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
Deficiency of ligase IV leads to reduced NHEJ, accumulation of DNA damage, and can sensitize cells to cancer therapeutics.
Kumari N et al.
Genomics, 2023
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
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
Schober S et al.
Bmc Pediatrics, 2019
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
Molecular and immunological characterization of DNA ligase IV deficiency.
Jiang J et al.
Clinical Immunology (orlando, Fla.), 2016
Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.
Lobachevsky P et al.
The Journal of Molecular Diagnostics : Jmd, 2015
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
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
Saccharomyces cerevisiae DNA ligase IV supports imprecise end joining independently of its catalytic activity.
Chiruvella KK et al.
Plos Genetics, 2013
Structure of the catalytic region of DNA ligase IV in complex with an Artemis fragment sheds light on double-strand break repair.
Ochi T et al.
Structure (london, England : 1993), 2013
Structural insights into the role of domain flexibility in human DNA ligase IV.
Ochi T et al.
Structure (london, England : 1993), 2012
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
Omenn syndrome is associated with mutations in DNA ligase IV.
Grunebaum E et al.
The Journal of Allergy and Clinical Immunology, 2008
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