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Nonhomologous end joining and V(D)J recombination require an additional factor.

Dai Y, Kysela B, Hanakahi LA, Manolis K, Riballo E, Stumm M, Harville TO, West SC, Oettinger MA, Jeggo PA.

Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2462-7. Epub 2003 Feb 25.


Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation-what to do?

Cowan MJ, Gennery AR.

J Allergy Clin Immunol. 2015 Jun 5. pii: S0091-6749(15)00589-8. doi: 10.1016/j.jaci.2015.04.027. [Epub ahead of print]


Congenital defects in V(D)J recombination.

de Villartay JP.

Br Med Bull. 2015 Jun;114(1):157-67. doi: 10.1093/bmb/ldv020. Epub 2015 May 17.


Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, Villartay JP, Sleckman BP, Manis J, Notarangelo LD.

J Allergy Clin Immunol. 2015 Apr 25. pii: S0091-6749(15)00345-0. doi: 10.1016/j.jaci.2015.03.005. [Epub ahead of print]


D-J joining and D-J proteins in B cells and T cells.

Coleclough C.

Immunol Today. 1985 Apr;6(4):128-30. doi: 10.1016/0167-5699(85)90078-7. No abstract available.


Hematopoietic stem cell dysfunction underlies the progressive lymphocytopenia in XLF/Cernunnos deficiency.

Avagyan S, Churchill M, Yamamoto K, Crowe JL, Li C, Lee BJ, Zheng T, Mukherjee S, Zha S.

Blood. 2014 Sep 4;124(10):1622-5. doi: 10.1182/blood-2014-05-574863. Epub 2014 Jul 29.


Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.

Felgentreff K, Du L, Weinacht KG, Dobbs K, Bartish M, Giliani S, Schlaeger T, DeVine A, Schambach A, Woodbine LJ, Davies G, Baxi SN, van der Burg M, Bleesing J, Gennery A, Manis J, Pan-Hammarström Q, Notarangelo LD.

Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8889-94. doi: 10.1073/pnas.1323649111. Epub 2014 Jun 2.


Reprint of "The clinical impact of deficiency in DNA non-homologous end-joining".

Woodbine L, Gennery AR, Jeggo PA.

DNA Repair (Amst). 2014 May;17:9-20. doi: 10.1016/j.dnarep.2014.04.002. Epub 2014 Apr 26.


The clinical impact of deficiency in DNA non-homologous end-joining.

Woodbine L, Gennery AR, Jeggo PA.

DNA Repair (Amst). 2014 Apr;16:84-96. doi: 10.1016/j.dnarep.2014.02.011. Epub 2014 Mar 11. Review.


Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.

IJspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, van Dongen JJ, van Gent DC, van der Burg M.

Hum Mutat. 2013 Dec;34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18.


Structure of the catalytic region of DNA ligase IV in complex with an Artemis fragment sheds light on double-strand break repair.

Ochi T, Gu X, Blundell TL.

Structure. 2013 Apr 2;21(4):672-9. doi: 10.1016/j.str.2013.02.014. Epub 2013 Mar 21.


Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining.

De Ioannes P, Malu S, Cortes P, Aggarwal AK.

Cell Rep. 2012 Dec 27;2(6):1505-12. doi: 10.1016/j.celrep.2012.11.004. Epub 2012 Dec 7.


Structural insights into the role of domain flexibility in human DNA ligase IV.

Ochi T, Wu Q, Chirgadze DY, Grossmann JG, Bolanos-Garcia VM, Blundell TL.

Structure. 2012 Jul 3;20(7):1212-22. doi: 10.1016/j.str.2012.04.012. Epub 2012 May 31.


Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs.

Malu S, De Ioannes P, Kozlov M, Greene M, Francis D, Hanna M, Pena J, Escalante CR, Kurosawa A, Erdjument-Bromage H, Tempst P, Adachi N, Vezzoni P, Villa A, Aggarwal AK, Cortes P.

J Exp Med. 2012 May 7;209(5):955-63. doi: 10.1084/jem.20111437. Epub 2012 Apr 23.


Overlapping functions between XLF repair protein and 53BP1 DNA damage response factor in end joining and lymphocyte development.

Liu X, Jiang W, Dubois RL, Yamamoto K, Wolner Z, Zha S.

Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3903-8. doi: 10.1073/pnas.1120160109. Epub 2012 Feb 21.


Functional redundancy between repair factor XLF and damage response mediator 53BP1 in V(D)J recombination and DNA repair.

Oksenych V, Alt FW, Kumar V, Schwer B, Wesemann DR, Hansen E, Patel H, Su A, Guo C.

Proc Natl Acad Sci U S A. 2012 Feb 14;109(7):2455-60. doi: 10.1073/pnas.1121458109. Epub 2012 Jan 30.


DNA-PKcs regulates a single-stranded DNA endonuclease activity of Artemis.

Gu J, Li S, Zhang X, Wang LC, Niewolik D, Schwarz K, Legerski RJ, Zandi E, Lieber MR.

DNA Repair (Amst). 2010 Apr 4;9(4):429-37. doi: 10.1016/j.dnarep.2010.01.001. Epub 2010 Feb 1.


V(D)J recombination deficiencies.

de Villartay JP.

Adv Exp Med Biol. 2009;650:46-58. Review.


Roles for NBS1 in alternative nonhomologous end-joining of V(D)J recombination intermediates.

Deriano L, Stracker TH, Baker A, Petrini JH, Roth DB.

Mol Cell. 2009 Apr 10;34(1):13-25. doi: 10.1016/j.molcel.2009.03.009.


Cernunnos/XLF: a new player in DNA double-strand break repair.

Yano K, Morotomi-Yano K, Akiyama H.

Int J Biochem Cell Biol. 2009 Jun;41(6):1237-40. doi: 10.1016/j.biocel.2008.10.005. Epub 2008 Oct 17. Review.

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