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
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.
Yasar D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Nicolle R et al.
European Journal of Human Genetics : Ejhg, 2024
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
DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report.
Huang M et al.
Bmc Pediatrics, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
A case report of an adolescent with ligase-4 deficiency and the potential dangers of ionizing radiation in this rare patient population.
Chadha P et al.
Radiology Case Reports, 2021
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
Matis TS et al.
Npj Breast Cancer, 2021
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ et al.
Journal of Intellectual Disability Research : Jidr, 2021
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 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
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Sun B et al.
Orphanet Journal of Rare Diseases, 2020
DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.
Sharma R et al.
Frontiers in Pediatrics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 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
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
Slavin TP et al.
Familial Cancer, 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
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Dard R et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and 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
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
Ashton JJ et al.
Inflammatory Bowel Diseases, 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
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
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
Yeast DNA ligase IV mutations reveal a nonhomologous end joining function of BRCT1 distinct from XRCC4/Lif1 binding.
Chiruvella KK et al.
Dna Repair, 2014
DNA Ligase IV regulates XRCC4 nuclear localization.
Francis DB et al.
Dna Repair, 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 genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.
Wu G et al.
Nature Genetics, 2014
Reprint of "The clinical impact of deficiency in DNA non-homologous end-joining".
Woodbine L et al.
Dna Repair, 2014
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE et al.
Human Mutation, 2014