PubMed (OMIM) for id: 7518

Year	Number of Results
1990	1
1995	2
1998	1
2000	1
2006	1
2007	2
2008	2
2014	1
2015	5
2016	1
2024	0

1

Sliding sleeves of XRCC4-XLF bridge DNA and connect fragments of broken DNA.

Brouwer I, Sitters G, Candelli A, Heerema SJ, Heller I, de Melo AJ, Zhang H, Normanno D, Modesti M, Peterman EJ, Wuite GJ. Brouwer I, et al. Nature. 2016 Jul 28;535(7613):566-9. doi: 10.1038/nature18643. Epub 2016 Jul 20. Nature. 2016. PMID: 27437582

2

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

Guo C, Nakazawa Y, Woodbine L, Björkman A, Shimada M, Fawcett H, Jia N, Ohyama K, Li TS, Nagayama Y, Mitsutake N, Pan-Hammarström Q, Gennery AR, Lehmann AR, Jeggo PA, Ogi T. Guo C, et al. J Allergy Clin Immunol. 2015 Oct;136(4):1007-17. doi: 10.1016/j.jaci.2015.06.007. Epub 2015 Aug 5. J Allergy Clin Immunol. 2015. PMID: 26255102

3

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

Bee L, Nasca A, Zanolini A, Cendron F, d'Adamo P, Costa R, Lamperti C, Celotti L, Ghezzi D, Zeviani M. Bee L, et al. EMBO Mol Med. 2015 Jul;7(7):918-29. doi: 10.15252/emmm.201404803. EMBO Mol Med. 2015. PMID: 25872942 Free PMC article.

4

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G. Rosin N, et al. Hum Mol Genet. 2015 Jul 1;24(13):3708-17. doi: 10.1093/hmg/ddv115. Epub 2015 Apr 3. Hum Mol Genet. 2015. PMID: 25839420 Free article.

5

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A. de Bruin C, et al. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5. J Clin Endocrinol Metab. 2015. PMID: 25742519 Free PMC article.

6

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC article.

7

Genomic analysis of primordial dwarfism reveals novel disease genes.

Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS. Shaheen R, et al. Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3. Genome Res. 2014. PMID: 24389050 Free PMC article.

8

Oncogenic transformation in the absence of Xrcc4 targets peripheral B cells that have undergone editing and switching.

Wang JH, Alt FW, Gostissa M, Datta A, Murphy M, Alimzhanov MB, Coakley KM, Rajewsky K, Manis JP, Yan CT. Wang JH, et al. J Exp Med. 2008 Dec 22;205(13):3079-90. doi: 10.1084/jem.20082271. Epub 2008 Dec 8. J Exp Med. 2008. PMID: 19064702 Free PMC article.

9

Response of motor complications in Cockayne syndrome to carbidopa-levodopa.

Neilan EG, Delgado MR, Donovan MA, Kim SY, Jou RL, Wu BL, Kang PB. Neilan EG, et al. Arch Neurol. 2008 Aug;65(8):1117-21. doi: 10.1001/archneur.65.8.1117. Arch Neurol. 2008. PMID: 18695064

10

Defects in XRCC4 and KU80 differentially affect the joining of distal nonhomologous ends.

Guirouilh-Barbat J, Rass E, Plo I, Bertrand P, Lopez BS. Guirouilh-Barbat J, et al. Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):20902-7. doi: 10.1073/pnas.0708541104. Epub 2007 Dec 18. Proc Natl Acad Sci U S A. 2007. PMID: 18093953 Free PMC article.

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