U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from GEO Profiles

Items: 1 to 20 of 77

1.
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre
Betul Karaatmaca, Deniz Cagdas, Saliha Esenboga, Baran Erman, Cagman Tan, Tuba Turul Ozgur, Kaan Boztug, Mirjam van der Burg, Ozden Sanal, Ilhan Tezcan
Clin Exp Immunol. 2024 Feb; 215(2): 160–176. Published online 2024 Feb 3. doi: 10.1093/cei/uxad110
PMCID:
PMC10847812
AbstractArticlePDF–873K
2.
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT
C. Schuetz, J. Gerke, M. Ege, J. Walter, M. Kusters, A. Worth, J. A. Kanakry, D. Dimitrova, B. Wolska-Kuśnierz, K. Chen, E. Unal, M. Karakukcu, O. Pashchenko, J. Leiding, T. Kawai, P. J. Amrolia, D. Berghuis, J. Buechner, D. Buchbinder, M. J. Cowan, A. R. Gennery, T. Güngör, J. Heimall, M. Miano, I. Meyts, E. C. Morris, J. Rivière, S. O. Sharapova, P. J. Shaw, M. Slatter, M. Honig, P. Veys, A. Fischer, M. Cavazzana, D. Moshous, A. Schulz, M. H. Albert, J. M. Puck, A. C. Lankester, L. D. Notarangelo, B. Neven, Inborn Errors Working Party (IEWP) of the European Society for Immunodeficiencies (ESID) and European Society for Blood and Marrow Transplantation (EBMT) and the Primary Immune Deficiency Treatment Consortium (PIDTC)
Blood. 2023 Feb 16; 141(7): 713–724. Published online 2022 Oct 27. doi: 10.1182/blood.2022017667
PMCID:
PMC10082356
AbstractArticle
3.
First Report of FARSA in the Regulation of Cell Cycle and Survival in Mantle Cell Lymphoma Cells via PI3K-AKT and FOXO1-RAG1 Axes
Min Feng, Kun Yang, Jia Wang, Guilan Li, Han Zhang
Int J Mol Sci. 2023 Jan; 24(2): 1608. Published online 2023 Jan 13. doi: 10.3390/ijms24021608
PMCID:
PMC9865697
AbstractArticlePDF–3.2M
4.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells
Krisztian Csomos, Boglarka Ujhazi, Peter Blazso, Jose L. Herrera, Christopher M. Tipton, Tomoki Kawai, Sumai Gordon, Maryssa Ellison, Kevin Wu, Matthew Stowell, Lauren Haynes, Rachel Cruz, Bence Zakota, Johnny Nguyen, Michelle Altrich, Christoph B. Geier, Svetlana Sharapova, Joseph F. Dasso, Jennifer W. Leiding, Grace Smith, Waleed Al-Herz, Mayra de Barros Dorna, Olajumoke Fadugba, Eva Fronkova, Veronika Kanderova, Michael Svaton, Sarah E. Henrickson, Joseph D. Hernandez, Taco Kuijpers, Snezhina Mihailova Kandilarova, Elizaveta Naumova, Tomas Milota, Anna Sediva, Despina Moshous, Benedicte Neven, Tara Saco, Ravishankar Sargur, Sinisa Savic, John Sleasman, Gauri Sunkersett, Brant R. Ward, Masanobu Komatsu, Stefania Pittaluga, Attila Kumanovics, Manish J. Butte, Michael P. Cancro, Shiv Pillai, Eric Meffre, Luigi D. Notarangelo, Jolan E. Walter
Nat Immunol. 2022; 23(8): 1256–1272. Published online 2022 Jul 28. doi: 10.1038/s41590-022-01271-6
PMCID:
PMC9355881
AbstractArticlePDF–17M
5.
RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination
Tingting Gan, Yuhong Wang, Yang Liu, David G. Schatz, Jiazhi Hu
Cell Rep. Author manuscript; available in PMC 2022 Oct 12.
Published in final edited form as: Cell Rep. 2021 Oct 12; 37(2): 109824. doi: 10.1016/j.celrep.2021.109824
PMCID:
PMC8783374
AbstractArticlePDF–1.5M
6.
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations
Saul Oswaldo Lugo-Reyes, Nina Pastor, Edith González-Serrano, Marco Antonio Yamazaki-Nakashimada, Selma Scheffler-Mendoza, Laura Berron-Ruiz, Guillermo Wakida, Maria Enriqueta Nuñez-Nuñez, Ana Paola Macias-Robles, Aide Tamara Staines-Boone, Edna Venegas-Montoya, Carmen Alaez-Verson, Carolina Molina-Garay, Luis Leonardo Flores-Lagunes, Karol Carrillo-Sanchez, Julie Niemela, Sergio D. Rosenzweig, Paul Gaytan, Jorge A. Yañez, Ivan Martinez-Duncker, Luigi D. Notarangelo, Sara Espinosa-Padilla, Mario Ernesto Cruz-Munoz
J Clin Immunol. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: J Clin Immunol. 2021 Aug; 41(6): 1291–1302. Published online 2021 May 5. doi: 10.1007/s10875-021-01052-0
Correction in:
J Clin Immunol. 2021 Jun 16
PMCID:
PMC8319791
AbstractArticlePDF–1.4M
7.
RAG1 co‐expression signature identifies ETV6‐RUNX1‐like B‐cell precursor acute lymphoblastic leukemia in children
Dongfeng Chen, Alessandro Camponeschi, Jessica Nordlund, Yanara Marincevic‐Zuniga, Jonas Abrahamsson, Gudmar Lönnerholm, Linda Fogelstrand, Inga‐Lill Mårtensson
Cancer Med. 2021 Jun; 10(12): 3997–4003. Published online 2021 May 13. doi: 10.1002/cam4.3928
PMCID:
PMC8209579
AbstractArticlePDF–1.1M
8.
The Interplay Between Chromatin Architecture and Lineage-Specific Transcription Factors and the Regulation of Rag Gene Expression
Kazuko Miyazaki, Masaki Miyazaki
Front Immunol. 2021; 12: 659761. Published online 2021 Mar 16. doi: 10.3389/fimmu.2021.659761
PMCID:
PMC8007930
AbstractArticlePDF–1.4M
9.
Co-evolution of mutagenic genome editors and vertebrate adaptive immunity
Inês Trancoso, Ryo Morimoto, Thomas Boehm
Curr Opin Immunol. 2020 Aug; 65: 32–41. doi: 10.1016/j.coi.2020.03.001
PMCID:
PMC7768089
AbstractArticle
10.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Milota, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Tadej Avčin, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Front Immunol. 2020; 11: 900. Published online 2020 Jun 10. doi: 10.3389/fimmu.2020.00900
PMCID:
PMC7325958
AbstractArticlePDF–1.3M
11.
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
Hanna IJspeert, Gertjan J. Driessen, Michael J. Moorhouse, Nico G. Hartwig, Beata Wolska-Kusnierz, Krzysztof Kalwak, Anna Pituch-Noworolska, Irina Kondratenko, Joris M. van Montfrans, Ester Mejstrikova, Arjan C. Lankester, Anton W. Langerak, Dik C. van Gent, Andrew P. Stubbs, Jacques J.M. van Dongen, Mirjam van der Burg
J Allergy Clin Immunol. 2014 Apr; 133(4): 1124–1133.e1. Published online 2014 Jan 11. doi: 10.1016/j.jaci.2013.11.028
PMCID:
PMC7112318
AbstractArticlePDF–1.8M
12.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
13.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
14.
Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development
L. M. Ott de Bruin, M. Bosticardo, A. Barbieri, S. G. Lin, J. H. Rowe, P. L. Poliani, K. Ching, D. Eriksson, N. Landegren, O. Kämpe, J. P. Manis, L. D. Notarangelo
Blood. 2018 Jul 19; 132(3): 281–292. Prepublished online 2018 May 9. doi: 10.1182/blood-2017-12-820985
PMCID:
PMC6053949
AbstractArticle
15.
Human RAG mutations: biochemistry and clinical implications
Luigi D. Notarangelo, Min-Sung Kim, Jolan E. Walter, Yu Nee Lee
Nat Rev Immunol. Author manuscript; available in PMC 2018 Jan 8.
Published in final edited form as: Nat Rev Immunol. 2016 Apr; 16(4): 234–246. Published online 2016 Mar 21. doi: 10.1038/nri.2016.28
PMCID:
PMC5757527
AbstractArticlePDF–1.0M
16.
Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations
Anna Szaflarska, Magdalena Rutkowska-Zapała, Monika Kotula, Anna Gruca, Agnieszka Grabowska, Marzena Lenart, Marta Surman, Elżbieta Trzyna, Anna Mordel, Anna Pituch-Noworolska, Maciej Siedlar
Arch Immunol Ther Exp (Warsz) 2016; 64(Suppl 1): 177–183. Published online 2017 Jan 12. doi: 10.1007/s00005-016-0447-1
PMCID:
PMC5334423
AbstractArticlePDF–671K
17.
Estimated disease incidence of RAG1/2 mutations: a case report and querying the Exome Aggregation Consortium
Attila Kumánovics, Yu Nee Lee, Devin W. Close, Emily M. Coonrod, Boglarka Ujhazi, Karin Chen, Daniel MacArthur, Gergely Krivan, Luigi D. Notarangelo, Jolan E. Walter
J Allergy Clin Immunol. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: J Allergy Clin Immunol. 2017 Feb; 139(2): 690–692.e3. Published online 2016 Sep 5. doi: 10.1016/j.jaci.2016.07.027
PMCID:
PMC5303162
AbstractArticlePDF–327K
18.
Illegitimate RAG‐mediated recombination events are involved in IKZF1 Δ3–6 deletion in BCR‐ABL1 lymphoblastic leukaemia
Y. Dong, F. Liu, C. Wu, S. Li, X. Zhao, P. Zhang, J. Jiao, X. Yu, Y. Ji, M. Zhang
Clin Exp Immunol. 2016 Sep; 185(3): 320–331. Published online 2016 Jul 28. doi: 10.1111/cei.12812
PMCID:
PMC4991516
AbstractArticlePDF–859K
19.
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies
Patrick M. Brauer, Itai M. Pessach, Erik Clarke, Jared H. Rowe, Lisa Ott de Bruin, Yu Nee Lee, Carmen Dominguez-Brauer, Anne M. Comeau, Geneve Awong, Kerstin Felgentreff, Yuhang H. Zhang, Andrea Bredemeyer, Waleed Al-Herz, Likun Du, Francesca Ververs, Marion Kennedy, Silvia Giliani, Gordon Keller, Barry P. Sleckman, David G. Schatz, Frederic D. Bushman, Luigi D. Notarangelo, Juan Carlos Zúñiga-Pflücker
Blood. 2016 Aug 11; 128(6): 783–793. Prepublished online 2016 Jun 14. doi: 10.1182/blood-2015-10-676304
PMCID:
PMC4982452
AbstractArticle
20.
Establishment of a Wheat Cell-Free Synthesized Protein Array Containing 250 Human and Mouse E3 Ubiquitin Ligases to Identify Novel Interaction between E3 Ligases and Substrate Proteins
Hirotaka Takahashi, Atsushi Uematsu, Satoshi Yamanaka, Mei Imamura, Tatsuro Nakajima, Kousuke Doi, Saki Yasuoka, Chikako Takahashi, Hiroyuki Takeda, Tatsuya Sawasaki
PLoS One. 2016; 11(6): e0156718. Published online 2016 Jun 1. doi: 10.1371/journal.pone.0156718
PMCID:
PMC4889105
AbstractArticlePDF–3.3M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center