Associated Papers
Integrated case-control and in silico analysis of DNA double-strand break repair gene variants (RAD51, XRCC2, XRCC3, XRCC4, and LIG4) for ovarian cancer susceptibility.
Sistla HC et al.
Gene, 2026
Defective DNA repair: a putative nexus linking immunological diseases, neurodegenerative disorders, and cancer.
Andarawi S et al.
Mutagenesis, 2025
The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm.
Pinheiro RF et al.
Dna Repair, 2025
Genomic instability in ovarian cancer: Through the lens of single nucleotide polymorphisms.
Canchi Sistla H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.
Nurminen R et al.
Scientific Reports, 2024
Extreme acute radiation-induced toxicity in a patient with polymorphous low-grade adenocarcinoma of the nasopharynx and rare variants in DNA repair genes.
Nowicka Z et al.
Head & Neck, 2024
ATR inhibition using gartisertib enhances cell death and synergises with temozolomide and radiation in patient-derived glioblastoma cell lines.
Lozinski M et al.
Oncotarget, 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
DNA Double-Strand Break Response and Repair Gene Polymorphisms May Influence Therapy Results and Prognosis in Head and Neck Cancer Patients.
Butkiewicz D et al.
Cancers, 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
Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.
Uppugunduri CRS et al.
The Pharmacogenomics Journal, 2022
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Castro ACE et al.
Frontiers in Immunology, 2022
Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives.
Karimian M et al.
Expert Review of Molecular Diagnostics, 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
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 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
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
Association of DNA repair gene polymorphisms with colorectal cancer risk and treatment outcomes.
Al-Shaheri FN et al.
Experimental and Molecular Pathology, 2020
Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.
Santos LS et al.
Genes, 2019
Association of XRCC6 C1310G and LIG4 T9I polymorphisms of NHEJ DNA repair pathway with risk of colorectal cancer in the Polish population.
Balinska K et al.
Polski Przeglad Chirurgiczny, 2019
Azoospermic infertility is associated with altered expression of DNA repair genes.
Singh V et al.
Dna Repair, 2019
Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.
Madi A et al.
European Journal of Cancer (oxford, England : 1990), 2018
Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis.
Kaminski AM et al.
Nature Communications, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 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
Polymorphisms of DNA repair genes XRCC1 and LIG4 and idiopathic male infertility.
Ghasemi H et al.
Systems Biology in Reproductive Medicine, 2017
Association of DNA repair gene polymorphisms with genotoxic stress in underground coal miners.
Sinitsky MY et al.
Mutagenesis, 2017
Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.
Wang J et al.
Scientific Reports, 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
Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.
Pratz KW et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016
DNA excision repair and double-strand break repair gene polymorphisms and the level of chromosome aberration in children with long-term exposure to radon.
Larionov AV et al.
International Journal of Radiation Biology, 2016
Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals.
Mumbrekar KD et al.
Dna Repair, 2016
Molecular and immunological characterization of DNA ligase IV deficiency.
Jiang J et al.
Clinical Immunology (orlando, Fla.), 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
DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells.
Björkman A et al.
Journal of Immunology (baltimore, Md. : 1950), 2015
Relevance of LIG4 gene polymorphisms with cancer susceptibility: evidence from a meta-analysis.
Xie S et al.
Scientific Reports, 2014
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
The impact of functional LIG4 polymorphism on platinum-based chemotherapy response and survival in non-small cell lung cancer.
Jiang YH et al.
Medical Oncology (northwood, London, England), 2014
Polymorphisms in radio-responsive genes and its association with acute toxicity among head and neck cancer patients.
Venkatesh GH et al.
Plos One, 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
Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population.
Ji G et al.
Reproduction (cambridge, England), 2013
Induction of sister chromatid exchange by acrylamide and glycidamide in human lymphocytes: role of polymorphisms in detoxification and DNA-repair genes in the genotoxicity of glycidamide.
Pingarilho M et al.
Mutation Research, 2013