Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO et al.
Frontiers in Immunology, 2020
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
Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD et al.
Nature Reviews. Immunology, 2016
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ et al.
The Journal of Allergy and Clinical Immunology, 2014
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E et al.
Clinical Immunology (orlando, Fla.), 2011
Structural insight into histone recognition by the ING PHD fingers.
Champagne KS et al.
Current Drug Targets, 2009
PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.
Baker LA et al.
Mutation Research, 2008
RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.
Matthews AG et al.
Nature, 2007
A plant homeodomain in RAG-2 that binds Hypermethylated lysine 4 of histone H3 is necessary for efficient antigen-receptor-gene rearrangement.
Liu Y et al.
Immunity, 2007
A PHD finger motif in the C terminus of RAG2 modulates recombination activity.
Elkin SK et al.
The Journal of Biological Chemistry, 2005
The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
Noordzij JG et al.
Blood, 2002
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
Gomez CA et al.
Molecular and Cellular Biology, 2000
The roles of the RAG1 and RAG2 "non-core" regions in V(D)J recombination and lymphocyte development.
Jones JM et al.
Archivum Immunologiae Et Therapiae Experimentalis, 0