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

Year Number of Results
1988 1
1993 1
1994 1
1996 2
1998 1
1999 1
2001 1
2006 1
2011 1
2013 2
2017 1
2018 1
2024 0

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PubMed (cited) for id: 133520

13 results

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Page 1
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Niedernhofer LJ, Oshima J. Mori T, et al. Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17. Hum Mutat. 2018. PMID: 29105242 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.
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J. Bogliolo M, et al. Am J Hum Genet. 2013 May 2;92(5):800-6. doi: 10.1016/j.ajhg.2013.04.002. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623386 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
13 results