المؤلفون: Qiang Zhang, Yusi Liu, Xuan Liu, Yue Zhao, Jihong Zhang

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: C-terminal binding protein 1 (CTBP1), HADDTS, de novo variant, whole-exome sequencing, clinical heterogeneity, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1344682/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/f02ab189708f4ca2b7023a36f7544905Test

المؤلفون: Lin, Chun Pu, Levy, Pierre L., Alflen, Astrid, Apriamashvili, Georgi, Ligtenberg, Maarten A., Vredevoogd, David W., Bleijerveld, Onno B., Alkan, Ferhat, Malka, Yuval, Hoekman, Liesbeth, Markovits, Ettai, George, Austin, Traets, Joleen J.H., Krijgsman, Oscar, van Vliet, Alex, Poźniak, Joanna, Pulido-Vicuña, Carlos Ariel, de Bruijn, Beaunelle, van Hal-van Veen, Susan E., Boshuizen, Julia, van der Helm, Pim W., Díaz-Gómez, Judit, Warda, Hamdy, Behrens, Leonie M., Mardesic, Paula, Dehni, Bilal, Visser, Nils L., Marine, Jean Christophe, Markel, Gal, Faller, William J., Altelaar, Maarten, Agami, Reuven, Besser, Michal J., Peeper, Daniel S.

المساهمون: Sub Biomol.Mass Spect. and Proteomics, Afd Biomol.Mass Spect. and Proteomics, Biomolecular Mass Spectrometry and Proteomics

مصطلحات موضوعية: activation-induced cell death, cancer immunotherapy, CRISPR-Cas9 screen, Ctbp1, Dap5, dysfunction, effector function, exhaustion, Icam1, T cells, Oncology, Cancer Research

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/438097Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/438097Test

المؤلفون: P. L. Sokolov, N. V. Chebanenko, Yu. A. Fedotova, D. M. Mednaya, П. Л. Соколов, Н. В. Чебаненко, Ю. А. Федотова, Д. М. Медная

المصدر: Russian Journal of Child Neurology; Том 19, № 1 (2024); 48‑53 ; Русский журнал детской неврологии; Том 19, № 1 (2024); 48‑53 ; 2412-9178 ; 2073-8803

مصطلحات موضوعية: LETM1, cerebral palsy, Wolf–Hirshhorn syndrome, deletion of chromosome 4p, PIGG, CPLX1, CTBP1, церебральный паралич, синдром Вольфа–Хиршхорна, делеция хромосомы 4p

وصف الملف: application/pdf

العلاقة: https://rjdn.abvpress.ru/jour/article/view/460/315Test; Бобылова М.Ю., Мухин К.Ю., Кузьмич Г.В. и др. Эпилепсия при синдроме Ангельмана. Журнал неврологии и психиатрии им. С.С. Корсакова 2022;122(7):100–5. DOI:10.17116/jnevro2022122071100; Косинова Е.И., Зубцова Т.И., Полшведкина О.Б., Колесникова Ю.Г. Синдром Вольфа–Хиршхорна: обзор трех клинических случаев. Медицинская генетика 2023;22(1):36–42. DOI:10.25557/2073-7998.2023.01.36-42; Миронов М.Б., Чебаненко Н.В., Айвазян С.О. и др. Эпилепсия при синдроме Вольфа–Хиршхорна: обзор литературы и описание клинических случаев. Эпилепсия и пароксизмальные состояния 2018;10(4):39–52. DOI:10.17749/2077-8333.2018.10.4.039-052; Соколов П.Л., Чебаненко Н.В., Притыко А.Г., Романов П.А. Генетическая гетерогенность врожденных церебральных параличей и концепция нейротропного генома. Русский журнал детской неврологии 2022;17(4):8–23. DOI:10.17650/2073-8803-2022-17-4-8-23; Сыркина А.В., Чебаненко Н.В., Зыков В.П., Михайлова Н.С. Синдром Якобсена: обзор литературы и клиническое наблюдение. Русский журнал детской неврологии 2022;17(2):55–60.; Чебаненко Н.В., Соколов П.Л., Притыко А.Г. Врожденные церебральные параличи, сопровождающиеся эпилепсией: клинико-генетические сопоставления. Русский журнал детской неврологии 2022;17(3):43–54.; Юрченко Д.А., Миньженкова М.Е., Маркова Ж.Г. и др. Гетерогенность механизмов формирования хромосомного дисбаланса при синдроме Вольфа–Хиршхорна. Медицинская генетика 2022;21(11):59–61.; Balabhadra A., Parekh M., Patil A., Jayalakshmi S. A case of drugresistant epilepsy associated with ring chromosome 20. Ann Indian Acad Neurol 2021;24(5):805–7. DOI:10.4103/aian.AIAN_1292_20; Briand-Suleau A., Martinovic J., Tosca L. et al. SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication. Eur J Med Genet 2014;57(4):174–80. DOI:10.1016/j.ejmg.2013.12.013; Corrêa T., Mayndra M., Santos-Rebouças C.B. Distinct epileptogenic mechanisms associated with seizures in Wolf–Hirschhorn syndrome. Mol Neurobiol 2022;59(5):3159–69. DOI:10.1007/s12035-022-02792-9; Duval R., Nicolas G., Willemetz A. et al. Inherited glycosylphosphatidylinositol defects cause the rare Emmnegative blood phenotype and developmental disorders. Blood 2021;137(26):3660–9. DOI:10.1182/blood.2020009810; Gavril E.C., Luca A.C., Curpan A.S. et al. Wolf–Hirschhorn syndrome: Clinical and genetic study of 7 new cases, and mini review. Children (Basel) 2021;8(9):751. DOI:10.3390/children8090751; Giardino D., Vignoli A., Ballarati L. et al. Genetic investigations on 8 patients affected by ring 20 chromosome syndrome. BMC Med Genet 2010;11:146. DOI:10.1186/1471-2350-11-146; Goetzinger L., Starks R.D., Dillahunt K. et al. Interstitial duplication of 20q11.22q13.11: A case report and review of literature. Mol Genet Genomic Med 2021;9(8):e1755. DOI:10.1002/mgg3.1755; Gomes Mda M., Lucca I., Bezerra S.A. et al. 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الإتاحة: https://doi.org/10.17650/2073-8803-2024-19-1-48-53Test
https://doi.org/10.17116/jnevro2022122071100Test
https://doi.org/10.25557/2073-7998.2023.01.36-42Test
https://doi.org/10.17749/2077-8333.2018.10.4.039-052Test
https://doi.org/10.17650/2073-8803-2022-17-4-8-23Test
https://doi.org/10.4103/aian.AIAN_1292_20Test
https://doi.org/10.1016/j.ejmg.2013.12.013Test
https://doi.org/10.1007/s12035-022-02792-9Test
https://doi.org/10.1182/blood.2020009810Test
https://doi.org/10.3390/children8090751Test

المؤلفون: Yun Hwan Lim, Yoon Jin Park, Jieun Lee, Jung Hwa Kim

المصدر: Animal Cells and Systems, Vol 28, Iss 1, Pp 66-74 (2024)

مصطلحات موضوعية: CtBP1, transcriptional corepressor, ISG15, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1976-8354Test; https://doaj.org/toc/2151-2485Test

الوصول الحر: https://doaj.org/article/5d70bb48bd6846dfaea6edc2bd4cc9c1Test

المؤلفون: Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 546-554 (2022)

مصطلحات موضوعية: CTBP1, neurodevelopmental disorder, secondary mitochondrial dysfunction, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/df0e1594280e47c0a558ea4c173944ecTest

المؤلفون: Javed Akhtar, Muhammad Imran, Guanyu Wang

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 18, p 14030 (2023)

مصطلحات موضوعية: esophageal squamous cell carcinoma (ESCC), paclitaxel resistance, C-Terminal Binding Protein 1 (CtBP1), CRISPR/Cas9 genome editing, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/18/14030Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/1397a47eeff044a89005eac5628bf071Test

المؤلفون: Xun Chen, Qian Zhang, Xiaoqian Dang, Jinzhu Fan, Tao Song, Zhong Li, Ning Duan, Wentao Zhang

المصدر: Translational Oncology, Vol 21, Iss , Pp 101429- (2022)

مصطلحات موضوعية: CtIP, CtBP1, CtBP2, AP1, DNA damage, Osteosarcoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1936523322000882Test; https://doaj.org/toc/1936-5233Test

الوصول الحر: https://doaj.org/article/90481252d4454bc0a75b3a36b9cacdddTest

المؤلفون: Xiuying Liang, Jingwen Sun, Haijing Guan, Qingyu Zhu, Wenjuan Yao

المصدر: Biomedicines, Vol 10, Iss 12, p 3131 (2022)

مصطلحات موضوعية: adipogenesis, CtBP1, angiotensin II, mitochondria, ROS, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9059/10/12/3131Test; https://doaj.org/toc/2227-9059Test

الوصول الحر: https://doaj.org/article/b26289b839654b4faa5b83260219ba03Test

المؤلفون: Gökçe Yıldırım Buharalıoğlu

المصدر: Dicle Medical Journal, Vol 49, Iss 1, Pp 220-228 (2022)

مصطلحات موضوعية: ctbp1, nf2, prostat kanseri, epigenetik, kdm6a/b, Medicine, Medicine (General), R5-920

العلاقة: http://diclemedj.org/upload/sayi/86/Dicle%20Med%20J-04867.pdfTest; https://doaj.org/toc/1300-2945Test; https://doaj.org/toc/1308-9889Test; https://doaj.org/article/d4b0b27bbcac4b6ca4adc49c3a885f66Test

الإتاحة: https://doi.org/10.5798/dicletip.1086401Test
https://doaj.org/article/d4b0b27bbcac4b6ca4adc49c3a885f66Test

المؤلفون: Yingkuan Liang, Qixing Mao, Lin Wang, Wenjie Xia, Bing Chen, Hui Wang, Rutao Li, Lin Xu, Feng Jiang, Gaochao Dong

المصدر: Clinical and Translational Medicine, Vol 11, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: circIMMP2L, circRNA, ESCC, CtBP1, HDAC1, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2001-1326Test

الوصول الحر: https://doaj.org/article/b69c7cc996564f908c69951c0705cc03Test