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Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4.
Mari PO, Florea BI, Persengiev SP, Verkaik NS, Brüggenwirth HT, Modesti M, Giglia-Mari G, Bezstarosti K, Demmers JA, Luider TM, Houtsmuller AB, van Gent DC. Mari PO, et al. Proc Natl Acad Sci U S A. 2006 Dec 5;103(49):18597-602. doi: 10.1073/pnas.0609061103. Epub 2006 Nov 21. Proc Natl Acad Sci U S A. 2006. PMID: 17124166 Free PMC article.
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. Jaspers NG, et al. Am J Hum Genet. 2007 Mar;80(3):457-66. doi: 10.1086/512486. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273966 Free PMC article.
40 results