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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 2
1983 1
1984 1
1985 2
1986 1
1987 2
1988 1
1989 1
1991 1
1992 1
1993 2
1994 3
1996 1
1998 1
1999 1
2001 1
2006 1
2007 1
2008 1
2011 1
2013 1
2014 1
2015 1
2016 1
2024 0

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PubMed (OMIM) for id: 2067

29 results

Results by year

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Page 1
Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice.
Vermeij WP, Dollé ME, Reiling E, Jaarsma D, Payan-Gomez C, Bombardieri CR, Wu H, Roks AJ, Botter SM, van der Eerden BC, Youssef SA, Kuiper RV, Nagarajah B, van Oostrom CT, Brandt RM, Barnhoorn S, Imholz S, Pennings JL, de Bruin A, Gyenis Á, Pothof J, Vijg J, van Steeg H, Hoeijmakers JH. Vermeij WP, et al. Nature. 2016 Sep 15;537(7620):427-431. doi: 10.1038/nature19329. Epub 2016 Aug 24. Nature. 2016. PMID: 27556946 Free PMC article.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.
ERCC1 is required for FANCD2 focus formation.
McCabe KM, Hemphill A, Akkari Y, Jakobs PM, Pauw D, Olson SB, Moses RE, Grompe M. McCabe KM, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):66-73. doi: 10.1016/j.ymgme.2008.06.009. Epub 2008 Jul 30. Mol Genet Metab. 2008. PMID: 18672388 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.
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, Appeldoorn E, Odijk H, Oostendorp R, Ahmad A, van Leeuwen W, Theil AF, Vermeulen W, van der Horst GT, Meinecke P, Kleijer WJ, Vijg J, Jaspers NG, Hoeijmakers JH. Niedernhofer LJ, et al. Nature. 2006 Dec 21;444(7122):1038-43. doi: 10.1038/nature05456. Nature. 2006. PMID: 17183314
Sequential assembly of the nucleotide excision repair factors in vivo.
Volker M, Moné MJ, Karmakar P, van Hoffen A, Schul W, Vermeulen W, Hoeijmakers JH, van Driel R, van Zeeland AA, Mullenders LH. Volker M, et al. Mol Cell. 2001 Jul;8(1):213-24. doi: 10.1016/s1097-2765(01)00281-7. Mol Cell. 2001. PMID: 11511374 Free article.
Action of DNA repair endonuclease ERCC1/XPF in living cells.
Houtsmuller AB, Rademakers S, Nigg AL, Hoogstraten D, Hoeijmakers JH, Vermeulen W. Houtsmuller AB, et al. Science. 1999 May 7;284(5416):958-61. doi: 10.1126/science.284.5416.958. Science. 1999. PMID: 10320375
29 results