Associated Papers
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
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
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Cancer predisposition genes in Japanese children with rhabdomyosarcoma.
Fukushima H et al.
Journal of Human Genetics, 2022
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
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J et al.
Frontiers in Immunology, 2020
Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis.
Kaminski AM et al.
Nature Communications, 2018
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.
Kojima D et al.
The Journal of Allergy and Clinical Immunology, 2016
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
Tamura S et al.
Clinical Immunology (orlando, Fla.), 2015
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
40457861 (PubMed )
Supplement: PED-67-e70085-s003.xlsx › TableS3
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