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

Περιγραφή αρχείου: application/pdf

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

Generation and characterisation of seven induced pluripotent stem cell lines from two patients with Parkinson’s disease carrying the pathological variant c.1087G>T of the LGR4 gene ; Создание и характеристика семи линий индуцированных плюрипотентных стволовых клеток от двух пациентов с болезнью Паркинсона, несущих вариант c.1087G>T гена LGR4

Συγγραφείς: V. S. Podvysotskaya, E. V. Grigor’eva, A. A. Malakhova, J. M. Minina, Y. V. Vyatkin, E. A. Khabarova, J. A. Rzaev, S. P. Medvedev, L. V. Kovalenko, S. M. Zakian, В. С. Подвысоцкая, Е. В. Григорьева, А. А. Малахова, Ю. М. Минина, Ю. В. Вяткин, Е. А. Хабарова, Дж. А. Рзаев, С. П. Медведев, Л. В. Коваленко, С. М. Закиян

Συνεισφορές: The study was carried out with the financial support of the Foundation for Scientific and Technological Development of Yugra within the framework of scientific project No. 2023-573-05, Исследование выполнено при финансовой поддержке Фонда научно-технологического развития Югры в рамках научного проекта № 2023-573-05.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 29, № 1 (2025); 15-25 ; Вавиловский журнал генетики и селекции; Том 29, № 1 (2025); 15-25 ; 2500-3259 ; 10.18699/vjgb-25-01

Θεματικοί όροι: ген LGR4, reprogramming, induced pluripotent stem cells, LGR4 gene, репрограммирование, индуцированные плюрипотентные стволовые клетки

Περιγραφή αρχείου: application/pdf

Relation: https://vavilov.elpub.ru/jour/article/view/4469/1910; 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 stem­cell lines from human blastocysts. N Engl J Med. 2004;350(13):1353­1356. doi:10.1056/NEJMsr040330; Fernandes H.J.R., Hartfield E.M., Christian H.C., Emmanoulidou E., Zheng Y., Booth H., Bogetofte H., Lang C., Ryan B.J., Sardi S.P., Badger J., Vowles J., Evetts S., Tofaris G.K., Vekrellis K., Talbot K., Hu M.T., James W., Cowley S.A., Wade­Martins R. ER stress and autophagic perturbations lead to elevated extracellular α-synuclein in GBA­N370S Parkinson’s iPSC­derived dopamine neurons. Stem Cell Rep. 2016;6(3):342­356. doi:10.1016/j.stemcr.2016.01.013; Funayama M., Nishioka K., Li Y., Hattori N. Molecular genetics of Parkinson’s disease: сontributions and global trends. J Hum Genet. 2023;68(3):125­130. doi:10.1038/s10038­022­01058­5; Grigor’eva E.V., Kopytova A.E., Yarkova E.S., Pavlova S.V., Sorogina D.A., Malakhova A.A., Malankhanova T.B., Baydakova G.V., Zakharova E.Y., Medvedev S.P., Pchelina S.N., Zakian S.M. Bioche­ mical characteristics of iPSC­derived dopaminergic neurons from N370S GBA variant carriers with and without Parkinson’s disease. Int J Mol Sci. 2023;24:4437. doi:10.3390/ijms24054437; Grigor’eva E.V., Karapetyan L.V., Malakhova A.A., Medvedev S.P., Minina J.M., Hayrapetyan V.H., Vardanyan V.S., Zakian S.M., Ara­kelyan A., Zakharyan R. Generation of iPSCs from a patient with the M694V mutation in the MEFV gene associated with Familial Mediterranean fever and their differentiation into macrophages. Int J Mol Sci. 2024a;25:6102. doi:10.3390/ijms25116102; 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 in duced pluripotent stem cell lines (ICGi052­A and ICGi052­B) from a patient with frontotemporal dementia with parkinsonism­17 associated with the pathological variant c.2013T>G in the MAPT gene. Vavilovskii Zhurnal Genetiki i Selektsii = Vavilov J Genet Breed. 2024b;28(7):679­687. doi:10.18699/vjgb­24­76; Hastings R., Howell R., Bricarelli F.D., Kristoffersson U., Cavani S. General guidelines and quality assurance for cytogenetics. Eur Cytogenet Assoc Newsl. 2012;29:11­25 ISCN 2020: An International System for Human Cytogenomic Nomen­ clature. S. Karger AG, 2020. doi:10.1159/isbn.978­3­318­06867­2; Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real­time quantitative PCR and the 2−ΔΔCT method. 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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/4469
https://doi.org/10.18699/vjgb-25-03

Detection of recurrent chromosome 12 aneuploidy in human induced pluripotent stem cells using FISH with custom centromeric DNA-probes ; Создание собственных несерийных ДНК-зондов для выявления рекуррентной анеуплоидии по хромосоме 12 в индуцированных плюрипотентных стволовых клетках человека методом FISH

Συγγραφείς: L. И. Gumerova, D. Г. Zheglo, V. O. Pozhitnova, P. S. Sviridov, A. V. Kislova, V. V. Sviridova, D. S. Kiselev, N. С. Mingaleva, A. Alsalloum, E. А. Gornostal, E. S. Voronina, Л. И. Гумерова, Д. Г. Жегло, В. О. Пожитнова, Ф. С. Свиридов, А. В. Кислова, В. В. Свиридова, Д. С. Киселев, Н. С. Мингалёва, А. Алсаллум, Е. А. Горносталь, Е. С. Воронина

Συνεισφορές: Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ МГНЦ.

Πηγή: Medical Genetics; Том 23, № 11 (2024); 34-39 ; Медицинская генетика; Том 23, № 11 (2024); 34-39 ; 2073-7998

Θεματικοί όροι: анеуплоидия, induced pluripotent stem cells, IPSC, chromosome 12, centromere, aneuploidy, индуцированные плюрипотентные стволовые клетки, иПСК, хромосома 12, центромера

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2571/1828; Deng C., Ya A., Compton D.A., Godek K.M. A pluripotent developmental state confers a low fidelity of chromosome segregation. Stem Cell Reports. 2023;18(2):475-488. doi:10.1016/j.stemcr.2022.12.008.; Milagre I., Pereira C., Oliveira R.A. Compromised Mitotic Fidelity in Human Pluripotent Stem Cells. Int J Mol Sci. 2023 Jul 25;24(15):11933. doi:10.3390/ijms241511933.; Al Delbany D., Ghosh M.S., Krivec N., et al. De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture. Cells. 2024;13(16):1395. doi:10.3390/cells13161395.; Stavish D., Price C.J., Gelezauskaite G., et al. Feeder-free culture of human pluripotent stem cells drives MDM4-mediated gain of chromosome 1q. Stem Cell Reports. 2024;19(8):1217-1232. doi:10.1016/j.stemcr.2024.06.003.; DuBose C.O., Daum J.R., Sansam C.L., Gorbsky GJ. Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells. Genes (Basel). 2022;13(7):1157. doi:10.3390/genes13071157.; Baker D., Hirst A.J., Gokhale P.J, et al. Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells. Stem Cell Reports. 2016;7(5):998-1012. doi:10.1016/j.stemcr.2016.10.003.; Ludwig T.E., Andrews P.W., Barbaric I., et al. ISSCR standards for the use of human stem cells in basic research. Stem Cell Reports. 2023;18(9):1744-1752. doi:10.1016/j.stemcr.2023.08.003.; McIntire E., Taapken S., Leonhard K., Larson A.L. Genomic Stability Testing of Pluripotent Stem Cells. Curr Protoc Stem Cell Biol. 2020 Mar;52(1):e107. doi:10.1002/cpsc.107.; Ben-David U., Arad G., Weissbein U. et al. Aneuploidy induces profound changes in gene expression, proliferation and tumorigenicity of human pluripotent stem cells. Nat Commun. 2014; 5, 4825. Doi:10.1038/ncomms5825.; Khademi N.S., Farivar S., Bazrgar M., et al. Aneuploidy Rate and Stemness in Low-Level Mosaic Human Embryonic Stem Cells in the Presence/Absence of Bortezomib, Paclitaxel, and Lapatinib. Cells Tissues Organs. 2024;213(1):17-23. doi:10.1159/000526199.; Lamm N., Ben-David U., Golan-Lev T., et al. Genomic Instability in Human Pluripotent Stem Cells Arises from Replicative Stress and Chromosome Condensation Defects. Cell Stem Cell. 2016;18(2):253-61. doi:10.1016/j.stem.2015.11.003.; Yanagihara K., Hayashi Y., Liu Y., et al. Trisomy 12 compromises the mesendodermal differentiation propensity of human pluripotent stem cells. In Vitro Cell Dev Biol Anim. 2024;60(5):521-534. doi:10.1007/s11626-023-00824-9.; Contreras-Galindo R., Fischer S., Saha A.K. et al. Rapid molecular assays to study human centromere genomics. Genome Res. 2017;27(12):2040-2049. doi:10.1101/gr.219709.116.; Sharma R., Meister P. Generation of Inexpensive, Highly Labeled Probes for Fluorescence In Situ Hybridization (FISH). STAR Protoc. 2020;1(1):100006. doi:10.1016/j.xpro.2019.100006.; Lengauer C., Dunham I., Featherstone T., Cremer T. Generation of alphoid DNA probes for fluorescence in situ hybridization (FISH) using the polymerase chain reaction. Methods Mol Biol. 1994; 33: 51-61. doi:10.1385/0-89603-280-9:51. PMID: 7894592.; Zhigalina D.I., Skryabin N.A., Vasilieva O.Y. et al. FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR. Russ J Genet. 2020; 5 6:739–746. https://doi.org/10.1134/S1022795420060150; Durm M., Haar F.M., Hausmann M., et al. Optimization of fast-fluorescence in situ hybridization with repetitive alpha-satellite probes. Z Naturforsch C J Biosci. 1996;51(3-4):253-61. doi:10.1515/znc-1996-3-418.; Пожитнова В.О., Свиридова В.В., Кислова А.В., и др. Аномалии кариотипа в линиях индуцированных плюрипотентных стволовых клеток, полученных от российских доноров. Медицинская генетика. 2023;22(12):59-66. https://doi.org/10.25557/2073-7998.2023.12.59-66; Dekel-Naftali M., Aviram-Goldring A., Litmanovitch T., et al. Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q. Eur J Hum Genet. 2012;20(12):1248-55. doi:10.1038/ejhg.2012.128.; Peterson S.E., Westra J.W., Rehen S.K., et al. Normal human pluripotent stem cell lines exhibit pervasive mosaic aneuploidy. PLoS One. 2011;6(8):e23018. doi:10.1371/journal.pone.0023018

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/2571
https://doi.org/10.25557/2073-7998.2024.11.34-39

Cемейная гиперхолестеринемия: современные сведения и проблемы моделирования

Συγγραφείς: И.С. Захарова, А.И. Шевченко, С.М. Закиян

Πηγή: Письма в Вавиловский журнал генетики и селекции, Vol 10, Iss 1, Pp 5-14 (2024)

Θεματικοί όροι: семейная гиперхолестеринемия, атеросклероз, рецептор липопротеинов низкой плотности, клеточные модели, индуцированные плюрипотентные стволовые клетки, эндотелий, Genetics, QH426-470

Περιγραφή αρχείου: electronic resource

Relation: https://pismavavilov.ru/wp-content/uploads/2024/03/003-PVJ-Zakharova_10_1.pdf; https://doaj.org/toc/2686-8482

Σύνδεσμος πρόσβασης: https://doaj.org/article/405e6d3506794b49af73e986c80648f4

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 ; Создание и характеристика двух линий индуцированных плюрипотентных стволовых клеток (ICGi052-A и ICGi052-B) от пациента с лобно-височной деменцией с паркинсонизмом-17, ассоциированной с патологическим вариантом c.2013T>G в гене MAPT

Συγγραφείς: E. V. Grigor’eva, A. A. Malakhova, E. S. Yarkova, J. M. Minina, Y. V. Vyatkin, J. A. Nadtochy, E. A. Khabarova, J. A. Rzaev, S. P. Medvedev, S. M. Zakian, Е. В. Григорьева, А. А. Малахова, Е. С. Яркова, Ю. М. Минина, Ю. В. Вяткин, Ю. А. Надточий, Е. А. Хабарова, Дж. А. Рзаев, С. П. Медведев, С. М. Закиян

Συνεισφορές: The study was supported by the Ministry of Science and Higher Education of the Russian Federation, Agreement No. 075-15-2021-1063/10.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 28, № 7 (2024); 679-687 ; Вавиловский журнал генетики и селекции; Том 28, № 7 (2024); 679-687 ; 2500-3259 ; 10.18699/vjgb-24-75

Θεματικοί όροι: ген MAPT, induced pluripotent stem cells, MAPT gene, индуцированные плюрипотентные стволовые клетки

Περιγραφή αρχείου: application/pdf

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The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. J. Neurosci. 2007;27(34):9155-9168. DOI 10.1523/JNEUROSCI.5492-06.2007; D’Souza I., Schellenberg G.D. Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Δ280K and N279K. J. Biol. Chem. 2006;281: 2460-2469. DOI 10.1074/jbc.M505809200; Esmaeli-Azad B., McCarty J.H., Feinstein S.C. Sense and antisense transfection analysis of tau function: tau influences net microtubule assembly, neurite outgrowth and neuritic stability. J. Cell Sci. 1994; 107(4):869-879. DOI 10.1242/jcs.107.4.869; Esteras N., Kundel F., Amodeo G.F., Pavlov E.V., Klenerman D., Abramov A.Y. Insoluble tau aggregates induce neuronal death through modification of membrane ion conductance, activation of voltage-gated calcium channels and NADPH oxidase. FEBS J. 2021;288(1):127-141. DOI 10.1111/febs.15340; Ghetti B., Oblak A.L., Boeve B.F., Johnson K.A., Dickerson B.C., Goedert M. Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging. Neuropathol. Appl. Neurobiol. 2015;41(1):24-46. DOI 10.1111/nan.12213; Grigor’eva E.V., Kopytova A.E., Yarkova E.S., Pavlova S.V., Sorogina D.A., Malakhova A.A., Malankhanova T.B., Baydakova G.V., Zakharova E.Y., Medvedev S.P., Pchelina S.N., Zakian S.M. Biochemical characteristics of iPSC-derived dopaminergic neurons from N370S GBA variant carriers with and without Parkinson’s disease. Int. J. Mol. Sci. 2023;24(5):4437. DOI 10.3390/ijms24054437; Hasegawa M., Smith M.J., Iijima M., Tabira T., Goedert M. FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett. 1999;443(2):93-96. DOI 10.1016/S0014-5793(98)01696-2; Hernández F., Merchán-Rubira J., Vallés-Saiz L., Rodríguez-Matellán A., Avila J. Differences between human and murine tau at the N-terminal end. Front. Aging Neurosci. 2020;12:11. DOI 10.3389/fnagi.2020.00011; Iovino M., Agathou S., González-Rueda A., Del Castillo VelascoHerrera M., Borroni B., Alberici A., Lynch T., O’Dowd S., Geti I., Gaffney D., Vallier L., Paulsen O., Káradóttir R.T., Spillantini M.G. Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations. Brain. 2015;138(11):3345-3359. DOI 10.1093/brain/awv222; Korn L., Speicher A.M., Schroeter C.B., Gola L., Kaehne T., Engler A., Disse P., Fernández-Orth J., Csatári J., Naumann M., Seebohm G., Meuth S.G., Schöler H.R., Wiendl H., Kovac S., Pawlowski M. 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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/4341
https://doi.org/10.18699/vjgb-24-76

Clinical and Immunological Analysis of Retinal Pigment Epithelium Transplantation Derived from Induced Pluripotent Stem Cells under Pharmacological Immunosuppression in Rabbits ; Клинико-иммунологический анализ трансплантации ретинального пигментного эпителия, полученного из индуцированных плюрипотентных стволовых клеток, в условиях фармакологической иммуносупрессии у кроликов

Συγγραφείς: N. V. Neroeva, N. V. Balatskaya, A. G. Brilliantova, L. A. Katargina, A. E. Kharitonov, M. A. Lagarkova, A. N. Bogomazova, Н. В. Нероева, Н. В. Балацкая, А. Г. Бриллиантова, Л. А. Катаргина, А. Е. Харитонов, М. А. Лагарькова, А. Н. Богомазова

Πηγή: Ophthalmology in Russia; Том 21, № 1 (2024); 193-204 ; Офтальмология; Том 21, № 1 (2024); 193-204 ; 2500-0845 ; 1816-5095 ; 10.18008/1816-5095-2024-1

Θεματικοί όροι: иммуносупрессия, atrophy, induced pluripotent stem cells, transplantation, immunoreactivity, cytokine, immunosuppression, атрофия, индуцированные плюрипотентные стволовые клетки, трансплантация, иммунореактивность, цитокины

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://www.ophthalmojournal.com/opht/article/view/2311
https://doi.org/10.18008/1816-5095-2024-1-193-204

Technologies of regenerative medicine as a method of treatment of male infertility: literature review ; Технологии регенеративной медицины как метод лечения мужского бесплодия: обзор литературы

Συγγραφείς: M. V. Epifanova, А. А. Kostin, А. А. Epifanov, K. A. Kirillova, М. В. Епифанова, А. А. Костин, А. А. Епифанов, К. А. Кириллова

Πηγή: Andrology and Genital Surgery; Том 25, № 2 (2024); 17-30 ; Андрология и генитальная хирургия; Том 25, № 2 (2024); 17-30 ; 2412-8902 ; 2070-9781

Θεματικοί όροι: индуцированные плюрипотентные стволовые клетки, stem cells, platelet rich plasma, exosomes, spermatogonial stem cells, induced pluripotent stem cells, стволовые клетки, аутоплазма, обогащенная тромбоцитарными факторами роста, экзосомы, сперматогониальные стволовые клетки

Περιγραφή αρχείου: application/pdf

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Применение технологий регенеративной медицины при сексуальной дисфункции и нарушении фертильности у мужчин : дис. . д-р. мед. наук : 3.1.13 / Епифанова Майя Владимировна. – М., 2021. – 400 с.; Епифанова М.В., Епифанов А.А., Артеменко С.А. Способ протекции и восстановления сперматогенеза при оперативных вмешательствах на семенном канатике, яичке, придатке яичка. – Патент на изобретение РФ №2735888. Москва. 09 ноября 2020. // Бюллетень No 31 от 09.11.2020; Епифанова М.В., Епифанов А.А., Артеменко С.А. Способ лечения мужского бесплодия. – Патент на изобретение РФ №2738543. Москва. 14 декабря 2020. // Бюллетень No 35 от 14.12.2020; https://agx.abvpress.ru/jour/article/view/755

Διαθεσιμότητα: https://agx.abvpress.ru/jour/article/view/755
https://doi.org/10.62968/2070-9781-2024-25-2-17-30

ПОЛУЧЕНИЕ ИНСУЛИН-ПРОДУЦИРУЮЩИХ КЛЕТОК ИЗ ЭМБРИОНАЛЬНЫХ И ИНДУЦИРОВАННЫХ ПЛЮРИПОТЕНТНЫХ СТВОЛОВЫХ КЛЕТОК

Συγγραφείς: L. A. Mozheiko

Πηγή: Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, Vol 19, Iss 4, Pp 376-381 (2021)

Θεματικοί όροι: инсулин-продуцирующие клетки, эмбриональные стволовые клетки, индуцированные плюрипотентные стволовые клетки, сахарный диабет, Medicine

Περιγραφή αρχείου: electronic resource

Relation: http://journal-grsmu.by/index.php/ojs/article/view/2677; https://doaj.org/toc/2221-8785; https://doaj.org/toc/2413-0109

Σύνδεσμος πρόσβασης: https://doaj.org/article/0642adc42b9a4ba1a41f6043b524bf4b

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

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

Направленное редактирование геномов индуцированных плюрипотентных стволовых клеток человека как инструмент функционального анализа генетических вариантов

Συγγραφείς: Медведев, Сергей Петрович, Ахмерова, Валерия Игоревна, Надточий, Юлия Андреевна, Григорьева, Елена Викторовна, Павлова, Софья Викторовна, Закиян, Сурен Минасович

Πηγή: Вестник Томского государственного университета. Биология. 2025. № 69. С. 113-121

Θεματικοί όροι: индуцированные плюрипотентные стволовые клетки, клеточные модели, Паркинсона болезнь, лобно-височная деменция с паркинсонизмом-17, редактирование геномов

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Relation: koha:001154769; https://vital.lib.tsu.ru/vital/access/manager/Repository/koha:001154769

Διαθεσιμότητα: https://doi.org/10.17223/19988591/69/13
https://vital.lib.tsu.ru/vital/access/manager/Repository/koha:001154769

Моделирование нейродегенеративных заболеваний, вызванных протеинопатией, на культурах клеток человека

Συγγραφείς: Малахова, Анастасия Александровна, Аллаярова, Элина Равильевна, Шарипова, Динара Витальевна, Павлова, Софья Викторовна, Григорьева, Елена Викторовна, Медведев, Сергей Петрович, Закиян, Сурен Минасович

Πηγή: Вестник Томского государственного университета. Биология. 2025. № 69. С. 103-112

Θεματικοί όροι: клеточные модели, протеинопатия, альфа-синуклеин, нейродегенеративные заболевания, индуцированные плюрипотентные стволовые клетки

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Relation: koha:001154768; https://vital.lib.tsu.ru/vital/access/manager/Repository/koha:001154768

Διαθεσιμότητα: https://doi.org/10.17223/19988591/69/12
https://vital.lib.tsu.ru/vital/access/manager/Repository/koha:001154768

MOLECULAR MECHANISMS OF PLURIPOTENCY INDUCTION AND REPROGRAMMING OF SOMATIC CELLS

Συγγραφείς: T.O. DEPUTATOVA

Πηγή: Biotechnologia Acta, Vol 10, Iss 1, Pp 17-25 (2017)

Θεματικοί όροι: 0301 basic medicine, PLURIPOTENCY INDUCTION,REPROGRAMMING,SOMATIC CELLS,INDUCED PLURIPOTENT STEM CELLS,іНДУКЦіЯ ПЛЮРИПОТЕНТНОСТі,ПЕРЕПРОГРАМУВАННЯ,СОМАТИЧНі КЛіТИНИ,іНДУКОВАНі ПЛЮРИПОТЕНТНі СТОВБУРОВі КЛіТИНИ,ИНДУКЦИЯ ПЛЮРИПОТЕНТНОСТИ,ПЕРЕПРОГРАММИРОВАНИЕ,СОМАТИЧЕСКИЕ КЛЕТКИ,ИНДУЦИРОВАННЫЕ ПЛЮРИПОТЕНТНЫЕ СТВОЛОВЫЕ КЛЕТКИ, 03 medical and health sciences, induced pluripotent stem cells, reprogramming, TP248.13-248.65, pluripotency induction, somatic cells, Biotechnology

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Σύνδεσμος πρόσβασης: http://biotechnology.kiev.ua/index.php?view=article&catid=118%3A2017-1&id=714%3A2017-05-08-12-22-51&format=pdf&option=com_content&Itemid=140&lang=en
https://doaj.org/article/8bf29a3965eb41048e61392a6c0e2506
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Transcriptional profiling of iPSC-derived neurons with reciprocal monogenic CNV in 3p26.3 region ; Транскриптомное профилирование нейронов, дифференцированных из индуцированных плюрипотентных стволовых клеток пациентов с реципрокными моногенными CNV в субсегменте 3p26.3

Συγγραφείς: M. E. Lopatkina, V. S. Fishman, M. M. Gridina, N. A. Skryabin, T. V. Nikitina, A. A. Kashevarova, L. P. Nazarenko, O. L. Serov, I. N. Lebedev, М. Е. Лопаткина, В. С. Фишман, М. М. Гридина, Н. А. Скрябин, Т. В. Никитина, А. А. Кашеварова, Л. П. Назаренко, О. Л. Серов, И. Н. Лебедев

Πηγή: Medical Genetics; Том 19, № 3 (2020); 10-11 ; Медицинская генетика; Том 19, № 3 (2020); 10-11 ; 2073-7998

Θεματικοί όροι: induced pluripotent stem cells, CNTN6, дифференциальная экспрессия генов, индуцированные плюрипотентные стволовые клетки, intellectual disability, differential gene expression

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/811/483

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/811
https://doi.org/10.25557/2073-7998.2020.03.10-11

A Platform for Studying Molecular and Cellular Mechanisms of Parkinson’s Disease Based on Human Induced Pluripotent Stem Cells

Συγγραφείς: E.V. Novosadova, E.D. Nekrasov, I.V. Chestkov, A.V. Surdina, E.M. Vasina, A.N. Bogomazova, E.S. Manuilova, E.L. Arsenyeva, V.V. Simonova, E.V. Konovalova, E.Yu. Fedotova, N.Yu. Abramycheva, L.G. Khaspekov, I.A. Grivennikov, V.Z. Tarantul, S.L. Kiselev, S.N. Illarioshkin

Πηγή: Sovremennye tehnologii v medicine. 8:157-166

Θεματικοί όροι: 0301 basic medicine, 03 medical and health sciences, cell reprogramming, induced pluripotent stem cells, platform for iPSC, fibroblasts, dopaminergic neurons, Parkinson's disease, КЛЕТОЧНОЕ РЕПРОГРАММИРОВАНИЕ,ИНДУЦИРОВАННЫЕ ПЛЮРИПОТЕНТНЫЕ СТВОЛОВЫЕ КЛЕТКИ,ПЛАТФОРМА ДЛЯ ИПСК,ФИБРОБЛАСТЫ,ДОФАМИНЕРГИЧЕСКИЕ НЕЙРОНЫ,БОЛЕЗНЬ ПАРКИНСОНА

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Σύνδεσμος πρόσβασης: http://www.stm-journal.ru/en/numbers/2016/4/1293/pdf
https://cyberleninka.ru/article/n/a-platform-for-studying-molecular-and-cellular-mechanisms-of-parkinson-s-disease-based-on-human-induced-pluripotent-stem-cells-1/pdf
http://www.stm-journal.ru/en/numbers/2016/4/1293
https://cyberleninka.ru/article/n/a-platform-for-studying-molecular-and-cellular-mechanisms-of-parkinson-s-disease-based-on-human-induced-pluripotent-stem-cells-1
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http://cyberleninka.ru/article/n/a-platform-for-studying-molecular-and-cellular-mechanisms-of-parkinson-s-disease-based-on-human-induced-pluripotent-stem-cells
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Методы редактирования генома. ; Genome editing methods

Συγγραφείς: Bystrykh, S. A., Proschenko, D. A., Быстрых, С. А., Прощенко, Д. А.

Πηγή: Сборник статей

Θεματικοί όροι: GEN, MUTATION, GENOME EDITING, NEURODEGENERATIVE DISEASES, INDUCED PLURIPOTENT STEM CELLS (IPSCS), ZFN, TALEN, CRISPR/CAS9, ГЕН, МУТАЦИЯ, РЕДАКТИРОВАНИЕ ГЕНОМА, НЕЙРОДЕГЕНЕРАТИВНЫЕ ЗАБОЛЕВАНИЯ, ИНДУЦИРОВАННЫЕ ПЛЮРИПОТЕНТНЫЕ СТВОЛОВЫЕ КЛЕТКИ (ИПСК)

Περιγραφή αρχείου: application/pdf

Relation: Актуальные вопросы современной медицинской науки и здравоохранения: сборник статей IV Международной научно-практической конференции молодых учёных и студентов, IV Всероссийского форума медицинских и фармацевтических вузов «За качественное образование», (Екатеринбург, 10-12 апреля 2019): в 3-х т. - Екатеринбург: УГМУ, CD-ROM.; http://elib.usma.ru/handle/usma/4010

Διαθεσιμότητα: http://elib.usma.ru/handle/usma/4010

Therapeutic efficacy of intra-arterial administration of induced pluripotent stem cells-derived neural progenitor cells in acute experimental ischemic stroke in rats ; Терапевтическая эффективность внутриартериального введения нейральных прогениторных клеток, полученных из индуцированных плюрипотентных стволовых клеток, при остром экспериментальном ишемическом инсульте у крыс

Συγγραφείς: D. D. Namestnikova, I. L. Gubskiy, D. I. Salikhova, G. E. Leonov, K. K. Sukhinich, P. A. Melnikov, D. A. Vishnevskiy, E. A. Cherkashova, A. N. Gabashvili, T. B. Bukharova, V. V. Burunova, T. Kh. Fatkhudinov, V. P. Chekhonin, L. V. Gubsky, S. L. Kiselev, D. V. Goldstein, K. N. Yarygin, Д. Д. Наместникова, И. Л. Губский, Д. И. Салихова, Г. Е. Леонов, К. К. Сухинич, П. А. Мельников, Д. А. Вишневский, Э. А. Черкашова, А. Н. Габашвили, Т. Б. Бухарова, В. В. Бурунова, Т. Х. Фатхудинов, В. П. Чехонин, Л. В. Губский, С. Л. Киселев, Д. В. Гольдштейн, К. Н. Ярыгин

Συνεισφορές: the Ministry of Education and Science of the Russian Federation (project no. №14.604.21.0184 RFMEFI60417X0184), the Program for Basic Research of State Academies of Sciences for 2013–2020, Theme 0518-2018-0005., Министерство образования и науки Российской Федерации (проект №14.604.21.0184 RFMEFI60417X0184), Программа фундаментальных научных исследований государственных академий наук на 2013–2020 г., тема 0518-2018-0005.

Πηγή: Russian Journal of Transplantology and Artificial Organs; Том 21, № 1 (2019); 153-164 ; Вестник трансплантологии и искусственных органов; Том 21, № 1 (2019); 153-164 ; 1995-1191 ; 10.15825/1995-1191-2019-1

Θεματικοί όροι: модель окклюзии средней мозговой артерии, induced pluripotent stem cells, cell therapy, ischemic stroke, middle cerebral artery occlusion model, индуцированные плюрипотентные стволовые клетки, клеточная терапия, ишемический инсульт

Περιγραφή αρχείου: application/pdf

Relation: https://journal.transpl.ru/vtio/article/view/1001/789; Sinden JD, Hicks C, Stroemer P, Vishnubhatla I, Corteling R. Human Neural Stem Cell Therapy for Chronic Ischemic Stroke: Charting Progress from Laboratory to Patients. Stem Cells Dev. 2017; 26 (13): 933–947. doi:10.1089/scd.2017.0009.; Oki K, Tatarishvili J, Wood J, Koch P, Wattananit S, Mine Y et al. Human-induced pluripotent stem cells form functional neurons and improve recovery after grafting in stroke-damaged brain. Stem Cells. 2012; 30 (6): 1120–1133. doi:10.1002/stem.1104.; Polentes J, Jendelova P, Cailleret M, Braun H, Romanyuk N, Tropel P et al. Human induced pluripotent stem cells improve stroke outcome and reduce secondary degeneration in the recipient brain. Cell Transplant. 2012; 21 (12): 2587–2602. doi:10.3727/096368912X653228.; Nekrasov ED, Vigont VA, Klyushnikov SA, Lebedeva OS, Vassina EM, Bogomazova AN et al. Manifestation of Huntington’s disease pathology in human induced pluripotent stem cell-derived neurons. Mol Neurodegener. 2016; 11: 27. doi:10.1186/s13024-016-0092-5.; Koizumi J-i, Yoshida Y, Nakazawa T, Ooneda G. Experimental studies of ischemic brain edema 1. A new experimental model of cerebral embolism in rats in which recirculation can be introduced in the ischemic area. Nosotchu. 1986; 8 (1): 1–8. doi:10.3995/jstroke.8.1.; Longa EZ, Weinstein PR, Carlson S, Cummins R. Reversible middle cerebral artery occlusion without craniectomy in rats. Stroke. 1989; 20 (1): 84–91.; Gubskiy IL, Namestnikova DD, Cherkashova EA, Chekhonin VP, Baklaushev VP, Gubsky LV et al. MRI Guiding of the Middle Cerebral Artery Occlusion in Rats Aimed to Improve Stroke Modeling. Transl Stroke Res. 2018; 9 (4): 417–425. doi:10.1007/s12975-017-0590-y.; Namestnikova D, Gubskiy I, Gabashvili A, Sukhinich K, Melnikov P, Vishnevskiy D et al. MRI evaluation of frequent complications after intra-arterial transplantation of mesenchymal stem cells in rats. Journal of Physics: Conference Series. 2017; 886 (1): 012012.; Boltze J, Kowalski I, Geiger K, Reich D, Gunther A, Buhrle C et al. Experimental treatment of stroke in spontaneously hypertensive rats by CD34+ and CD34– cord blood cells. Ger Med Sci. 2005; 3: Doc09.; Seltmann S, Lekschas F, Muller R, Stachelscheid H, Bittner MS, Zhang W et al. hPSCreg – the human pluripotent stem cell registry. Nucleic Acids Res. 2016; 44 (D1): D757–63. doi:10.1093/nar/gkv963.; Liu J. Induced pluripotent stem cell-derived neural stem cells: new hope for stroke? Stem Cell Res Ther. 2013; 4 (5): 115. doi:10.1186/scrt326.; von Kummer R, Broderick JP, Campbell BC, Demchuk A, Goyal M, Hill MD et al. The Heidelberg Bleeding Classification: Classification of Bleeding Events After Ischemic Stroke and Reperfusion Therapy. Stroke. 2015; 46 (10): 2981–2986. doi:10.1161/STROKEAHA.115.010049.; https://journal.transpl.ru/vtio/article/view/1001

Διαθεσιμότητα: https://journal.transpl.ru/vtio/article/view/1001
https://doi.org/10.15825/1995-1191-2019-1-153-164

Применение технологии индуцированных плюрипотентных стволовых клеток для моделирования синдрома удлиненного интервала QT

Συγγραφείς: А. В. Вялкова, Е. В. Дементьева, С. П. Медведев, Е. А. Покушалов, С. М. Закиян

Πηγή: Патология кровообращения и кардиохирургия, Vol 19, Iss 4-2, Pp 85-94 (2016)

Θεματικοί όροι: Синдром удлиненного интервала QT, Индуцированные плюрипотентные стволовые клетки, Кардиомиоциты, Surgery, RD1-811

Περιγραφή αρχείου: electronic resource

Relation: http://journalmeshalkin.ru/index.php/heartjournal/article/view/289; https://doaj.org/toc/1681-3472; https://doaj.org/toc/2500-3119

Σύνδεσμος πρόσβασης: https://doaj.org/article/53a9f96623d640f68a4635656e88dd6c

Моделирование наследственных кардиомиопатий человека на основе дифференцированных производных индуцированных плюрипотентных стволовых клеток

Συγγραφείς: Д. Р. Байзигитов, С. П. Медведев, Е. В. Дементьева, Е. А. Покушалов, С. М. Закиян

Πηγή: Патология кровообращения и кардиохирургия, Vol 19, Iss 4-2, Pp 95-103 (2016)

Θεματικοί όροι: Индуцированные плюрипотентные стволовые клетки, Кардиомиопатия, Моделирование заболеваний, Surgery, RD1-811

Περιγραφή αρχείου: electronic resource

Relation: http://journalmeshalkin.ru/index.php/heartjournal/article/view/290; https://doaj.org/toc/1681-3472; https://doaj.org/toc/2500-3119

Σύνδεσμος πρόσβασης: https://doaj.org/article/9739f01752e54b45afdc80988984f3bc

The study of the functionality of cardiomyocytes obtained from induced pluripotent stem cells for the modeling of cardiac arrhythmias based on long QT syndrome ; Исследование функциональности получаемых из индуцированных плюрипотентных стволовых клеток кардиомиоцитов для моделирования сердечных аритмий при синдроме удлиненного интервала QT

Συγγραφείς: M. M. Slotvitsky, V. A. Tsvelaya, S. R. Frolova, E. V. Dement’eva, K. I. Agladze, М. М. Слотвицкий, В. А. Цвелая, Ш. Р. Фролова, Е. В. Дементьева, К. И. Агладзе

Πηγή: Vavilov Journal of Genetics and Breeding; Том 22, № 2 (2018); 187-195 ; Вавиловский журнал генетики и селекции; Том 22, № 2 (2018); 187-195 ; 2500-3259

Θεματικοί όροι: синдром удлинения интервала QT (LQTS), patient specificity, induced pluripotent stem cells (iPSC), the long QT interval syndrome (LQTS), пациент-специфичность, индуцированные плюрипотентные стволовые клетки (ИПСК)

Περιγραφή αρχείου: application/pdf

Relation: https://vavilov.elpub.ru/jour/article/view/1440/1048; Burridge P.W., Matsa E., Shukla P., Lin Z.C., Churko J.M., Ebert A.D., Lan F., Diecke S., Huber B., Mordwinkin N.M., Plews J.R., Abilez O.J., Cui B., Gold J.D., Wu J.C. Chemically defined generation of human cardiomyocytes. Nat. Methods. 2014;11(8):855-860.; Campuzano O., Perez-Serra A., Cesar S., Iglesias A., Brugada R. Genetic basis of atrial fibrillation. Genes & Diseases. 2016;3(4):257-262.; El-Sherif N., Turitto G., Boutjdir M., Pilai S., Otte B., Pedalino R. Electrophysiological basis of ECG characteristics of torsades de pointes in long QT syndrome. Card. Electrophysiol. Clin. 2014;6(3);433-444.; Estacion M., Waxman S.G. The response of Na(V)1.3 sodium channels to ramp stimuli: multiple components and mechanisms. J. Neurophysiol. 2013;109(2):306-314.; Fast V.G., Kléber A.G. Role of wavefront curvature in propagation of cardiac impulse. Cardiovasc. Res. 1997;33(2):258-271.; Gintant G., Sager P.T., Stockbridge N. Evolution of strategies to improve preclinical cardiac safety testing. Nat. Rev. Drug Discov. 2016;15(7):457-471.; Grigor’eva E.V., Valetdinova K.R., Ustyantseva E.I., Shevchenko A.I., Medvedev S.P., Mazurok N.A., Maretina M.A., Kuranova M.L., Kiselev A.V., Baranov V.S., Zakian S.M. Neural differentiation of patient-specific induced pluripotent stem cells from patients with a hereditary form of spinal muscle atrophy. Geny i kletki = Genes & Cells. 2016;XI(2):70-81. (in Russian); Horbach S.P., Halffman W. The ghosts of HeLa: How cell line misidentification contaminates the scientific literature. PloS ONE. 2017; 12(10):e0186281.; Hou L., Deo M., Furspan P., Pandit S.V., Mironov S., Auerbach D.S., Gong Q., Zhou Z., Berenfeld O., Jalife J.A. Major role for hERG in determining frequency of reentry in neonatal rat ventricular myocyte monolayer novelty and significance. Circ. Res. 2010;107(12):1503-1511.; Itzhaki I., Maizels L., Huber I., Zwi-Dantsis L., Caspi O., Winterstern A., Feldman O., Gepstein A., Arbel G., Hammerman H., Boulos M., Gepstein L. Modelling the long QT syndrome with induced pluripotent stem cells. Nature. 2011;471(7337):225-229.; Jervell A., Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the QT interval, and sudden death. Am. Heart J. 1957;54(1):59-68.; Kang C., Qiao Y., Li G., Baechle K., Camelliti P., Rentschler S., Efimov I.R. Human organotypic cultured cardiac slices: new platform for high throughput preclinical human trials. Sci. Rep. 2016;6:28798.; Klimanskaya I., Rosenthal N., Lanza R. Derive and conquer: sourcing and differentiating stem cells for therapeutic applications. Nat. Rev. Drug Discov. 2008;7(2):131-142.; Lian X., Zhang J., Azarin S.M., Zhu K., Hazeltine L.B., Bao X., Hsiao C., Kamp T.J., Palecek S.P. Directed cardiomyocyte differentiation from human pluripotent stem cells by modulating Wnt/β-catenin signaling under fully defined conditions. Nat. Protoc. 2013;8(1):162-175.; Lippiat J.D. Whole-cell recording using the perforated patch clamp technique. Potassium Channels: Methods and Protocols. Humana Press, 2009;141-149.; Ma J., Guo L., Fiene S.J., Anson B.D., Thomson J.A., Kamp T.J., Kolaja K.L., Swanson B.J., January C.T. High purity human-induced pluripotent stem cell-derived cardiomyocytes: electrophysiological properties of action potentials and ionic currents. Am. J. Physiol. Heart Circ. Physiol. 2011;301(5):H2006-H2017.; Matsa E., Rajamohan D., Dick E., Young L., Mellor I., Staniforth A., Denning C. Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation. Eur. 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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/1440
https://doi.org/10.18699/VJ18.346

Spontaneous chromosomal instability in cells with a ring chromosome as the basis for chromosomal therapy ; Спонтанная хромосомная нестабильность в клетках с кольцевой хромосомой как основа хромосомной терапии

Συγγραφείς: A. A. Kashevarova, E. O. Belyaeva, A. M. Nikonov, O. V. Plotnikova, I. G. Gergert, T. V. Nikitina, N. A. Skryabin, A. G. Menzorov, M. M. Gridina, S. A. Vasilyev, M. E. Lopatkina, R. R. Savchenko, A. V. Churilova, E. N. Tolmacheva, O. L. Serov, L. P. Nazarenko, I. N. Lebedev, А. А. Кашеварова, Е. О. Беляева, А. М. Никонов, О. В. Плотникова, И. Г. Гергерт, Т. В. Никитина, Н. А. Скрябин, А. Г. Мензоров, М. М. Гридина, С. А. Васильев, М. Е. Лопаткина, Р. Р. Савченко, А. В. Чурилова, Е. Н. Толмачева, О. Л. Серов, Л. П. Назаренко, И. Н. Лебедев

Πηγή: Medical Genetics; Том 16, № 12 (2017); 18-26 ; Медицинская генетика; Том 16, № 12 (2017); 18-26 ; 2073-7998

Θεματικοί όροι: chromosomal therapy, кольцевые хромосомы, индуцированные плюрипотентные стволовые клетки, хромосомная нестабильность, хромосомная терапия, intellectual disability, ring chromosomes, induced pluripotent stem cells, chromosomal instability

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/352/268; Khan MA, Khan S, Windpassinger C et al. The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations. Ann Hum Genet. 2016; 80(6):342-368.; Chiurazzi P, Pirozzi F. Advances in understanding - genetic basis of intellectual disability. 2016; doi:10.12688/f1000research.7134.1.; Kim T, Bershteyn M, Wynshaw-Boris A. Chromosome therapy. Correction of large chromosomal aberrations by inducing ringchromosomes in induced pluripotent stem cells (iPSCs). Nucleus. 2014; 5(5):391-395.; Plona K, Kim T, Halloran K, Wynshaw-Boris A. Chromosome therapy: Potential strategies for the correction of severe chromosome aberrations. Am J Med Genet C Semin Med Genet. 2016; 172(4):422-430.; Протокол aCGH для микрочипов Agilent Technologies - http://www.chem-agilent.com/pdf/G4410-90020v3_1_CGH_ULS_Protocol.pdf; База данных геномных вариантов - http://projects.tcag.ca/variation/?source=hg18; Каталог «Менделевское наследование у человека» - https://www.ncbi.nlm.nih.gov/omim; Takahashi K, Okita K, Nakagawa M, Yamanaka S. Induction of pluripotent stem cells from fibroblast cultures. Nat Protoc. 2007; 2(12):3081-3089.; База данных геномных вариантов и фенотипов - https://decipher.sanger.ac.uk/; Bershteyn M, Hayashi Y, Desachy G et al. Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells. Nature. 2014;507(7490):99-103.; Кашеварова АА, Лебедев ИН. Траектории интерпретации фенотипа и кариотипа через призму взаимодействия врача-генетика и лабораторного генетика. Молекулярно-биологические технологии в медицинской практике / Под ред. чл.-корр. РАЕН А.Б. Масленникова. - Вып. 26. - Новосибирск: Академиздат, 2017; 47-55.; Izykowska K, Przybylski GK, Gand C et al. Genetic rearrangements result in altered gene expression and novel fusion transcripts in Sеzary syndrome. Oncotarget. 2017; 8(24):39627-39639.; Беляева ЕО, Кашеварова АА, Никонов АМ и др. Значимость молекулярного кариотипирования для уточнения диагноза при цитогенетически визуализируемой хромосомной патологии. Медицинская генетика. 2016; 7:17-20.; Rocchi M, Archidiacono N, Carbone R et al. Isolation of a human chromosome 22-specific alpha satellite clone. Cytogenet. Cell Genet. 1991; 58:2050-2051.

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/352