Associated Papers
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK et al.
Annals of the Rheumatic Diseases, 2021
33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_17
Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency.
Dorna MB et al.
Frontiers in Pediatrics, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_OtherCG
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
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bagnall RD et al.
Bmc Medical Genetics, 2014
25224718 (PubMed )
Supplement: 12881_2014_99_MOESM2_ESM.xlsx › Supplementary_Table_2
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
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
Chen K et al.
The Journal of Allergy and Clinical Immunology, 2014
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M et al.
Blood, 2011
Omenn syndrome does not live by V(D)J recombination alone.
Marrella V et al.
Current Opinion in Allergy and Clinical Immunology, 2011
IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
Safaei S et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2011
Novel presentation of Omenn syndrome in association with aniridia.
Sheehan WJ et al.
The Journal of Allergy and Clinical Immunology, 2009
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