Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.
Kabadayı G et al.
Bmc Immunology, 2025
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 in recent human history.
Zhao B et al.
Bmc Cancer, 2024
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
Cernunnos deficiency: Further delineation in 5 Egyptian patients.
El Hawary R et al.
European Journal of Medical Genetics, 2023
DNA double-strand break genetic variants in patients with premature ovarian insufficiency.
Ding X et al.
Journal of Ovarian Research, 2023
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
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice.
Li G et al.
Journal of Medical Genetics, 2022
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Firtina S et al.
International Journal of Immunogenetics, 2020
Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing: Implications for adjustment of BCG vaccination timing in China.
Liu G et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Kalina T et al.
Frontiers in Immunology, 2020
XLF and APLF bind Ku80 at two remote sites to ensure DNA repair by non-homologous end joining.
Nemoz C et al.
Nature Structural & Molecular Biology, 2018
Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.
Recio MJ et al.
Frontiers in Immunology, 2018
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
Sheikh F et al.
Journal of Clinical Immunology, 2017
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Carrillo J et al.
Human Molecular Genetics, 2017
Germline mutations predisposing to diffuse large B-cell lymphoma.
Leeksma OC et al.
Blood Cancer Journal, 2017
Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.
Goh G et al.
Plos Medicine, 2016
XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
IJspeert H et al.
Blood, 2016
Combined immunodeficiencies: twenty years experience from a single center in Turkey.
Akar HH et al.
Central-european Journal of Immunology, 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
Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency.
Cipe FE et al.
Case Reports in Pediatrics, 2014
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.
Çağdaş D et al.
Pediatric Transplantation, 2012
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
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
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, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Buck D et al.
Cell, 2006