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
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
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
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 2021
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Carrillo J et al.
Human Molecular Genetics, 2017
2017 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2017
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K et al.
Frontiers in Immunology, 2017
XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
IJspeert H et al.
Blood, 2016
The spatial organization of non-homologous end joining: from bridging to end joining.
Ochi T et al.
Dna Repair, 2014
Reprint of "The clinical impact of deficiency in DNA non-homologous end-joining".
Woodbine L et al.
Dna Repair, 2014
A role for XLF in DNA repair and recombination in human somatic cells.
Fattah FJ et al.
Dna Repair, 2014
XRCC4 and XLF form long helical protein filaments suitable for DNA end protection and alignment to facilitate DNA double strand break repair.
Mahaney BL et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2013
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
XRCC4 protein interactions with XRCC4-like factor (XLF) create an extended grooved scaffold for DNA ligation and double strand break repair.
Hammel M et al.
The Journal of Biological Chemistry, 2011
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Dutrannoy V et al.
Human Mutation, 2010
Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.
Malivert L et al.
The Journal of Biological Chemistry, 2010
Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency.
Faraci M et al.
Pediatric Transplantation, 2009
Cernunnos/XLF: a new player in DNA double-strand break repair.
Yano K et al.
The International Journal of Biochemistry & Cell Biology, 2009
Crystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJ.
Li Y et al.
The Embo Journal, 2008
Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity.
Lu H et al.
The Journal of Biological Chemistry, 2007
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
Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.
Callebaut I et al.
The Journal of Biological Chemistry, 2006
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Buck D et al.
Cell, 2006