Associated Papers
Unveiling the molecular profile of a prostate carcinoma: implications for personalized medicine.
Agostini M et al.
Biology Direct, 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
Current perspectives on interethnic variability in multiple myeloma: Single cell technology, population pharmacogenetics and molecular signal transduction.
Gandhi M et al.
Translational Oncology, 2022
DNA Repair Genes Polymorphisms: Impact on Acute Myeloid Leukemia Patients Outcome.
Aref S et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Castro ACE et al.
Frontiers in Immunology, 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
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis.
Kaminski AM et al.
Nature Communications, 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
Genetic effects of XRCC4 and ligase IV genes on human glioma.
Jiao K et al.
Neuroreport, 2016
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Sharapova SO et al.
Clinical Immunology (orlando, Fla.), 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
DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells.
Björkman A et al.
Journal of Immunology (baltimore, Md. : 1950), 2015
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.
Felgentreff K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
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
A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors.
Tilgner K et al.
Cell Death and Differentiation, 2013
Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility.
Zhao P et al.
Bmc Cancer, 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
A noncatalytic function of the ligation complex during nonhomologous end joining.
Cottarel J et al.
The Journal of Cell Biology, 2013
Genetics and molecular epidemiology of multiple myeloma: the rationale for the IMMEnSE consortium (review).
Martino A et al.
International Journal of Oncology, 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
[Relationship between genetic polymorphisms of DAT1 VNTR and cancer with abnormal Hilit].
Peng X et al.
Wei Sheng Yan Jiu = Journal of Hygiene Research, 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
Double-strand break DNA repair genotype predictive of later mortality and cancer incidence in a cohort of non-smokers.
Neasham D et al.
Dna Repair, 2009
CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair.
O'Driscoll M et al.
Bone Marrow Transplantation, 2008
DNA damage and repair: from molecular mechanisms to health implications.
Altieri F et al.
Antioxidants & Redox Signaling, 2008
Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma.
Liu Y et al.
Human Mutation, 2008
Polymorphisms in the DNA ligase IV gene might influence the risk of acute lymphoblastic leukemia in children.
Andreae J et al.
Leukemia, 2007
Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions.
Manuguerra M et al.
Carcinogenesis, 2007
DNA repair polymorphisms and cancer risk in non-smokers in a cohort study.
Matullo G et al.
Carcinogenesis, 2006
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
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
Buck D et al.
European Journal of Immunology, 2006
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
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.
Roddam PL et al.
Journal of Medical Genetics, 2002
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
O'Driscoll M et al.
Molecular Cell, 2001