Статті в журналах з теми "Kozak, genome editing, haploinsufficiency"
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Ознайомтеся з топ-23 статей у журналах для дослідження на тему "Kozak, genome editing, haploinsufficiency".
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Li, Hojun, Jiahai Shi, and Harvey F. Lodish. "Genome Editing in Erythroid Progenitor Cells Mediated By Crispr/Cas9." Blood 124, no. 21 (December 6, 2014): 1345. http://dx.doi.org/10.1182/blood.v124.21.1345.1345.
Повний текст джерелаDiakatou, Michalitsa, Gaël Manes, Beatrice Bocquet, Isabelle Meunier, and Vasiliki Kalatzis. "Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa." International Journal of Molecular Sciences 20, no. 10 (May 23, 2019): 2542. http://dx.doi.org/10.3390/ijms20102542.
Повний текст джерелаBailey, Charles, Cynthia Metierre, Yue Feng, Kinsha Baidya, Galina Filippova, Dmitri Loukinov, Victor Lobanenkov, Crystal Semaan, and John Rasko. "CTCF Expression is Essential for Somatic Cell Viability and Protection Against Cancer." International Journal of Molecular Sciences 19, no. 12 (November 30, 2018): 3832. http://dx.doi.org/10.3390/ijms19123832.
Повний текст джерелаShi, Zhong-Dong, Kihyun Lee, Dapeng Yang, Sadaf Amin, Nipun Verma, Qing V. Li, Zengrong Zhu, et al. "Genome Editing in hPSCs Reveals GATA6 Haploinsufficiency and a Genetic Interaction with GATA4 in Human Pancreatic Development." Cell Stem Cell 20, no. 5 (May 2017): 675–88. http://dx.doi.org/10.1016/j.stem.2017.01.001.
Повний текст джерелаMcDermott, David H., Paejonette Jacobs, Qian Liu, Jiliang Gao, and Philip M. Murphy. "CXCR4 Gene Dosage Is Critical for HSC Engraftment." Blood 126, no. 23 (December 3, 2015): 3066. http://dx.doi.org/10.1182/blood.v126.23.3066.3066.
Повний текст джерелаDe Ravin, Suk See, and Julie Brault. "CRISPR/Cas9 applications in gene therapy for primary immunodeficiency diseases." Emerging Topics in Life Sciences 3, no. 3 (May 23, 2019): 277–87. http://dx.doi.org/10.1042/etls20180157.
Повний текст джерелаRoessler, Reinhard, Johanna Goldmann, Chikdu Shivalila, and Rudolf Jaenisch. "JIP2 haploinsufficiency contributes to neurodevelopmental abnormalities in human pluripotent stem cell–derived neural progenitors and cortical neurons." Life Science Alliance 1, no. 4 (June 25, 2018): e201800094. http://dx.doi.org/10.26508/lsa.201800094.
Повний текст джерелаRomano, Robert, Shahnaz Ghahremani, Talia Zimmerman, Nicholas Legere, Ketan Thakar, Feria A. Ladha, Anthony M. Pettinato, and J. Travis Hinson. "Reading Frame Repair of TTN Truncation Variants Restores Titin Quantity and Functions." Circulation 145, no. 3 (January 18, 2022): 194–205. http://dx.doi.org/10.1161/circulationaha.120.049997.
Повний текст джерелаTulli, Susanna, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, et al. "Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation." Journal of Medical Genetics 56, no. 8 (March 25, 2019): 499–511. http://dx.doi.org/10.1136/jmedgenet-2018-105766.
Повний текст джерелаTan, Siyuan, Kai-Hsin Chang, Sarah Smith, Kai Chen, Timonthy Sullivan, Qianhe Zhou, Andreas Reik, et al. "Genome Editing of the Bcl11A Erythroid Specific Enhancer in Bone Marrow Derived Hematopoietic Stem and Progenitor Cells for the Treatment of Sickle Cell Disease." Blood 126, no. 23 (December 3, 2015): 203. http://dx.doi.org/10.1182/blood.v126.23.203.203.
Повний текст джерелаFortschegger, Klaus, Anna-Maria Husa, Dagmar Schinnerl, Karin Nebral, and Sabine Strehl. "Expression of RUNX1-JAK2 in Human Induced Pluripotent Stem Cell-Derived Hematopoietic Cells Activates the JAK-STAT and MYC Pathways." International Journal of Molecular Sciences 22, no. 14 (July 15, 2021): 7576. http://dx.doi.org/10.3390/ijms22147576.
Повний текст джерелаKotini, Andriana, Jeffrey J. Delrow, Timothy A. Graubert, Stephen Nimer, and Eirini P. Papapetrou. "Functional Dissection of Chromosome 7q Loss and Haploinsufficient Gene Discovery Using iPSC Models of MDS." Blood 124, no. 21 (December 6, 2014): 524. http://dx.doi.org/10.1182/blood.v124.21.524.524.
Повний текст джерелаKönig, Saskia, Manfred Fliegauf, Manuel Rhiel, Bodo Grimbacher, Tatjana I. Cornu, Toni Cathomen, and Claudio Mussolino. "Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells." Genes 13, no. 10 (October 20, 2022): 1912. http://dx.doi.org/10.3390/genes13101912.
Повний текст джерелаChang, Kai-Hsin, Timothy Sullivan, Mei Liu, Xiao Yang, Chao Sun, Benjamin Vieira, Ming Zhang, et al. "Clonal Analysis of Human Bone Marrow CD34+ Cells Edited By BCL11A-Targeting Zinc Finger Nucleases Reveals Clinically Relevant Levels of Fetal Globin Expression in Edited Erythroid Progeny." Blood 126, no. 23 (December 3, 2015): 3234. http://dx.doi.org/10.1182/blood.v126.23.3234.3234.
Повний текст джерелаFink, Emma C., Jan Krönke, Slater N. Hurst, Namrata D. Udeshi, Tanya Svinkina, Rebekka K. Schneider, Marie E. McConkey, et al. "Lenalidomide Induces Ubiquitination and Degradation of CSNK1A1 in MDS with Del(5q)." Blood 124, no. 21 (December 6, 2014): 4. http://dx.doi.org/10.1182/blood.v124.21.4.4.
Повний текст джерелаAmazit, Larbi, Mattia Barbot, Isabelle Beau, Jérôme Bouligand, Isabelle Bourdeau, Philippe Chanson, Lucie Cloix, et al. "OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose." Journal of the Endocrine Society 6, Supplement_1 (November 1, 2022): A81. http://dx.doi.org/10.1210/jendso/bvac150.168.
Повний текст джерелаSingh, Ram Kumar, Richard J. Jones, Samuel Hong, Fazal Shirazi, Hua Wang, Isere Kuiatse, Andreas Pahl та Robert Z. Orlowski. "HDP101, a Novel B-Cell Maturation Antigen (BCMA)-Targeted Antibody Conjugated to α-Amanitin, Is Active Against Myeloma with Preferential Efficacy Against Pre-Clinical Models of Deletion 17p". Blood 132, Supplement 1 (29 листопада 2018): 593. http://dx.doi.org/10.1182/blood-2018-99-118412.
Повний текст джерелаSingh, Ram Kumar, Richard J. Jones, Fazal M. Shirazi, Jianxuan M. Zou, Hua Wang, Hans C. Lee, Elisabet E. Manasanch, Isere Kuiatse, Andreas Pahl та Robert Z. Orlowski. "The Anti-B-Cell Maturation Antigen (BCMA) Antibody-α-Amanitin Conjugate Hdp-101 Induces Immunogenic Cell Death and Immunologic Memory in Models of Multiple Myeloma". Blood 136, Supplement 1 (5 листопада 2020): 9–10. http://dx.doi.org/10.1182/blood-2020-141615.
Повний текст джерелаKing, Richard, Ann Friedman, Zesen Lin, and Rami Khoriaty. "Functional Overlap between the SEC23 Paralogs Suggests a Novel Treatment Paradigm for Congenital Dyserythropoietic Anemia Type II." Blood 134, Supplement_1 (November 13, 2019): 2221. http://dx.doi.org/10.1182/blood-2019-129669.
Повний текст джерелаAmbrosini, Chiara, Eliana Destefanis, Eyemen Kheir, Francesca Broso, Federica Alessandrini, Sara Longhi, Nicolò Battisti, et al. "Translational enhancement by base editing of the Kozak sequence rescues haploinsufficiency." Nucleic Acids Research, September 27, 2022. http://dx.doi.org/10.1093/nar/gkac799.
Повний текст джерелаFear, Vanessa S., Catherine A. Forbes, Denise Anderson, Sebastian Rauschert, Genevieve Syn, Nicole Shaw, Sarra Jamieson, Michelle Ward, Gareth Baynam, and Timo Lassmann. "CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency." Stem Cell Research & Therapy 13, no. 1 (February 9, 2022). http://dx.doi.org/10.1186/s13287-022-02740-3.
Повний текст джерелаYe, Tao, Yangyang Duan, Hayley W. S. Tsang, He Xu, Yuewen Chen, Han Cao, Yu Chen, Amy K. Y. Fu, and Nancy Y. Ip. "Efficient manipulation of gene dosage in human iPSCs using CRISPR/Cas9 nickases." Communications Biology 4, no. 1 (February 12, 2021). http://dx.doi.org/10.1038/s42003-021-01722-0.
Повний текст джерелаWarren, Emily B., Juan A. Briano, Jacob Ellegood, Taylor DeYoung, Jason P. Lerch, and Eric M. Morrow. "Mouse Model of 17q12 deletion shows defects in craniofacial, brain and kidney development, and in glucose homeostasis." Disease Models & Mechanisms, November 14, 2022. http://dx.doi.org/10.1242/dmm.049752.
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