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Page 1
DNA ligase IV syndrome; a review.
Altmann T, Gennery AR. Altmann T, et al. Orphanet J Rare Dis. 2016 Oct 7;11(1):137. doi: 10.1186/s13023-016-0520-1. Orphanet J Rare Dis. 2016. PMID: 27717373 Free PMC article. Review.
DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair DNA double stranded breaks. .
DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic featur
Ligase IV syndrome.
Chistiakov DA. Chistiakov DA. Adv Exp Med Biol. 2010;685:175-85. doi: 10.1007/978-1-4419-6448-9_16. Adv Exp Med Biol. 2010. PMID: 20687505 Review.
Ligase IV (LIG4) syndrome belongs to the group of hereditary disorders associated with impaired DNA damage response mechanisms. ...LIG4 syndrome arises from hypomorphic mutations in the LIG4 gene encoding DNA ligase IV; a component of the nonhomologous
Ligase IV (LIG4) syndrome belongs to the group of hereditary disorders associated with impaired DNA damage response mechanisms
Altered DNA ligase activity in human disease.
Tomkinson AE, Naila T, Khattri Bhandari S. Tomkinson AE, et al. Mutagenesis. 2020 Feb 13;35(1):51-60. doi: 10.1093/mutage/gez026. Mutagenesis. 2020. PMID: 31630206 Free PMC article. Review.
In the case of DNA ligase IV, the immunodeficiency is due to a defect in V(D)J recombination whereas the cause of the immunodeficiency due to DNA ligase I deficiency is not known. Overexpression of each of the DNA ligases has been …
In the case of DNA ligase IV, the immunodeficiency is due to a defect in V(D)J recombination whereas the cause of the immunode …
Eukaryotic DNA ligases.
Lasko DD, Tomkinson AE, Lindahl T. Lasko DD, et al. Mutat Res. 1990 Sep-Nov;236(2-3):277-87. doi: 10.1016/0921-8777(90)90011-s. Mutat Res. 1990. PMID: 2204827 Review.
Recent studies on eukaryotic DNA ligases are briefly reviewed. The two distinguishable enzymes from mammalian cells, DNA ligase I and DNA ligase II, have been purified to homogeneity and characterized biochemically. ...These 3 proteins ex …
Recent studies on eukaryotic DNA ligases are briefly reviewed. The two distinguishable enzymes from mammalian cells, DNA li
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
Schober S, Schilbach K, Doering M, Cabanillas Stanchi KM, Holzer U, Kasteleiner P, Schittenhelm J, Schaefer JF, Mueller I, Lang P, Handgretinger R. Schober S, et al. BMC Pediatr. 2019 Oct 11;19(1):346. doi: 10.1186/s12887-019-1724-z. BMC Pediatr. 2019. PMID: 31604460 Free PMC article. Review.
BACKGROUND: DNA ligase IV deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV (LIG4) gene. ...Apart from typical stigmata, patients with DNA ligase IV deficiency are charact …
BACKGROUND: DNA ligase IV deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the D
DNA repair in aging rat neurons.
Rao KS. Rao KS. Neuroscience. 2007 Apr 14;145(4):1330-40. doi: 10.1016/j.neuroscience.2006.09.032. Epub 2006 Dec 6. Neuroscience. 2007. PMID: 17156934 Review.
The extension activity could be restored by supplementing the neuronal extracts with pure DNA polymerase beta (pol beta) while the restoration of gap repair needed the addition of both pol beta and DNA ligase. It thus appears that both pol beta and DNA
The extension activity could be restored by supplementing the neuronal extracts with pure DNA polymerase beta (pol beta) while the re …
DNA repair: the link between primary immunodeficiency and cancer.
de Miranda NF, Björkman A, Pan-Hammarström Q. de Miranda NF, et al. Ann N Y Acad Sci. 2011 Dec;1246:50-63. doi: 10.1111/j.1749-6632.2011.06322.x. Ann N Y Acad Sci. 2011. PMID: 22236430 Review.
V(D)J recombination, class switch recombination (CSR), and somatic hypermutation (SHM) constitute complex and vulnerable processes that are orchestrated by a multitude of DNA repair pathways. When inherited defects in certain DNA repair proteins are present, lymphoc …
V(D)J recombination, class switch recombination (CSR), and somatic hypermutation (SHM) constitute complex and vulnerable processes that are …
Mechanisms of DNA double strand break repair and chromosome aberration formation.
Iliakis G, Wang H, Perrault AR, Boecker W, Rosidi B, Windhofer F, Wu W, Guan J, Terzoudi G, Pantelias G. Iliakis G, et al. Cytogenet Genome Res. 2004;104(1-4):14-20. doi: 10.1159/000077461. Cytogenet Genome Res. 2004. PMID: 15162010 Review.
This component of DSB rejoining is severely compromised in cells with mutations in DNA-PKcs, Ku, DNA ligase IV, or XRCC4, as well as after chemical inhibition of DNA-PK, indicating that it reflects classical NHEJ; we termed this form of DSB rejoining D …
This component of DSB rejoining is severely compromised in cells with mutations in DNA-PKcs, Ku, DNA ligase IV, or XRCC …
[LIG4 syndrome: a report of four cases and literature review].
Yue T, Li JG, Zhou ZX, Hou J, Xu YJ, Liu R, Shi XD. Yue T, et al. Zhonghua Er Ke Za Zhi. 2019 Mar 2;57(3):217-221. doi: 10.3760/cma.j.issn.0578-1310.2019.03.012. Zhonghua Er Ke Za Zhi. 2019. PMID: 30818900 Review. Chinese.
Completion of base excision repair by mammalian DNA ligases.
Tomkinson AE, Chen L, Dong Z, Leppard JB, Levin DS, Mackey ZB, Motycka TA. Tomkinson AE, et al. Prog Nucleic Acid Res Mol Biol. 2001;68:151-64. doi: 10.1016/s0079-6603(01)68097-8. Prog Nucleic Acid Res Mol Biol. 2001. PMID: 11554294 Review.
Interestingly, cell lines deficient in either DNA ligase I (46BR.1G1) or DNA ligase III (EM9) are sensitive to simple alkylating agents. ...DNA ligase I interacts directly with proliferating cell nuclear antigen (PCNA …
Interestingly, cell lines deficient in either DNA ligase I (46BR.1G1) or DNA ligase III (EM9) are …
18 results