Associated Papers
Novel NFKBIA variant causing autosomal ectodermal dysplasia with immunodeficiency.
López Sanz P et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2026
A germline IκBα mutation outside the signal reception domain blocks nuclear translocation of NFκB1 and associates with autoinflammation-like features.
Elsayed A et al.
Annals of the Rheumatic Diseases, 2025
Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia.
Gunderman LM et al.
Journal of Clinical Immunology, 2023
A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.
Wen W et al.
Genes & Diseases, 2022
Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.
Li DY et al.
Frontiers in Oncology, 2021
34055593 (PubMed )
Supplement: Table_1.xlsx › genomic_alterations_information
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.
Batlle-Masó L et al.
European Journal of Medical Genetics, 2020
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_16.xlsx › KEGG-prostate_cancer_pathway_-_
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