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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Integrating Gene Correction in the Reprogramming and Transdifferentiation Processes: A One-Step Strategy to Overcome Stem Cell-Based Gene Therapy Limitations.
Lee SY et al.
Stem Cells International, 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
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
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 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
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
Gruhn B et al.
Orphanet Journal of Rare Diseases, 2007
Identification of a novel motif in DNA ligases exemplified by DNA ligase IV.
Marchetti C et al.
Dna Repair, 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
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
Artemis sheds new light on V(D)J recombination.
Le Deist F et al.
Immunological Reviews, 2004
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
O'Driscoll M et al.
Molecular Cell, 2001
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.
O'Driscoll M et al.
Dna Repair, 0
Fibroblast-based radiosensitivity assays as a clinically valuable tool for (severe) combined immunodeficiency syndromes.
Beyls E et al.
Mutation Research. Genetic Toxicology and Environmental Mutagenesis, 0