| From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature. | From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.
Taghizadeh Mortezaei N, Mohammadi S, Abolhassani H, Shokri S, Nabavi M, Fallahpour M, Bemanian MH., Free PMC Article | 02/20/2024 |
| Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre. | Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B, Cagdas D, Esenboga S, Erman B, Tan C, Turul Ozgur T, Boztug K, van der Burg M, Sanal O, Tezcan I., Free PMC Article | 02/8/2024 |
| A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity. | A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity.
Jabbarpour N, Bonyadi M, Sadeghi L. | 09/27/2023 |
| Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. | Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA, Dimitrova D, Wolska-Kuśnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner J, Buchbinder D, Cowan MJ, Gennery AR, Güngör T, Heimall J, Miano M, Meyts I, Morris EC, Rivière J, Sharapova SO, Shaw PJ, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert MH, Puck JM, Lankester AC, Notarangelo LD, Neven B., Free PMC Article | 02/22/2023 |
| Rag2(-/-) accelerates lipofuscin accumulation in the brain: Implications for human stem cell brain transplantation studies. | Rag2(-/-) accelerates lipofuscin accumulation in the brain: Implications for human stem cell brain transplantation studies.
Jin M, Alam MM, Liu AY, Jiang P., Free PMC Article | 11/19/2022 |
| Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells. | Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells.
Csomos K, Ujhazi B, Blazso P, Herrera JL, Tipton CM, Kawai T, Gordon S, Ellison M, Wu K, Stowell M, Haynes L, Cruz R, Zakota B, Nguyen J, Altrich M, Geier CB, Sharapova S, Dasso JF, Leiding JW, Smith G, Al-Herz W, de Barros Dorna M, Fadugba O, Fronkova E, Kanderova V, Svaton M, Henrickson SE, Hernandez JD, Kuijpers T, Kandilarova SM, Naumova E, Milota T, Sediva A, Moshous D, Neven B, Saco T, Sargur R, Savic S, Sleasman J, Sunkersett G, Ward BR, Komatsu M, Pittaluga S, Kumanovics A, Butte MJ, Cancro MP, Pillai S, Meffre E, Notarangelo LD, Walter JE., Free PMC Article | 08/27/2022 |
| RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination. | RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination.
Gan T, Wang Y, Liu Y, Schatz DG, Hu J., Free PMC Article | 02/19/2022 |
| Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats. | Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.
Zhang L, Ge JY, Zheng YW, Sun Z, Wang C, Peng Z, Wu B, Fang M, Furuya K, Ma X, Shao Y, Ohkohchi N, Oda T, Fan J, Pan G, Li D, Hui L., Free PMC Article | 02/12/2022 |
| Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations. | Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME., Free PMC Article | 02/5/2022 |
| The Interplay Between Chromatin Architecture and Lineage-Specific Transcription Factors and the Regulation of Rag Gene Expression. | The Interplay Between Chromatin Architecture and Lineage-Specific Transcription Factors and the Regulation of Rag Gene Expression.
Miyazaki K, Miyazaki M., Free PMC Article | 10/23/2021 |
| Co-evolution of mutagenic genome editors and vertebrate adaptive immunity. | Co-evolution of mutagenic genome editors and vertebrate adaptive immunity.
Trancoso I, Morimoto R, Boehm T., Free PMC Article | 10/9/2021 |
| The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries. | The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV., Free PMC Article | 05/8/2021 |
| A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis. | A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
Greenberg-Kushnir N, Lee YN, Simon AJ, Lev A, Marcus N, Abuzaitoun O, Somech R, Stauber T. | 02/13/2021 |
| Atypical Omenn Syndrome Due to RAG2 Gene Mutation. | Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report.
Pourvali A, Arshi S, Nabavi M, Bemanian MH, Shokri S, Shahrooei M, Rezaei N, Fallahpour M. | 05/2/2020 |
| this study demonstrates recombination activity of human RAG2 mutations and correlation with clinical phenotype | Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN., Free PMC Article | 02/29/2020 |
| The RAG2 cleavage in developing T and B cells signals transcriptional activation of a genetic program that modulates cellular localization and includes genes important for proper lymphocyte selection. | From RAG2 to T Cell Riches and Future Fortunes.
Glynn RA, Bassing CH. | 11/16/2019 |
| Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium. | Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
Kumánovics A, Lee YN, Close DW, Coonrod EM, Ujhazi B, Chen K, MacArthur DG, Krivan G, Notarangelo LD, Walter JE., Free PMC Article | 11/17/2018 |
| Mutation of serine 365 to alanine permits bi-allelic and bi-locus RAG-mediated breaks in the same cell, leading to reciprocal translocations. | The Conserved ATM Kinase RAG2-S365 Phosphorylation Site Limits Cleavage Events in Individual Cells Independent of Any Repair Defect.
Hewitt SL, Wong JB, Lee JH, Nishana M, Chen H, Coussens M, Arnal SM, Blumenberg LM, Roth DB, Paull TT, Skok JA., Free PMC Article | 06/16/2018 |
| the ability of the RAG nuclease to minimize the risks of genome disruption by coupling the breakage and repair steps of the V(D)J reaction. This implies that the RAG genes, derived from an ancient transposon, have undergone strong selective pressure to prohibit transposition in favor of promoting controlled DNA end joining in cis by the ubiquitous DNA damage response and DNA repair machineries | The RAG recombinase: Beyond breaking.
Lescale C, Deriano L. | 04/28/2018 |
| We report two siblings with SCID and an atypical phenotype of osteopetrosis (OP). A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported | Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.
Weisz Hubshman M, Basel-Vanagaite L, Krauss A, Konen O, Levy Y, Garty BZ, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D, Shichrur K, Avigad S, Hayman-Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I, Stein J. | 01/13/2018 |
| The show that DNA damage caused by RAG2 activity in pre-B cells was able to downmodulate RAG2 expression and activity, confirming the existence of a negative feedback regulatory mechanism. | The DNA Damage Response Regulates RAG1/2 Expression in Pre-B Cells through ATM-FOXO1 Signaling.
Ochodnicka-Mackovicova K, Bahjat M, Maas C, van der Veen A, Bloedjes TA, de Bruin AM, van Andel H, Schrader CE, Hendriks RW, Verhoeyen E, Bende RJ, van Noesel CJ, Guikema JE. | 10/7/2017 |
| molecular and cellular mechanisms that account for the expanding range of clinical and immunological phenotypes of human RAG deficiency (review) | Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD, Kim MS, Walter JE, Lee YN., Free PMC Article | 10/1/2016 |
| gene deficiency results in late onset autoimmune hemolytic anemia | Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.
Dutmer CM, Asturias EJ, Smith C, Dishop MK, Schmid DS, Bellini WJ, Tirosh I, Lee YN, Notarangelo LD, Gelfand EW., Free PMC Article | 09/10/2016 |
| This study reports on the prevalence of RAG1 and RAG2 mutations in ten severe combined immunodeficiency disorder patients in Egypt. | Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
Meshaal S, El Hawary R, Elsharkawy M, Mousa RK, Farid RJ, Abd Elaziz D, Alkady R, Galal N, Massaad MJ, Boutros J, Elmarsafy A. | 08/29/2015 |
| analysis of regions of RAG1 necessary for interaction with RAG2 and measurement of the RAG1-RAG2 binding affinity | Mapping and Quantitation of the Interaction between the Recombination Activating Gene Proteins RAG1 and RAG2.
Zhang YH, Shetty K, Surleac MD, Petrescu AJ, Schatz DG., Free PMC Article | 08/8/2015 |