaña S., Yang J.Y., Aushev M., Schlossmacher G., Bear C.E., Hannan N.R.F., Perkins N.D., Rossant J., Wong A.P., Gray M.A. A Cell-Based Optimised Approach for Rapid and Efficient Gene Editing of Human Pluripotent Stem Cells. Int J Mol Sci. 2023 Jun 17;24(12):10266. doi:10.3390/ijms241210266; Erwood S., Laselva O., Bily T.M.I., Brewer R.A., Rutherford A.H., Bear C.E., Ivakine E.A. Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing. Mol Ther Methods Clin Dev. 2020 May 12;17:11181128. doi:10.1016/j.omtm.2020.05.002; Santos L., Mention K., Cavusoglu-Doran K., Sanz D.J., Bacalhau M., Lopes-Pacheco M., Harrison P.T., Farinha C.M. Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation. J Cyst Fibros. 2021 Jun 5:S15691993(21)00167-3. doi:10.1016/j.jcf.2021.05.014

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/2370
https://doi.org/10.25557/2073-7998.2023.11.20-26

Investigation of VPS33A protein function in mucopolysaccharidosis-plus syndrome ; Исследование функций белка VPS33A при мукополисахаридоз-плюс синдроме

Συγγραφείς: F. F. Vasilev, V. M. Sofronova, N. R. Maksimova, Y. . Kawakami, T. . Otomo, Ф. Ф. Васильев, В. М. Софронова, Н. Р. Максимова, Ю. . Каваками, Т. . Отомо

Πηγή: Medical Genetics; Том 21, № 12 (2022); 10-15 ; Медицинская генетика; Том 21, № 12 (2022); 10-15 ; 2073-7998

Θεματικοί όροι: эндоцитоз, VPS33A gene, genome editing, autophagy, endocytosis, ген VPS33A, геномное редактирование, аутофагия

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2206/1671; Kondo H., Maksimova N., Otomo T. et al. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. Hum Mol Genet. 2017;26:173-183; Vasilev F., Sukhomyasova A., Otomo T. Mucopolysaccharidosis-Plus Syndrome.Int J Mol Sci. 2020;21(2):421; Gissen P., Johnson C.A., Gentle D. et al.Comparative evolutionary analysis of VPS33 homologues: Genetic and functional insights. Hum Mol Genet. 2005;14:1261-1270; Baker R.W., Jeffrey P.D., Hughson F.M. Crystal Structures of the Sec1/Munc18 (SM) Protein Vps33, Alone and Bound to the Homotypic Fusion and Vacuolar Protein Sorting (HOPS) Subunit Vps16. PLoS ONE. 2013;8:e67409; Ran F.A., Hsu P.D., Wright J. et al. Genome engineering using the CRISPR-Cas9 system. Nat Protoc. 2013;8(11):2281-2308; Klionsky D.J., Abdelmohsen K., Abe A. et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016;12:1-222; Pavlova E., Shatunov A., Wartosch L. et al. The lysosomal disease caused by mutant VPS33A. Hum Mol Genet. 2019;28(15):2514-2530; Jiang P., Nishimura T., Sakamaki Y. et al. The HOPS complex mediates autophagosome-lysosome fusion through interaction with syntaxin 17. Mol Biol Cell. 2014;25:1327-1337

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/2206
https://doi.org/10.25557/2073-7998.2022.12.10-15

О понимании категории «геномные технологии» в медицинской деятельности ; Understanding of the category «genomic technologies» in medical activities

Συγγραφείς: Крайнюкова, А. Е., Krainyukova, A. E.

Θεματικοί όροι: геномные технологии, правовое регулирование, медицинское право, медицинская деятельность, геномная инженерия, геном, ген человека, геномная терапия, геномное редактирование, genomic technologies, legal regulation, medical law, medical activities, genomic engineering, genome, human gene, genomic therapy, genomic editing

Περιγραφή αρχείου: application/pdf

Relation: Вестник Тюменского государственного университета. Серия: Социально-экономические и правовые исследования. — 2025. — Т. 11, № 1 (41)

Διαθεσιμότητα: https://elib.utmn.ru/jspui/handle/ru-tsu/37848
https://doi.org/10.21684/2411-7897-2025-11-1-132-139

PRODUCTION OF POTATO PROTOPLASTS FOR GENOME EDITING

Πηγή: Биотехнология в растениеводстве, животноводстве и сельскохозяйственной микробиологии. :22-23

Θεματικοί όροι: ГЕНОМНОЕ РЕДАКТИРОВАНИЕ, POTATO PROTOPLASTS, GENOME EDITING, ПРОТОПЛАСТЫ КАРТОФЕЛЯ

Plant genome modification: from induced mutagenesis to genome editing ; Модификация геномов растений: от индуцированного мутагенеза до геномного редактирования

Συγγραφείς: A. B. Shcherban, А. Б. Щербань

Συνεισφορές: This work was supported by the budget project FWNR-2022-0041.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 26, № 7 (2022); 684-696 ; Вавиловский журнал генетики и селекции; Том 26, № 7 (2022); 684-696 ; 2500-3259 ; 10.18699/VJGB-22-72

Θεματικοί όροι: урожайность, transgenesis, genome editing, nucleases, CRISPR/Cas9, pathogen, resistance, yield, трансгенез, геномное редактирование, нуклеазы, патоген, устойчивость

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/3538
https://doi.org/10.18699/VJGB-22-83

CRISPR/Cas9 mediated knockout of the DES gene alleles with desminopathy-related heterozygous gain-of-function mutations ; Использование CRISPR/Cas9 для нокаута аллелей гена DES, несущих гетерозиготные gain-of-function мутации, связанные с развитием десминопатии

Συγγραφείς: K. S. Kochergin-Nikitsky, A. V. Lavrov, E. V. Zaklyazminskaya, S. A. Smirnikhina, К. С. Кочергин-Никитский, А. В. Лавров, Е. В. Заклязьминская, С. А. Смирнихина

Πηγή: Medical Genetics; Том 20, № 7 (2021); 37-44 ; Медицинская генетика; Том 20, № 7 (2021); 37-44 ; 2073-7998

Θεματικοί όροι: CRISPR/Cas9, desminopathy, DES, desmin, genome editing, десминопатия, ген DES, десмин, геномное редактирование

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/1947
https://doi.org/10.25557/2073-7998.2021.07.37-44

NUDT16L1 (TIRR) knockdown increases genome editing efficacy ; Нокдаун NUDT16L1 (TIRR) повышает эффективность геномного редактирования

Συγγραφείς: A. A. Anuchina, S. A. Smirnikhina, M. I. Zaynitdinova, A. G. Demchenko, O. S. Mishina, A. V. Lavrov, А. А. Анучина, С. А. Смирнихина, М. И. Зайнитдинова, А. Г. Демченко, О. С. Мишина, А. В. Лавров

Πηγή: Medical Genetics; Том 20, № 8 (2021); 3-10 ; Медицинская генетика; Том 20, № 8 (2021); 3-10 ; 2073-7998

Θεματικοί όροι: коррекция мутации, HDR, TIRR, NUDT16L1, genome editing, mutation correction, НГР, геномное редактирование

Περιγραφή αρχείου: application/pdf

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Hum Genet [Internet]. 2019 Jan 2 [cited 2019 Feb 5];138(1):1-19. Available from: http://www.ncbi.nlm.nih.gov/pubmed/30390160; Avolio R., Järvelin A.I., Mohammed S., Agliarulo I., Condelli V., Zoppoli P., et al. Protein Syndesmos is a novel RNA-binding protein that regulates primary cilia formation. Nucleic Acids Res. 2018;46(22):12067-86.; Kim H., Yoo J., Lee I., Kang Y.J., Cho H.S., Lee W. Crystal structure of syndesmos and its interaction with Syndecan-4 proteoglycan. Biochem Biophys Res Commun [Internet]. 2015 Jul 13 [cited 2020 Apr 3];463(4):762-7. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0006291X15300632; Baciu P.C., Saoncella S., Lee S.H., Denhez F., Leuthardt D., Goetinck P.F. Syndesmos, a protein that interacts with the cytoplasmic domain of syndecan-4, mediates cell spreading and actin cytoskeletal organization. J Cell Sci [Internet]. 2000 Jan [cited 2019 Nov 25];113 Pt 2:315-24. 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Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/1957
https://doi.org/10.25557/2073-7998.2021.08.3-10

NGS sequencing in barley breeding and genetic studies ; NGS-секвенирование в селекционно-генетических исследованиях ячменя

Συγγραφείς: I. V. Rozanova, E. K. Khlestkina, И. В. Розанова, Е. К. Хлесткина

Συνεισφορές: This work was supported by the Russian Science Foundation, project 16-14-00086.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 24, № 4 (2020); 348-355 ; Вавиловский журнал генетики и селекции; Том 24, № 4 (2020); 348-355 ; 2500-3259

Θεματικοί όροι: геномное редактирование, SNP, barley, genome, sequencing, throughput genotyping, genomic editing, ячмень, геном, секвенирование, высокопроизводительное генотипирование

Περιγραφή αρχείου: application/pdf

Relation: https://vavilov.elpub.ru/jour/article/view/2643/1390; Афанасенко О.С. Генетическая защита растений: проблемы и перспективы. Защита и карантин растений. 2016;1:13-16.; Брагина М.К., Афонников Д.А., Салина Е.А. Прогресс в секвенировании геномов растений – направления исследований. Вавиловский журнал генетики и селекции. 2019;23(1):38-48. DOI 10.18699/VJ19.459.; Короткова А.М., Герасимова С.В., Шумный В.К., Хлесткина Е.К. Гены сельскохозяйственных растений, модифицированные с помощью системы CRISPR/Cas. Вавиловский журнал генетики и селекции. 2017;21(2):250-258. DOI 10.18699/VJ17.244.; Хлесткина Е.К. Молекулярные методы анализа структурно-функциональной организации генов. Вавиловский журнал генетики и селекции. 2011;15(4):757-768.; Хлесткина Е.К. Молекулярные маркеры в генетических исследованиях и в селекции. Вавиловский журнал генетики и селекции. 2013;17(4/2):1044-1054.; Хлесткина Е.К., Шумный В.К. 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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/2643
https://doi.org/10.18699/VJ20.627

New genome editing technologies in the treatment of X-linked adrenoleukodystrophy ; Возможности новых технологий геномного редактирования в лечении Х-сцепленной адренолейкодистрофии

Συγγραφείς: V. Yu. Voinova, M. А. Shkolnikova, E. A. Nikolaeva, В. Ю. Воинова, М. А. Школьникова, Е. А. Николаева

Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 65, № 2 (2020); 104-107 ; Российский вестник перинатологии и педиатрии; Том 65, № 2 (2020); 104-107 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2020-65-2

Θεματικοί όροι: дети, Х-сцепленная адренолейкодистрофия, ген ABCD1, лечение, геномное редактирование, CRISPR/Cas9, клетки CD34+

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://www.ped-perinatology.ru/jour/article/view/1117
https://doi.org/10.21508/1027-4065-2020-65-2-104-107

OBTAINING PROTOPLASTS OF SUNFLOWER (HELIANTHUS ANNUUS L.) FOR GENOME EDITING

Συγγραφείς: Соловьев, A.A.

Πηγή: Биотехнология в растениеводстве, животноводстве и сельскохозяйственной микробиологии. :13-13

Θεματικοί όροι: 2. Zero hunger, GENOM EDITING, ГЕНОМНОЕ РЕДАКТИРОВАНИЕ, ПРОТОПЛАСТЫ, ПОДСОЛНЕЧНИК, SUNFLOWER, HELIANTHUS ANNUUS L, PROTOPLASTS

Increasing of barley productivity and adaptability by using genetic modification technologies ; Подходы к повышению продуктивности и адаптивности ячменя с помощью технологий генетической модификации

Συγγραφείς: A. V. Bakulina, I. G. Shirokikh, А. В. Бакулина, И. Г. Широких

Συνεισφορές: Russian Federation government, Правительство Российской Федерации

Πηγή: Agricultural Science Euro-North-East; Том 20, № 1 (2019); 5-19 ; Аграрная наука Евро-Северо-Востока; Том 20, № 1 (2019); 5-19 ; 2500-1396 ; 2072-9081

Θεματικοί όροι: геномное редактирование, stress tolerance, post-genomic selection, genetic transformation, genome editing, стрессоустойчивость, постгеномная селекция, генная трансформация

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://www.agronauka-sv.ru/jour/article/view/293
https://doi.org/10.30766/2072-9081.20.1.05-19

Genome-editing techniques to increase the therapeutic efficacy of monoclonal antibodies ; Геномное редактирование для оптимизации синтеза и повышения терапевтической эффективности рекомбинантных моноклональных антител

Συγγραφείς: Firstova V.V., Shemyakin I.G., Dyatlov I.A.

Συνεισφορές: The work was carried out in the framework of Agreement No. 075-15-2019-1671 of October 31, 2019 with the Ministry of Education and Science of Russia (task 2.8. Development of recombinant human monoclonal antibodies for the treatment of diseases caused by pathogenic microorganisms, bacterial and plant toxins)., Работа выполнена в рамках Соглашения № 075-15-2019-1671 от 31 октября 2019 г. с Минобрнауки России (задача 2.8 Разработка рекомбинантных человеческих моноклональных антител для лечения заболеваний, вызванных патогенными микроорганизмами, бактериальными и растительными токсинами).

Πηγή: Annals of the Russian academy of medical sciences; Vol 74, No 6 (2019); 378-387 ; Вестник Российской академии медицинских наук; Vol 74, No 6 (2019); 378-387 ; 2414-3545 ; 0869-6047 ; 10.15690/vramn746

Θεματικοί όροι: monoclonal antibodies, CHO cell line, genomic editing, CRISPR/CAS9, non-coding RNA, моноклональные антитела, клеточная линия СНО, геномное редактирование, некодирующие РНК

Περιγραφή αρχείου: application/pdf

Relation: https://vestnikramn.spr-journal.ru/jour/article/view/1113/1171; https://vestnikramn.spr-journal.ru/jour/article/view/1113/1174; https://vestnikramn.spr-journal.ru/jour/article/view/1113/1178; https://vestnikramn.spr-journal.ru/jour/article/downloadSuppFile/1113/887

Διαθεσιμότητα: https://vestnikramn.spr-journal.ru/jour/article/view/1113
https://doi.org/10.15690/vramn1113