| 1 | LIG4, RAD51, XRCC4
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| Impaired DNA double-strand break repair contributes to the age-associated rise of genomic instability in humans.
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| Li Z, Zhang W, Chen Y, Guo W, Zhang J, Tang H, Xu Z, Zhang H, Tao Y, Wang F, Jiang Y, Sun FL, Mao Z.
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| Cell Death Differ 23(11):1765-1777. doi: 10.1038/cdd.2016.65.
2016
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| 2 | LIG4, RAD52
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| LIG4 and RAD52 DNA repair genes polymorphisms and systemic lupus erythematosus.
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| De Azevêdo Silva J, Pancotto JA, Donadi EA, Crovella S, Sandrin-Garcia P.
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| Mol Biol Rep ol Biol Rep. 2014 Jan 12. [Epub ahead of print]
2014
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| 3 | LIG4
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| Altered regulation of DNA ligase IV activity by aberrant promoter DNA methylation and gene amplification in colorectal cancer.
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| Kuhmann C, Li C, Kloor M, Salou M, Weigel C, Schmidt CR, Ng LW, Tsui WW, Leung SY, Yuen ST, Becker N, Weichenhan D, Plass C, Schmezer P, Chan TL, Popanda O.
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| Hum Mol Genet 23(8):2043-54. doi: 10.1093/hmg/ddt599. Epub 2013 Nov 26.
2014
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| 4 | LIG4, LIG4S
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| Extreme growth failure is a common presentation of ligase IV deficiency.
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| Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.
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| Hum Mutat 35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.
2014
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| 5 | LIG1, LIG3, LIG4
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| DNA ligase I is not essential for mammalian cell viability.
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| Han L, Masani S, Hsieh CL, Yu K.
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| Cell Rep 7(2):316-20. doi: 10.1016/j.celrep.2014.03.024. Epub 2014 Apr 13.
2014
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| 6 | LIG4, NHEJ1, XRCC4
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| C-Terminal region of DNA ligase IV drives XRCC4/DNA ligase IV complex to chromatin.
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| Liu S, Liu X, Kamdar RP, Wanotayan R, Sharma MK, Adachi N, Matsumoto Y.
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| Biochem Biophys Res Commun 439(2):173-8. doi: 10.1016/j.bbrc.2013.08.068. Epub 2013 Aug 28.
2013
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| 7 | LIG4, LIG4S
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| Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
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| I Jspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, van Dongen JJ, van Gent DC, van der Burg M.
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| Hum Mutat 34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18.
2013
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| 8 | LIG4
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| Human LIGIV is synthetically lethal with the loss of Rad54B-dependent recombination and is required for certain chromosome fusion events induced by telomere dysfunction.
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| Oh S, Wang Y, Zimbric J, Hendrickson EA.
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| Nucleic Acids Res 41(3):1734-49. doi: 10.1093/nar/gks1326. Epub 2012 Dec 28.
2013
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| 9 | DCLRE1C, LIG4
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| Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining.
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| De Ioannes P, Malu S, Cortes P, Aggarwal AK.
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| Cell Rep 2(6):1505-12. doi: 10.1016/j.celrep.2012.11.004. Epub 2012 Dec 7.
2012
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| 10 | LIG4, XRCC4
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| XRCC4 controls nuclear import and distribution of Ligase IV and exchanges faster at damaged DNA in complex with Ligase IV.
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| Berg E, Christensen MO, Dalla Rosa I, Wannagat E, Jänicke RU, Rösner LM, Dirks WG, Boege F, Mielke C.
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| DNA Repair (Amst) 10(12):1232-42. doi: 10.1016/j.dnarep.2011.09.012. Epub 2011 Oct 5.
2011
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| 11 | LIG4
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| Requirement for DNA ligase IV during embryonic neuronal development.
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| Gatz SA, Ju L, Gruber R, Hoffmann E, Carr AM, Wang ZQ, Liu C, Jeggo PA.
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| J Neurosci 31(27):10088-100. doi: 10.1523/JNEUROSCI.1324-11.2011. Erratum in: J Neurosci. 2011 Sep 21;31(38):13695.
2011
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| 12 | LIG4
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| Expression analysis of proteins involved in the non homologous end joining DNA repair mechanism, in the bone marrow of adult de novo myelodysplastic syndromes.
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| Economopoulou P, Pappa V, Kontsioti F, Papageorgiou S, Foukas P, Liakata E, Economopoulou C, Vassilatou D, Ioannidou ED, Chondropoulos S, Tsirigotis P, Papageorgiou E, Dervenoulas J, Economopoulos T.
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| Ann Hematol 89(3):233-9. Epub 2009 Sep 2.
2010
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| 13 | BRCA1, LIG4, TP53BP1
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| 53BP1 inhibits homologous recombination in Brca1-deficient cells by blocking resection of DNA breaks.
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| Bunting SF, Callén E, Wong N, Chen HT, Polato F, Gunn A, Bothmer A, Feldhahn N, Fernandez-Capetillo O, Cao L, Xu X, Deng CX, Finkel T, Nussenzweig M, Stark JM, Nussenzweig A.
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| Cell 141(2):243-54. Epub 2010 Apr 1.
2010
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| 14 | LIG4, LIG4S
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| A novel mutation in a family with DNA ligase IV deficiency syndrome.
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| Unal S, Cerosaletti K, Uckan-Cetinkaya D, Cetin M, Gumruk F.
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| Pediatr Blood Cancer 53(3):482-4.
2009
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| 15 | LIG4, XRCC4
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| Structural and functional interaction between the human DNA repair proteins DNA ligase IV and XRCC4.
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| Wu PY, Frit P, Meesala S, Dauvillier S, Modesti M, Andres SN, Huang Y, Sekiguchi J, Calsou P, Salles B, Junop MS.
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| Mol Cell Biol 29(11):3163-72. Epub 2009 Mar 30. 2009
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| 16 | LIG4, XRCC4
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| Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma.
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| Liu Y, Zhou K, Zhang H, Shugart YY, Chen L, Xu Z, Zhong Y, Liu H, Jin L, Wei Q, Huang F, Lu D, Zhou L.
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| Hum Mutat 29(3):381-9. 2008
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| 17 | LIG4, LIG4S
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| Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
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| Toita N, Hatano N, Ono S, Yamada M, Kobayashi R, Kobayashi I, Kawamura N, Okano M, Satoh A, Nakagawa A, Ohshima K, Shindoh M, Takami T, Kobayashi K, Ariga T.
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| Am J Med Genet A 143(7):742-5. 2007
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| 18 | LIG4, XRCC4
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| Extensive ssDNA end formation at DNA double-strand breaks in non-homologous end-joining deficient cells during the S phase.
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| Karlsson KH, Stenerlöw B.
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| BMC Mol Biol 8:97.
2007
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| 19 | LIG4, LIG4S
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| A patient with mutations in DNA ligase IV : clinical features and overlap with Nijmegen breakage syndrome.
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| Ben-Omran, T. I.; Cerosaletti, K.; Concannon, P.; Weitzman, S.; Nezarati, M. M.
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| Am. J. Med. Genet. 137A: 283-287. 2005
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| 20 | LIG4, LIG4S
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| A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
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| Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM.
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| Am J Med Genet A 137(3):283-7. 2005
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| 21 | LIG4, LIG4S
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| Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
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| Girard PM, Kysela B, Harer CJ, Doherty AJ, Jeggo PA.
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| Hum Mol Genet 13(20):2369-76. Epub 2004 Aug 27. 2004
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| 22 | LIG4
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| Phosphorylation and regulation of DNA ligase IV stability by DNA-dependent protein kinase.
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| Wang YG, Nnakwe C, Lane WS, Modesti M, Frank KM.
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| J Biol Chem 279(36):37282-90. Epub 2004 Jun 11.
2004
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| 23 | XRCC6, LIG4, PRKDC, XRCC4, XRCC5
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| Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4-ligase IV recruitment.
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| Calsou P, Delteil C, Frit P, Drouet J, Salles B.
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| J Mol Biol 326(1):93-103. 2003
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| 24 | LIG4
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| Impact of DNA ligase IV on the fidelity of end joining in human cells.
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| Smith J, Riballo E, Kysela B, Baldeyron C, Manolis K, Masson C, Lieber MR, Papadopoulo D, Jeggo P.
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| Nucleic Acids Res 31(8):2157-67. 2003
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| 25 | LIG4
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| Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.
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| Roddam PL, Rollinson S, O'Driscoll M, Jeggo PA, Jack A, Morgan GJ.
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| J Med Genet 39(12):900-5. 2002
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| 26 | XRCC6, LIG4, POLM, PRKDC, XRCC4, XRCC5
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| Association of DNA polymerase mu (pol mu) with Ku and ligase IV: role for pol mu in end-joining double-strand break repair.
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| Mahajan KN, Nick McElhinny SA, Mitchell BS, Ramsden DA.
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| Mol Cell Biol 22(14):5194-202. 2002
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| 27 | LIG4, LIG4S
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| DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
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| O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P.
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| Mol Cell 8(6):1175-85. 2001
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| 28 | XRCC6, LIG4, XRCC4, XRCC5
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| Defective embryonic neurogenesis in Ku-deficient but not DNA-dependent protein kinase catalytic subunit-deficient mice.
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| Gu Y, Sekiguchi J, Gao Y, Dikkes P, Frank K, Ferguson D, Hasty P, Chun J, Alt FW.
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| Proc Natl Acad Sci U S A 97(6):2668-73. 2000
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| 29 | XRCC6, XRCC5, LIG4, PRKDC, XRCC4
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| Binding of inositol phosphate to DNA-PK and stimulation of double-strand break repair.
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| Hanakahi LA, Bartlet-Jones M, Chappell C, Pappin D, West SC.
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| Cell 102(6):721-9. 2000
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| 30 | CLU, XRCC5, LIG4, XRCC4
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| A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis.
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| Gao Y, Sun Y, Frank KM, Dikkes P, Fujiwara Y, Seidl KJ, Sekiguchi JM, Rathbun GA, Swat W, Wang J, Bronson RT, Malynn BA, Bryans M, Zhu C, Chaudhuri J, Davidson L, Ferrini R, Stamato T, Orkin SH, Greenberg ME, Alt FW.
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| Cell 95(7):891-902. 1998
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| 31 | LIG3, LIG4
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| Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination.
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| Wei YF, et al.
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| Mol Cell Biol 15 : 3206-3216. 1995
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