Výsledky vyhľadávania - "редактирование"

Zdroj: 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

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

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Journal of Translational Medicine. 2017;15(1):84. doi:10.1186/s12967-017-1193-9.; Elborn J.S., Konstan M.W., Taylor-Cousar J.L. et al. Empire-CF study: A phase 2 clinical trial of leukotriene A4 hydrolase inhibitor acebilustat in adult subjects with cystic fibrosis. Journal of Cystic Fibrosis. 2021;20(6):1026-1034. doi:10.1016/j.jcf.2021.08.007.; Konstan M.W., Polineni D., Chmiel J.F. et al. Efficacy and safety of LAU-7b in a Phase 2 trial in adults with cystic fibrosis. Journal of Cystic Fibrosis. 2024;24(1):83-90. doi:10.1016/j.jcf.2024.07.004.; Chmiel J.F., Flume P., Downey D.G. et al. Lenabasum JBT101- CF-001 Study Group. Safety and efficacy of lenabasum in a phase 2 randomized, placebo-controlled trial in adults with cystic fibrosis. Journal of Cystic Fibrosis. 2021;20(1):78-85. doi:10.1016/j.jcf.2020.09.008.; Яковлев Я.Я., Бурнышева О.В., Готлиб М.Л и др. Микробиота нижних дыхательных путей и ее чувствительность к антибактериальным препаратам у больных муковисцидозом детей. Мать и Дитя в Кузбассе. 2022;3(90):41-47. doi:10.24412/2686-7338-2022-3-41-47.; Fischer R., Schwarz C., Weiser R. et al. Evaluating the alginate oligosaccharide (OligoG) as a therapy for Burkholderia cepacia complex cystic fibrosis lung infection. Journal of Cystic Fibrosis. 2022;21(5):821-829. doi:10.1016/j.jcf.2022.01.003.; Burgener E.B., Moss R.B. Cystic fibrosis transmembrane conductance regulator modulators: precision medicine in cystic fibrosis. Current opinion in pediatrics. 2018;30(3):372-377. doi:10.1097/MOP.0000000000000627.; Ломунова М.А., Гершович П.М. Генная терапия муковисцидоза: достижения и перспективы. Acta Naturae. 2023;15(2):20-31. doi:10.32607/actanaturae.11708.; Wille P.T., Rosenjack J., Cotton C. et al. Identification of AAV Developed for cystic fibrosis gene therapy that restores CFTR function in human cystic fibrosis patient cells. Journal of Cystic Fibrosis. 2019;18(39). doi:10.1016/S1569-1993(19)30241-3.; Taylor-Cousar J.L., Mermis J., Gifford A. et al. WS06.01 CFTR transgene expression in airway epithelial cells following aerosolized administration of the AAV-based gene therapy 4D-710 to adults with cystic fibrosis lung disease. Journal of Cystic Fibrosis. 2024;23(1):11. doi:10.1016/S1569-1993(24)00140-1.; Смирнихина С.А., Лавров А.В. Современное патогенетическое лечение и разработка новых методов генной и клеточной терапии муковисцидоза. Гены и клетки. 2018;13(3):23-31. doi:10.23868/201811029.; Robinson E., MacDonald K.D., Slaughter K. et al. Lipid nanoparticledelivered chemically modified mRNA restores chloride secretion in cystic fibrosis. Molecular Therapy. 2018;26(8):2034-2046. doi:10.1016/j.ymthe.2018.05.014.; Rowe S.M., Zuckerman J.B., Dorgan D. et al. Inhaled mRNA therapy for treatment of cystic fibrosis: Interim results of a randomized, double-blind, placebo-controlled phase 1/2 clinical study. Journal of Cystic Fibrosis. 2023;22(4):656-664. doi:10.1016/j.jcf.2023.04.008.; Davies J.C., Polineni D., Boyd A.C. et al. Lentiviral Gene Therapy for Cystic Fibrosis. A Promising Approach and First-in-Human Trial. American Journal of Respiratory and Critical Care Medicine. 2024;210(12):1398-1408. doi:10.1164/rccm.202402-0389CI.; Ishimaru D., Bhattacharjee R., Casillas J. et al. WS05.01 RCT2100 rescues CFTR function in human bronchial epithelial cells and improves mucociliary clearance in CF ferrets. Journal of Cystic Fibrosis. 2024;23(1):9. doi:10.1016/S1569-1993(24)00131-0.; Lee J.A., Cho A., Huang E.N. et al. Gene therapy for cystic fibrosis: new tools for precision medicine. Journal of Translational Medicine. 2021;19:1-15. doi:10.1186/s12967-021-03099-4.; Sui H., Xu X., Su Y. et al. Gene therapy for cystic fibrosis: Challenges and prospects. Frontiers in pharmacology. 2022;13:1015926. doi:10.3389/fphar.2022.1015926.; Wang G. Genome Editing for Cystic Fibrosis. Cells. 2023;12(12):1555. doi:10.3390/cells12121555.; Janik E., Niemcewicz M., Ceremuga M. et al. Various Aspects of a Gene Editing System-CRISPR-Cas9. International Journal of Molecular Sciences. 2020;21(24):9604. doi:10.3390/ijms21249604.; Liu Q., Sun Q., Yu J. Gene Editing’s Sharp Edge: Understanding Zinc Finger Nucleases (ZFN), Transcription Activator-Like Effector Nucleases (TALEN) and Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR). Transactions on Materials, Biotechnology and Life Sciences. 2024;3:170-179. doi:10.62051/e47ayw75.; Becker S., Boch J. TALE and TALEN genome editing technologies. Gene and Genome Editing. 2021;2:100007. doi:10.1016/j.ggedit.2021.100007.; Kantor A., McClements M.E., MacLaren R.E. CRISPR-Cas9 DNA Base-Editing and Prime-Editing. International Journal of Molecular Sciences. 2020;21(17):6240. doi:10.3390/ijms21176240.; Scholefield J., Harrison P.T. Prime editing — an update on the field. Gene Therapy. 2021;28(7):396–401. doi:10.1038/s41434-021-00263-9.; Куцев С.И., Ижевская В.Л., Кондратьева Е.И. Таргетная терапия при муковисцидозе. 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Assessment of safety and efficacy of long-term treatment with combination lumacaftor and ivacaftor therapy in patients with cystic fibrosis homozygous for the F508del-CFTR mutation (PROGRESS): a phase 3, extension study. The Lancet Respiratory Medicine. 2017;5(2):107–118. doi:10.1016/S2213-2600(16)30427-1.; Gavioli E.M., Guardado N., Haniff F. et al. A current review of the safety of cystic fibrosis transmembrane conductance regulator modulators. Journal of Clinical Pharmacy and Therapeutics. 2021;46(2):286–294. doi:10.1111/jcpt.13329.; Черменский А.Г., Гембицкая Т.Е., Орлов А.В. и др. Применение таргетной терапии лумакафтором/ивакафтором у больных муковисцидозом. Медицинский Совет. 2022;16(4):98-106. doi:10.21518/2079-701X-2022-16-4-98-106.; Taylor-Cousar J.L., Munck A., McKone E.F. et al. Tezacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del. 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Dostupnosť: https://www.medarhive.ru/jour/article/view/2045
https://doi.org/10.20514/2226-6704-2025-15-4-275-283

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Использование современных технических средств во внеурочной деятельности по литературе ; Ispol'zovanie sovremennykh tekhnicheskikh sredstv vo vneurochnoi deiatel'nosti po literature

Autori: Тимофеева Елена Николаевна Yelena N. Timofeyeva

Zdroj: A breakthrough in science: development strategies; 204-206 ; Новое слово в науке: стратегии развития; 204-206

Predmety: проектная деятельность, информационное общество, внеурочная деятельность, выразительное чтение, аудиофайл, современные технические средства, развитие интереса к чтению, аудиоредактор, базовое редактирование, Ocenaudio, Wavosaur, WavePad, Movavi Video Editor

Popis súboru: text/html

Relation: info:eu-repo/semantics/altIdentifier/isbn/978-5-6054101-1-9; https://interactive-plus.ru/e-articles/944/Action944-575316.pdf; Конокотин Э.О., Якушина Л.С., Полторак Д.И., Цесарский Л.Д. Использование средств звукозаписи в учебном процессе: метод. пособие. – М.: Высшая школа, 1975. – 160 с.; Технические средства обучения в общеобразовательной школе: учеб. пособие для студентов пед. ин-тов и учащихся пед. уч-щ / Г.И. Рах [и др.]. – 2-е изд., перераб. и доп. – М.: Просвещение, 1993. – 287 с.; Ступин А.А. Технические средства во внеурочной деятельности / А.А. Ступин [Электронный ресурс]. – Режим доступа: https://clck.ru/3Msr92 (дата обращения: 12.06.2025).; Тимофеева Е.Н. Использование современных технических средств в проектной деятельности по литературе / Е.Н. Тимофеева [Электронный ресурс]. – Режим доступа: https://pedsovet.su/load/28-1-0-59802 (дата обращения: 16.06.2025).

Dostupnosť: https://interactive-plus.ru/article/575316/discussion_platform

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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

Autori: A. S. Zueva A. I. Shevchenko S. P. Medvedev a ďalší

Prispievatelia: A. S. Zueva A. I. Shevchenko S. P. Medvedev a ďalší

Zdroj: 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

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

Popis súboru: application/pdf

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Induced pluripotent stem cells (iPSCs): molecular mechanisms of induction and applications. Signal Transduct Target Ther. 2024;9(1):112. doi 10.1038/s41392-024-01809-0; Chai A.C., Cui M., Chemello F., Li H., Chen K., Tan W., Atmanli A., McAnally J.R., Zhang Y., Xu L., Liu N., Bassel-Duby R., Olson E.N. Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice. Nat Med. 2023;29(2):401- 411. doi 10.1038/s41591-022-02176-5; Choppa P.C., Vojdani A., Tagle C., Andrin R., Magtoto L. Multiplex PCR for the detection of Mycoplasma fermentans, M. hominis and M. penetrans in cell cultures and blood samples of patients with chronic fatigue syndrome. Mol Cell Probes. 1998;12(5):301-308. doi 10.1006/mcpr.1998.0186; Cowan C.A., Klimanskaya I., McMahon J., Atienza J., Witmyer J., Zucker J.P., Wang S., Morton C.C., McMahon A.P., Powers D., Melton D.A. Derivation of embryonic stem-cell lines from human blastocysts. N Engl J Med. 2004;350(13):1353-1356. doi 10.1056/nejmsr040330; Ezhov M.V., Bazhan S.S., Ershova A.I., Meshkov A.N., Sokolov A.A., Kukharchuk V.V., Gurevich V.S., Voevoda M.I., Sergienko I.V., Shakhtshneider E.V., Pokrovsky S.N., Konovalov G.A., Leontyeva I.V., Konstantinov V.O., Shcherbakova M.Yu., Zakharova I.N., Balakhonova T.V., Filippov A.E., Akhmedzhanov N.M., Aleksandrova O.Yu., Lipovetsky B.M. Clinical guidelines for familial hypercholesterolemia. Ateroscleroz. 2019;15(1):58-98 (in Russian); Ference B.A., Ginsberg H.N., Graham I., Ray K.K., Packard C.J., Bruckert E., Hegele R.A., Krauss R.M., Raal F.J., Schunkert H., Watt G.F., Borén J., Fazio S., Horton J.D., Masana L., Nicholls S.J., Nordestgaard B.G., Van De Sluis B., Taskinen M.R., Tokgözoǧlu L., Landmesser U., Laufs U., Wiklund O., Stock J.K., Chapman M.J., Catapano A.L. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. Eur Heart J. 2017;38(32):2459- 2472. doi 10.1093/eurheartj/ehx144; Fularski P., Hajdys J., Majchrowicz G., Stabrawa M., Młynarska E., Rysz J., Franczyk B. Unveiling familial hypercholesterolemia – review, cardiovascular complications, lipid-lowering treatment and its efficacy. Int J Mol Sci. 2024;25(3):1637. doi 10.3390/ijms25031637; 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;551(7681): 464-471. doi 10.1038/nature24644; Grigor’eva E.V., Malakhova A.A., Yarkova E.S., Minina J.M., Vyatkin Y.V., Nadtochy J.A., Khabarova E.A., Rzaev J.A., Medvedev S.P., Zakian S.M. Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene. Vavilovskii Zhurnal Genetiki i Selektsii = Vavilov J Genet Breed. 2024;28(7):679-687. doi 10.18699/vjgb-24-76; Gu J., Gupta R.N., Cheng H.K., Xu Y., Raal F.J. Current treatments for the management of homozygous familial hypercholesterolaemia: a systematic review and commentary. Eur J Prev Cardiol. 2024; 31(15):1833-1849. doi 10.1093/eurjpc/zwae144; Harada-Shiba M. Impact of familial hypercholesterolemia diagnosis in real-world data. J Atheroscler Thromb. 2023;30(10):1303. doi 10.5551/jat.ED241; Hendricks-Sturrup R.M., Clark-Locascio J., Lu C.Y. A global review on the utility of genetic testing for familial hypercholesterolemia. J Pers Med. 2020;10(2):23. doi 10.3390/pm10020023; Hofer M., Lutolf M.P. Engineering organoids. Nat Rev Mater. 2021; 6(5):402-420. doi 10.1038/s41578-021-00279-y; Hopkins P.N., Toth P.P., Ballantyne C.M., Rader D.J. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the national lipid association expert panel on familial hypercholesterolemia. J Clin Lipidol. 2011;5(3):S9. doi 10.1016/j.jacl.2011.03.452; 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;556(7699):57-63. doi 10.1038/nature26155; Huang C.C., Niu D.M., Charng M.J. Genetic analysis in a Taiwanese cohort of 750 index patients with clinically diagnosed familial hypercholesterolemia. J Atheroscler Thromb. 2022;29(5):639-653. doi 10.5551/jat.62773; Jannes C.E., Santos R.D., de Souza Silva P.R., Turolla L., GagliardiA.C.M., Marsiglia J.D.C., ChacraA.P., Miname M.H., Rocha V.Z., Filho W.S., Krieger J.E., Pereira A.C. Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. Atherosclerosis. 2015;238(1):101-107. doi 10.1016/j.atherosclerosis.2014.11.009; Kannan S., Farid M., Lin B.L., Miyamoto M., Kwon C. Transcriptomic entropy benchmarks stem cell-derived cardiomyocyte maturation against endogenous tissue at single cell level. PLoS Comput Biol. 2021;17(9):e1009305. doi 10.1371/journal.pcbi.1009305; Kawatani K., Nambara T., Nawa N., Yoshimatsu H., Kusakabe H., Hirata K., Tanave A., Sumiyama K., Banno K., Taniguchi H., Arahori H., Ozono K., Kitabatake Y. A human isogenic iPSC-derived cell line panel identifies major regulators of aberrant astrocyte proliferation in Down syndrome. 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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

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https://doi.org/10.18699/vjgb-25-22

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