Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Insights on SNPs of Human Activation-Induced Cytidine Deaminase AID.
Koveshnikova EA et al.
International Journal of Molecular Sciences, 2025
Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.
Abolhassani H et al.
Clinical Genetics, 2020
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.
Trotta L et al.
European Journal of Human Genetics : Ejhg, 2016
AID and Apobec3G haphazard deamination and mutational diversity.
Jaszczur M et al.
Cellular and Molecular Life Sciences : Cmls, 2013
A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.
Caratão N et al.
Clinical Immunology (orlando, Fla.), 2013
A structural basis for the biochemical behavior of activation-induced deoxycytidine deaminase class-switch recombination-defective hyper-IgM-2 mutants.
Mu Y et al.
The Journal of Biological Chemistry, 2012
Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.
Mahdaviani SA et al.
Expert Review of Clinical Immunology, 2012
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Wang HY et al.
Human Mutation, 2010
Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants.
Durandy A et al.
Human Mutation, 2006
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Lee WI et al.
Blood, 2005
AID mutant analyses indicate requirement for class-switch-specific cofactors.
Ta VT et al.
Nature Immunology, 2003
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
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