Literatura científica selecionada sobre o tema "Somatic genetic rescue"
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Artigos de revistas sobre o assunto "Somatic genetic rescue"
Revy, Patrick, Caroline Kannengiesser e Alain Fischer. "Somatic genetic rescue in Mendelian haematopoietic diseases". Nature Reviews Genetics 20, n.º 10 (11 de junho de 2019): 582–98. http://dx.doi.org/10.1038/s41576-019-0139-x.
Texto completo da fonteAhmed, Arooj, Luca Guarnera, Jaymeson Gordon, Carlos Bravo-Perez, Arda Durmaz, Yasuo Kubota, Naomi Kawashima et al. "Maladaptive Somatic Rescue in FLT3 Mutations of Suspected Germline Nature". Blood 142, Supplement 1 (28 de novembro de 2023): 5666. http://dx.doi.org/10.1182/blood-2023-190837.
Texto completo da fonteCatto, Luiz Fernando B., Gustavo Borges, André L. Pinto, Diego V. Clé, Fernando Chahud, Barbara A. Santana, Flavia S. Donaires e Rodrigo T. Calado. "Somatic genetic rescue in hematopoietic cells in GATA2 deficiency". Blood 136, n.º 8 (20 de agosto de 2020): 1002–5. http://dx.doi.org/10.1182/blood.2020005538.
Texto completo da fonteOrland, Mark, Arda Durmaz, Carlos Bravo-Perez, Carmelo Gurnari, Luca Guarnera, Matteo D'Addona, Aashray Mandala et al. "Elucidating the Somatic Genetic Rescue Underlying Del(20q) Myeloid Neoplasms". Blood 144, Supplement 1 (5 de novembro de 2024): 4573. https://doi.org/10.1182/blood-2024-208520.
Texto completo da fonteStarich, Todd, e David Greenstein. "A Limited and Diverse Set of Suppressor Mutations Restore Function to INX-8 Mutant Hemichannels in the Caenorhabditis elegans Somatic Gonad". Biomolecules 10, n.º 12 (10 de dezembro de 2020): 1655. http://dx.doi.org/10.3390/biom10121655.
Texto completo da fonteNavrátilová, B., D. Skálová, V. Ondřej, M. Kitner e A. Lebeda. "Biotechnological methods utilized in Cucumis research – A review". Horticultural Science 38, No. 4 (15 de novembro de 2011): 150–58. http://dx.doi.org/10.17221/143/2010-hortsci.
Texto completo da fonteGray, N., M. Boals, S. Lewis, M. Yoshida, S. Sahoo e M. Wlodarski. "SIGNATURES OF SOMATIC GENETIC RESCUE IN SAMD9/9L SYNDROMES: DIAGNOSTIC AND PROGNOSTIC UTILITY". Leukemia Research Reports 21 (2024): 100432. http://dx.doi.org/10.1016/j.lrr.2024.100432.
Texto completo da fonteVenugopal, Parvathy, Peer Arts, Lucy C. Fox, Annet Simons, Devendra K. Hiwase, Peter G. Bardy, Annette Swift et al. "Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion". Blood Advances 8, n.º 13 (9 de julho de 2024): 3437–43. http://dx.doi.org/10.1182/bloodadvances.2023012331.
Texto completo da fonteXu, Xia, Jiang Lu e O. Lamikanra. "Somatic Embryogenesis in Muscadine Grape". HortScience 30, n.º 4 (julho de 1995): 876G—877. http://dx.doi.org/10.21273/hortsci.30.4.876g.
Texto completo da fonteXu, Xia, Jiang Lu e O. Lamikanra. "Somatic Embryogenesis in Muscadine Grape". HortScience 30, n.º 4 (julho de 1995): 876G—877. http://dx.doi.org/10.21273/hortsci.30.4.876.
Texto completo da fonteTeses / dissertações sobre o assunto "Somatic genetic rescue"
Bertrand, Alexis. "Caractérisation fonctionnelle de mutations somatiques compensatrices d'elF6 dans le contexte du syndrome de Shwachman- Diamond". Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL089.
Texto completo da fonteShwachman Diamond syndrome (SDS) is a rare genetic ribosomopathy leading to impaired protein synthesis, which causes numerous symptoms including bone marrow failure and neutropenia that can evolve to myelodysplasia syndrome or acute myeloid leukaemia. Biallelic mutations in the SBDS gene are responsible of above 90% of the SDS cases and we recently identified biallelic EFL1 mutations as a novel cause of SDS. SBDS together with EFL1 remove the anti-association factor elF6 from the pre60S ribosomal subunit, allowing its interaction with the 40S subunit to form the mature ribosome 80S. Natural acquisition of somatic genetic events over time participâtes to age-related diseases and cancer development. However, in Mendelian diseases these events can, in rare case, counteract the deleterious effect of the germline mutation and provide a sélective advantage to the somatically modified cells, a phenomenon dubbed Somatic Genetic Rescue (SGR). We recently showed that several somatic genetic events affecting the expression or function of elF6 are frequently detected in blood clones from SDS patients but not in healthy individuals, suggesting a mechanism of SGR. While most of these somatic mutations induce elF6 destabilization or EIF6 haploinsufficiency, one récurrent mutation (N106S) did not affect the expression of elF6 but rather impact its ability to interact with the 60S subunit. In order to further investigate the functional conséquences of ElF6 haploinsufficiency and N106S mutation in a context of SDS, I introduced via CRISPR/Cas9 these mutations in immortalized fibroblastic cell line from SDS patients and control. These original cellular models hâve made it possible to détermine the impact of the N106S mutation on the localisation and function of elF6 and also to clarify the effects of these mutations on several aspects of cellular fitness, in particular ribosome biogenesis, translation rate and cell prolifération. Overall, the development of these cellular models has helped to characterise how the somatic N106S mutation and elF6 haploinsufficiency confer a sélective advantage in cells déficient in SBDS or EFL1
Capítulos de livros sobre o assunto "Somatic genetic rescue"
Kumari, Shivani, Archana Yadav, Akhilesh Kushwaha e Atul Kumar Singh. "ROLE OF BIOTECHNOLOGY IN PAPAYA (CARICA PAPAYA)". In Futuristic Trends in Biotechnology Volume 3 Book 22, 108–17. Iterative International Publishers, Selfypage Developers Pvt Ltd, 2024. http://dx.doi.org/10.58532/v3bkbt22p3ch3.
Texto completo da fonteCampbell, Robert Jean. "K". In Campbell’s Psychiatric Dictionary, 536–42. Oxford University PressNew York, NY, 2009. http://dx.doi.org/10.1093/oso/9780195341591.003.0011.
Texto completo da fonteCandotti, Fabio, e Alain Fischer. "Gene Therapy". In Primary Immunodeficiency Diseases, 688–706. Oxford University PressNew York, NY, 2006. http://dx.doi.org/10.1093/oso/9780195147742.003.0048.
Texto completo da fonte