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
Promoted Misrejoining of X-ray Radiation-induced DNA Double-Strand Breaks in Novel DNA Ligase IV-Deficient Mouse Cells.
Kawata M et al.
Radiation Research, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Case Report: Hypomorphic Ligase 4 deficiency - a paradigm of immunodysregulation.
Andrade C et al.
Frontiers in Immunology, 2025
The KU70-SAP domain has an overlapping function with DNA-PKcs in limiting the lateral movement of KU along DNA.
Zhu Y et al.
Biorxiv : the Preprint Server for Biology, 2024
POLM variant G312R promotes ovarian tumorigenesis through genomic instability and COL11A1-NF-κB axis.
Xiao Y et al.
American Journal of Physiology. Cell Physiology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A et al.
Journal of Clinical Immunology, 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
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
Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency.
He J et al.
Transplant Immunology, 2023
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Castro ACE et al.
Frontiers in Immunology, 2022
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Miano M et al.
Frontiers in Immunology, 2022
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 2021
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
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
Luo X et al.
Frontiers in Immunology, 2021
DNA repair pathways as guardians of the genome: Therapeutic potential and possible prognostic role in hematologic neoplasms.
Rahimian E et al.
Dna Repair, 2020
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Sun B et al.
Orphanet Journal of Rare Diseases, 2020
Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.
Lun MP et al.
The American Journal of Pathology, 2019
Human DNA ligase IV is able to use NAD+ as an alternative adenylation donor for DNA ends ligation.
Chen SH et al.
Nucleic Acids Research, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
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
Germline mutations predisposing to diffuse large B-cell lymphoma.
Leeksma OC et al.
Blood Cancer Journal, 2017
2017 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2017
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K et al.
Frontiers in Immunology, 2017
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
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
Felgentreff K et al.
Journal of Clinical Immunology, 2016
LIG4 mediates Wnt signalling-induced radioresistance.
Jun S et al.
Nature Communications, 2016
Molecular and immunological characterization of DNA ligase IV deficiency.
Jiang J 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
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
DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells.
Björkman A et al.
Journal of Immunology (baltimore, Md. : 1950), 2015
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
Lysine 271 but not lysine 210 of XRCC4 is required for the nuclear localization of XRCC4 and DNA ligase IV.
Fukuchi M et al.
Biochemical and Biophysical Research Communications, 2015
DNA Ligase IV regulates XRCC4 nuclear localization.
Francis DB et al.
Dna Repair, 2014