PubMed (cited) for id: 601837

Year	Number of Results
1995	1
1996	1
1998	2
1999	1
2000	2
2001	3
2002	2
2004	2
2005	2
2006	1
2007	2
2009	1
2010	1
2024	0

1

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.

Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT. Rucci F, et al. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3024-9. doi: 10.1073/pnas.0914865107. Epub 2010 Feb 1. Proc Natl Acad Sci U S A. 2010. PMID: 20133615 Free PMC article.

2

Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome.

Nijnik A, Dawson S, Crockford TL, Woodbine L, Visetnoi S, Bennett S, Jones M, Turner GD, Jeggo PA, Goodnow CC, Cornall RJ. Nijnik A, et al. J Clin Invest. 2009 Jun;119(6):1696-705. doi: 10.1172/JCI32743. Epub 2009 May 18. J Clin Invest. 2009. PMID: 19451691 Free PMC article.

3

IgH class switching and translocations use a robust non-classical end-joining pathway.

Yan CT, Boboila C, Souza EK, Franco S, Hickernell TR, Murphy M, Gumaste S, Geyer M, Zarrin AA, Manis JP, Rajewsky K, Alt FW. Yan CT, et al. Nature. 2007 Sep 27;449(7161):478-82. doi: 10.1038/nature06020. Epub 2007 Aug 22. Nature. 2007. PMID: 17713479

4

DNA repair is limiting for haematopoietic stem cells during ageing.

Nijnik A, Woodbine L, Marchetti C, Dawson S, Lambe T, Liu C, Rodrigues NP, Crockford TL, Cabuy E, Vindigni A, Enver T, Bell JI, Slijepcevic P, Goodnow CC, Jeggo PA, Cornall RJ. Nijnik A, et al. Nature. 2007 Jun 7;447(7145):686-90. doi: 10.1038/nature05875. Nature. 2007. PMID: 17554302

5

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. J Clin Invest. 2006 Jan;116(1):137-45. doi: 10.1172/JCI26121. Epub 2005 Dec 15. J Clin Invest. 2006. PMID: 16357942 Free PMC article.

6

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. Ben-Omran TI, et al. Am J Med Genet A. 2005 Sep 1;137A(3):283-7. doi: 10.1002/ajmg.a.30869. Am J Med Genet A. 2005. PMID: 16088910

7

Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.

Girard PM, Kysela B, Härer CJ, Doherty AJ, Jeggo PA. Girard PM, et al. Hum Mol Genet. 2004 Oct 15;13(20):2369-76. doi: 10.1093/hmg/ddh274. Epub 2004 Aug 27. Hum Mol Genet. 2004. PMID: 15333585

8

Rad54 and DNA Ligase IV cooperate to maintain mammalian chromatid stability.

Mills KD, Ferguson DO, Essers J, Eckersdorff M, Kanaar R, Alt FW. Mills KD, et al. Genes Dev. 2004 Jun 1;18(11):1283-92. doi: 10.1101/gad.1204304. Genes Dev. 2004. PMID: 15175260 Free PMC article.

9

Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.

Roddam PL, Rollinson S, O'Driscoll M, Jeggo PA, Jack A, Morgan GJ. Roddam PL, et al. J Med Genet. 2002 Dec;39(12):900-5. doi: 10.1136/jmg.39.12.900. J Med Genet. 2002. PMID: 12471202 Free PMC article.

10

Variants in DNA double-strand break repair genes and breast cancer susceptibility.

Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD, Dunning A. Kuschel B, et al. Hum Mol Genet. 2002 Jun 1;11(12):1399-407. doi: 10.1093/hmg/11.12.1399. Hum Mol Genet. 2002. PMID: 12023982

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