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
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
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and 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
Hypomorphic mutations in human DNA ligase IV lead to compromised DNA binding efficiency, hydrophobicity and thermal stability.
Maddi ER et al.
Protein Engineering, Design & Selection : Peds, 2021
Variations in nuclear localization strategies among pol X family enzymes.
Kirby TW et al.
Traffic (copenhagen, Denmark), 2018
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Staines Boone AT et al.
Frontiers in Pediatrics, 2018
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
Fadda A et al.
Bmc Medical Genetics, 2016
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne AJ et al.
Haematologica, 2016
The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.
Park J et al.
Journal of Immunology (baltimore, Md. : 1950), 2016
Yeast DNA ligase IV mutations reveal a nonhomologous end joining function of BRCT1 distinct from XRCC4/Lif1 binding.
Chiruvella KK 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
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE et al.
Human Mutation, 2014
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
Stewart DR et al.
Plos One, 2014
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
IJspeert H et al.
Human Mutation, 2013
C-Terminal region of DNA ligase IV drives XRCC4/DNA ligase IV complex to chromatin.
Liu S et al.
Biochemical and Biophysical Research Communications, 2013
A noncatalytic function of the ligation complex during nonhomologous end joining.
Cottarel J et al.
The Journal of Cell Biology, 2013
Identification of the DNA repair defects in a case of Dubowitz syndrome.
Yue J et al.
Plos One, 2013
Human Mre11/human Rad50/Nbs1 and DNA ligase IIIalpha/XRCC1 protein complexes act together in an alternative nonhomologous end joining pathway.
Della-Maria J et al.
The Journal of Biological Chemistry, 2011
Structural biology of DNA repair: spatial organisation of the multicomponent complexes of nonhomologous end joining.
Ochi T et al.
Journal of Nucleic Acids, 2010
Ligase IV syndrome.
Chistiakov DA
Advances in Experimental Medicine and Biology, 2010
A novel mutation in a family with DNA ligase IV deficiency syndrome.
Unal S et al.
Pediatric Blood & Cancer, 2009
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.
Enders A et al.
Journal of Immunology (baltimore, Md. : 1950), 2006
Structure of an Xrcc4-DNA ligase IV yeast ortholog complex reveals a novel BRCT interaction mode.
Doré AS et al.
Dna Repair, 2006
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
Buck D et al.
European Journal of Immunology, 2006
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Ben-Omran TI et al.
American Journal of Medical Genetics. Part A, 2005
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
Girard PM et al.
Human Molecular Genetics, 2004
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
O'Driscoll M et al.
Molecular Cell, 2001