Associated Papers
Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Elbadry MI et al.
Annals of Hematology, 2025
40047910 (PubMed )
Supplement: 277_2025_6257_MOESM1_ESM.pdf
Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literature.
Jamee M et al.
Molecular Genetics & Genomic Medicine, 2022
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Carrillo J et al.
Human Molecular Genetics, 2017
XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
IJspeert H et al.
Blood, 2016
Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis.
Du L et al.
The Journal of Experimental Medicine, 2012
Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.
Revy P et al.
Current Opinion in Allergy and Clinical Immunology, 2006
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