Associated Papers
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
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Al-Tamemi S et al.
Journal of Clinical Immunology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene.
Al-Marhoobi R et al.
Journal of Pediatric Hematology/oncology, 2020
Long-Term Follow-up of a Child With Putative Remethylation Disorder Who Presented With Severe Anemia as a Neonate.
Kaya Z et al.
Journal of Pediatric Hematology/oncology, 2020
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
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
Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.
Malivert L et al.
The Journal of Biological Chemistry, 2010
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
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