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

المساهمون: 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».

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

مصطلحات موضوعية: 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

وصف الملف: application/pdf

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

المؤلفون: Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M. Townes, Steven M. Rowe, David M. Bedwell, Jennifer Guimbellot, Rui Zhao

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Molecular Biology, Evolutionary Biology, Immunology, Plant Biology, Virology, Biological Sciences not elsewhere classified, major unmet need, div >< p, affect approximately 10, promising therapeutic approach, potential therapeutic modality, prime editing machinery, cf patient homozygous, prime editing, therapeutic landscape, w1282x mutation, novel crispr, hdad ), efficiently delivered, effective treatments, dependent adenovirus, cystic fibrosis, cftr <, cf patients

Relation: https://figshare.com/articles/journal_contribution/It_includes_four_supporting_figures_figure_legends_and_a_supporting_table_/24662804

الاتاحة: https://doi.org/10.1371/journal.pone.0295009.s001
https://figshare.com/articles/journal_contribution/It_includes_four_supporting_figures_figure_legends_and_a_supporting_table_/24662804

المؤلفون: Cuevas-Ocaña, Sara, Yang, Jin Ye, Aushev, Magomet, Schlossmacher, George, Bear, Christine E., Hannan, Nicholas R.F., Perkins, Neil D., Rossant, Janet, Wong, Amy P., Gray, Michael A.

المساهمون: Cuevas Ocana, Sara

مصطلحات موضوعية: stem cells, gene editing, TALEN, CRISPR-Cas9, ΔF508, W1282X, cystic fibrosis

Relation: https://nottingham-repository.worktribe.com/output/22176332; International Journal of Molecular Sciences; Volume 24; Issue 12

الاتاحة: https://doi.org/10.3390/ijms241210266
https://nottingham-repository.worktribe.com/file/22176332/1/Cell-Based%20Optimised%20Approach%20for%20Rapid%20and%20Efficient%20Gene%20Editing
https://nottingham-repository.worktribe.com/output/22176332

المؤلفون: Asal Gailan Abdul-Qadir, Bassam Musa Al-Musawi, Rabab Farhan Thejeal, Saad Abdul-Baqi Al-Omar

المصدر: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Cystic fibrosis, CFTR, Mutations, 3120+1G>a, W1282X, F508del, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/3a1f41d98906465baa255aaf1692f001

المؤلفون: Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M. Townes, Steven M. Rowe, David M. Bedwell, Jennifer Guimbellot, Rui Zhao

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Molecular Biology, Evolutionary Biology, Immunology, Plant Biology, Virology, Biological Sciences not elsewhere classified, major unmet need, div >< p, affect approximately 10, promising therapeutic approach, potential therapeutic modality, prime editing machinery, cf patient homozygous, prime editing, therapeutic landscape, w1282x mutation, novel crispr, hdad ), efficiently delivered, effective treatments, dependent adenovirus, cystic fibrosis, cftr <, cf patients

Relation: https://figshare.com/articles/media/W1282X_organoid_FIS_assay_/24662807

الاتاحة: https://doi.org/10.1371/journal.pone.0295009.s002
https://figshare.com/articles/media/W1282X_organoid_FIS_assay_/24662807

المؤلفون: Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M. Townes, Steven M. Rowe, David M. Bedwell, Jennifer Guimbellot, Rui Zhao

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Molecular Biology, Evolutionary Biology, Immunology, Plant Biology, Virology, Biological Sciences not elsewhere classified, major unmet need, div >< p, affect approximately 10, promising therapeutic approach, potential therapeutic modality, prime editing machinery, cf patient homozygous, prime editing, therapeutic landscape, w1282x mutation, novel crispr, hdad ), efficiently delivered, effective treatments, dependent adenovirus, cystic fibrosis, cftr <, cf patients

Relation: https://figshare.com/articles/media/PE_organoid_FIS_assay_/24662810

الاتاحة: https://doi.org/10.1371/journal.pone.0295009.s003
https://figshare.com/articles/media/PE_organoid_FIS_assay_/24662810

المؤلفون: Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M. Townes, Steven M. Rowe, David M. Bedwell, Jennifer Guimbellot, Rui Zhao

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Molecular Biology, Evolutionary Biology, Immunology, Plant Biology, Virology, Biological Sciences not elsewhere classified, major unmet need, div >< p, affect approximately 10, promising therapeutic approach, potential therapeutic modality, prime editing machinery, cf patient homozygous, prime editing, therapeutic landscape, w1282x mutation, novel crispr, hdad ), efficiently delivered, effective treatments, dependent adenovirus, cystic fibrosis, cftr <, cf patients

Relation: https://figshare.com/articles/figure/Prime_editing_restored_CFTR_function_in_PE-iPSC-derived_lung_tissues_/24662822

الاتاحة: https://doi.org/10.1371/journal.pone.0295009.g003
https://figshare.com/articles/figure/Prime_editing_restored_CFTR_function_in_PE-iPSC-derived_lung_tissues_/24662822

المؤلفون: Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M. Townes, Steven M. Rowe, David M. Bedwell, Jennifer Guimbellot, Rui Zhao

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Molecular Biology, Evolutionary Biology, Immunology, Plant Biology, Virology, Biological Sciences not elsewhere classified, major unmet need, div >< p, affect approximately 10, promising therapeutic approach, potential therapeutic modality, prime editing machinery, cf patient homozygous, prime editing, therapeutic landscape, w1282x mutation, novel crispr, hdad ), efficiently delivered, effective treatments, dependent adenovirus, cystic fibrosis, cftr <, cf patients

Relation: https://figshare.com/articles/figure/_i_CFTR_i_W1282X_mutation_is_amenable_to_prime_editing-mediated_gene_correction_/24662813

الاتاحة: https://doi.org/10.1371/journal.pone.0295009.g001
https://figshare.com/articles/figure/_i_CFTR_i_W1282X_mutation_is_amenable_to_prime_editing-mediated_gene_correction_/24662813

المؤلفون: Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M. Townes, Steven M. Rowe, David M. Bedwell, Jennifer Guimbellot, Rui Zhao

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Molecular Biology, Evolutionary Biology, Immunology, Plant Biology, Virology, Biological Sciences not elsewhere classified, major unmet need, div >< p, affect approximately 10, promising therapeutic approach, potential therapeutic modality, prime editing machinery, cf patient homozygous, prime editing, therapeutic landscape, w1282x mutation, novel crispr, hdad ), efficiently delivered, effective treatments, dependent adenovirus, cystic fibrosis, cftr <, cf patients

Relation: https://figshare.com/articles/figure/Differentiation_of_iPSCs_to_airway_epithelial_cells_and_lung_organoids_/24662819

الاتاحة: https://doi.org/10.1371/journal.pone.0295009.g002
https://figshare.com/articles/figure/Differentiation_of_iPSCs_to_airway_epithelial_cells_and_lung_organoids_/24662819

المؤلفون: Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M. Townes, Steven M. Rowe, David M. Bedwell, Jennifer Guimbellot, Rui Zhao

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Molecular Biology, Evolutionary Biology, Immunology, Plant Biology, Virology, Biological Sciences not elsewhere classified, major unmet need, div >< p, affect approximately 10, promising therapeutic approach, potential therapeutic modality, prime editing machinery, cf patient homozygous, prime editing, therapeutic landscape, w1282x mutation, novel crispr, hdad ), efficiently delivered, effective treatments, dependent adenovirus, cystic fibrosis, cftr <, cf patients

Relation: https://figshare.com/articles/figure/Prime_editing_corrects_the_W1282X_mutation_in_differentiated_airway_epithelial_cells_/24662828

الاتاحة: https://doi.org/10.1371/journal.pone.0295009.g004
https://figshare.com/articles/figure/Prime_editing_corrects_the_W1282X_mutation_in_differentiated_airway_epithelial_cells_/24662828

المؤلفون: Saad Abdul-Baqi Al-Omar, Bassam M. S. Al-Musawi, Asal Gailan Abdul-Qadir, Rabab Farhan Thejeal

المصدر: The Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Medicine (General), Disease, QH426-470, medicine.disease_cause, Gastroenterology, Cystic fibrosis, 03 medical and health sciences, 0302 clinical medicine, R5-920, Internal medicine, medicine, Genetics, 030212 general & internal medicine, CFTR, Gene, Genotyping, Genetics (clinical), Mutation, biology, business.industry, Incidence (epidemiology), Research, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Molecular analysis, 030104 developmental biology, Iraq, biology.protein, W1282X, 3120+1G>a, business, F508del, Mutations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af3c348002b4bd715c40c4b3d8c9590
http://europepmc.org/articles/PMC8110311

المؤلفون: Mention, Karen

المساهمون: Harrison, Patrick, Scallan, Martina

مصطلحات موضوعية: Base editing, W1282X mutation, Superexon, Gene editing, Cystic fibrosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1535::413e2e6f780b7bc93c820e50f664691d
https://hdl.handle.net/10468/10866

المؤلفون: Gentzsch, Martina, Ren, Hong Y., Houck, Scott A., Quinney, Nancy L., Cholon, Deborah M., Sopha, Pattarawut, Chaudhry, Imron G., Das, Jhuma, Dokholyan, Nikolay V., Randell, Scott H., Cyr, Douglas M.

المصدر: American Journal of Physiology - Lung Cellular and Molecular Physiology, 311(3)

مصطلحات موضوعية: Aminophenols, Sequence Deletion, cystic fibrosis, Quinolones, Cystic Fibrosis Transmembrane Conductance Regulator, W1282X, Aminopyridines, Orkambi, Drug Evaluation, Preclinical, Benzodioxoles, VX-770, Cell Line, heterozygote, Humans, Mutation, Missense, Protein Folding, rare mutation, R117H, VX-809

Relation: https://cdr.lib.unc.edu/downloads/9k41zk13f?file=thumbnail; https://cdr.lib.unc.edu/downloads/9k41zk13f

الاتاحة: https://doi.org/10.17615/pgag-s631
https://cdr.lib.unc.edu/downloads/9k41zk13f?file=thumbnail
https://cdr.lib.unc.edu/downloads/9k41zk13f

المؤلفون: STEFANI, ROBERTA

المساهمون: DE BERNARD, MARINA

مصطلحات موضوعية: Fibrosi cistica, CFTR, W1282X, CRISPR/Cas9, CRISPR/Cas12a

Relation: Dipartimento di Biologia - DiBio; BIOLOGIA MOLECOLARE Laurea di Primo Livello (D.M. 270/2004); 2020; http://hdl.handle.net/20.500.12608/6944

الاتاحة: https://hdl.handle.net/20.500.12608/6944

المؤلفون: Atalar Aksit, Melis

المساهمون: Beaty, Terri H, Cutting, Garry R, Blackman, Scott M, Goff, Loyal A, Arking, Dan E

مصطلحات موضوعية: Cystic fibrosis, Cystic fibrosis-related diabetes, polygenic risk scores, W1282X

وصف الملف: application/pdf

Relation: http://jhir.library.jhu.edu/handle/1774.2/62513

الاتاحة: http://jhir.library.jhu.edu/handle/1774.2/62513