Associated Papers
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
37854700 (PubMed )
Supplement: mmc3.xlsx › Table_S2_RAG2_Scores_57_74
Monogenic lupus: Tracing the therapeutic implications from single gene mutations.
Jia X et al.
Clinical Immunology (orlando, Fla.), 2023
RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination.
Gan T et al.
Cell Reports, 2021
Predicting the Occurrence of Variants in RAG1 and RAG2.
Lawless D et al.
Journal of Clinical Immunology, 2019
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
Tirosh I et al.
The Journal of Allergy and Clinical Immunology, 2019
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K et al.
Frontiers in Immunology, 2017
Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD et al.
Nature Reviews. Immunology, 2016
Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis.
Walter JE et al.
The Journal of Allergy and Clinical Immunology, 2015
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A et al.
Blood, 2001
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.
Corneo B et al.
The Journal of Biological Chemistry, 2000
The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis.
Callebaut I et al.
Cellular and Molecular Life Sciences : Cmls, 1998
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A et al.
Cell, 1998
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