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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: van gent dc, van spaendonck k. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
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. Among authors: van dongen jj, van gent dc, van veelen lr. 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.
Attenuated XPC expression is not associated with impaired DNA repair in bladder cancer.
Naipal KA, Raams A, Bruens ST, Brandsma I, Verkaik NS, Jaspers NG, Hoeijmakers JH, van Leenders GJ, Pothof J, Kanaar R, Boormans J, van Gent DC. Naipal KA, et al. Among authors: van gent dc, van leenders gj. PLoS One. 2015 Apr 30;10(4):e0126029. doi: 10.1371/journal.pone.0126029. eCollection 2015. PLoS One. 2015. PMID: 25927440 Free PMC article.
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc. J Clin Invest. 2009 Jan;119(1):91-8. doi: 10.1172/JCI37141. Epub 2008 Dec 15. J Clin Invest. 2009. PMID: 19075392 Free PMC article.
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. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der flier m, van der burg m. Hum Mutat. 2013 Dec;34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 24027040 Free PMC article.
Heat-induced BRCA2 degradation in human tumours provides rationale for hyperthermia-PARP-inhibitor combination therapies.
van den Tempel N, Odijk H, van Holthe N, Naipal K, Raams A, Eppink B, van Gent DC, Hardillo J, Verduijn GM, Drooger JC, van Rhoon GC, Smedts DHPM, van Doorn HC, Boormans JL, Jager A, Franckena M, Kanaar R. van den Tempel N, et al. Among authors: van holthe n, van gent dc, van doorn hc, van rhoon gc. Int J Hyperthermia. 2018 Jun;34(4):407-414. doi: 10.1080/02656736.2017.1355487. Epub 2017 Jul 31. Int J Hyperthermia. 2018. PMID: 28705099 Free article.
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.
Ijspeert H, Lankester AC, van den Berg JM, Wiegant W, van Zelm MC, Weemaes CM, Warris A, Pan-Hammarström Q, Pastink A, van Tol MJ, van Dongen JJ, van Gent DC, van der Burg M. Ijspeert H, et al. Among authors: van dongen jj, van gent dc, van den berg jm, van tol mj, van der burg m, van zelm mc. Genes Immun. 2011 Sep;12(6):434-44. doi: 10.1038/gene.2011.16. Epub 2011 Mar 10. Genes Immun. 2011. PMID: 21390052
112 results