PMC Links for GEO Profiles (Select 835037) - PMC

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

Abstract Article PDF–873K

Select item 100823564.

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

Abstract Article

Select item 96694065.

Rag2^−/− accelerates lipofuscin accumulation in the brain: Implications for human stem cell brain transplantation studies

Mengmeng Jin, Mahabub Maraj Alam, Alice Y.-C. Liu, Peng Jiang

Stem Cell Reports. 2022 Nov 8; 17(11): 2381–2391. Published online 2022 Oct 20. doi: 10.1016/j.stemcr.2022.09.012

Correction in:: Stem Cell Reports. 2023 Jan 10; 18(1): 413–415.

PMCID:: PMC9669406

Abstract Article PDF–5.0M

Select item 93558816.

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

Abstract Article PDF–17M

Select item 87833747.

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

Abstract Article PDF–1.5M

Select item 84988968.

Survival‐Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah^–/–Rag2^–/–IL2rg^–/– Rats

Ludi Zhang, Jian‐Yun Ge, Yun‐Wen Zheng, Zhen Sun, Chenhua Wang, Zhaoliang Peng, Baihua Wu, Mei Fang, Kinji Furuya, Xiaolong Ma, Yanjiao Shao, Nobuhiro Ohkohchi, Tatsuya Oda, Jianglin Fan, Guoyu Pan, Dali Li, Lijian Hui

Adv Sci (Weinh) 2021 Oct; 8(19): 2101188. Published online 2021 Aug 11. doi: 10.1002/advs.202101188

PMCID:: PMC8498896

Abstract Article PDF–16M

Select item 83197919.

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

Abstract Article PDF–1.4M

Select item 816503010.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 800793011.

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

Abstract Article PDF–1.4M

Select item 776808912.

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

Abstract Article

Select item 732595813.

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

Abstract Article PDF–1.3M

Select item 629534914.

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

Irit Tirosh, Yasuhiro Yamazaki, Francesco Frugoni, Francesca A. Ververs, Eric J. Allenspach, Yu Zhang, Siobhan Burns, Waleed Al-Herz, Lenora Noroski, Jolan E. Walter, Andrew R. Gennery, Mirjam van der Burg, Luigi D. Notarangelo, Yu Nee Lee

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: J Allergy Clin Immunol. 2019 Feb; 143(2): 726–735. Published online 2018 Jun 18. doi: 10.1016/j.jaci.2018.04.027

PMCID:: PMC6295349

Abstract Article PDF–1.4M

Select item 607772215.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 575752716.

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

Abstract Article PDF–1.0M

Select item 566220817.

The Conserved ATM Kinase RAG2-S365 Phosphorylation Site Limits Cleavage Events in Individual Cells Independent of Any Repair Defect

Susannah L. Hewitt, Jason B. Wong, Ji-Hoon Lee, Mayilaadumveettil Nishana, Hongxi Chen, Marc Coussens, Suzzette M. Arnal, Lili M. Blumenberg, David B. Roth, Tanya T. Paull, Jane A. Skok

Cell Rep. Author manuscript; available in PMC 2017 Oct 30.

Published in final edited form as: Cell Rep. 2017 Oct 24; 21(4): 979–993. doi: 10.1016/j.celrep.2017.09.084

PMCID:: PMC5662208

Abstract Article PDF–2.4M

Select item 530316218.

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

Abstract Article PDF–327K

Select item 466262119.

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

Cullen M. Dutmer, Edwin J. Asturias, Christiana Smith, Megan K. Dishop, D. Scott Schmid, William J. Bellini, Irit Tirosh, Yu Nee Lee, Luigi D. Notarangelo, Erwin W. Gelfand

J Clin Immunol. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: J Clin Immunol. 2015 Nov; 35(8): 754–760. Published online 2015 Oct 29. doi: 10.1007/s10875-015-0207-8

PMCID:: PMC4662621

Abstract Article PDF–401K

Select item 450725020.

Role of RAG1 autoubiquitination in V(D)J recombination

Samarendra K. Singh, Martin Gellert

Proc Natl Acad Sci U S A. 2015 Jul 14; 112(28): 8579–8583. Published online 2015 Jun 29. doi: 10.1073/pnas.1510464112

PMCID:: PMC4507250

Abstract Article PDF–796K

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