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: mmc2.xlsx › Table_S1_RAG1_Scores_125_74
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN et al.
The Journal of Allergy and Clinical Immunology, 2014
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.
Pasic S et al.
Journal of Clinical Immunology, 2014
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
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
Santagata S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Villa A et al.
Prenatal Diagnosis, 2000
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A et al.
Journal of Clinical Immunology, 1999
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A et al.
Cell, 1998
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