PMC Links for OMIM (Select 126380) - PMC

Select item 51616871.

Diet restriction delays accelerated aging and genomic stress in DNA repair deficient mice

W.P. Vermeij, M.E.T. Dollé, E. Reiling, D. Jaarsma, C. Payan-Gomez, C.R. Bombardieri, H. Wu, A.J.M. Roks, S.M. Botter, B.C. van der Eerden, S.A. Youssef, R.V. Kuiper, B. Nagarajah, C.T. van Oostrom, R.M.C. Brandt, S. Barnhoorn, S. Imholz, J.L.A. Pennings, A. de Bruin, Á. Gyenis, J. Pothof, J. Vijg, H. van Steeg, J.H.J. Hoeijmakers

Nature. Author manuscript; available in PMC 2017 Feb 24.

Published in final edited form as: Nature. 2016 Sep 15; 537(7620): 427–431. Published online 2016 Aug 24. doi: 10.1038/nature19329

PMCID:: PMC5161687

Abstract Article PDF–3.9M

Select item 43391202.

USP45 deubiquitylase controls ERCC1–XPF endonuclease-mediated DNA damage responses

Ana B Perez-Oliva, Christophe Lachaud, Piotr Szyniarowski, Ivan Muñoz, Thomas Macartney, Ian Hickson, John Rouse, Dario R Alessi

EMBO J. 2015 Feb 3; 34(3): 326–343. Published online 2014 Dec 23. doi: 10.15252/embj.201489184

PMCID:: PMC4339120

Abstract Article PDF–2.7M

Select item 36446323.

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz, Chaowan Guo, Mayuko Shimada, Kensaku Sasaki, Heather Fawcett, Jonathan F. Wing, Susan O. Lewin, Lucinda Carr, Tao-Sheng Li, Koh-ichiro Yoshiura, Atsushi Utani, Akiyoshi Hirano, Shunichi Yamashita, Danielle Greenblatt, Tiziana Nardo, Miria Stefanini, David McGibbon, Robert Sarkany, Hiva Fassihi, Yoshito Takahashi, Yuji Nagayama, Norisato Mitsutake, Alan R. Lehmann, Tomoo Ogi

Am J Hum Genet. 2013 May 2; 92(5): 807–819. doi: 10.1016/j.ajhg.2013.04.007

PMCID:: PMC3644632

Abstract Article PDF–1.3M

Select item 31398234.

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

Siobhán Q. Gregg, Andria Rasile Robinson, Laura J. Niedernhofer

DNA Repair (Amst) Author manuscript; available in PMC 2012 Jul 15.

Published in final edited form as: DNA Repair (Amst). 2011 Jul 15; 10(7): 781–791. Published online 2011 May 25. doi: 10.1016/j.dnarep.2011.04.026

PMCID:: PMC3139823

Article PDF–1.2M

Select item 25750465.

ERCC1 is required for FANCD2 focus formation

Kevin M. McCabe, Aaron Hemphill, Yassmine Akkari, Petra M. Jakobs, Daniel Pauw, Susan B. Olson, Robb E. Moses, Markus Grompe

Mol Genet Metab. Author manuscript; available in PMC 2009 Sep 1.

Published in final edited form as: Mol Genet Metab. 2008; 95(1-2): 66–73. Published online 2008 Jul 30. doi: 10.1016/j.ymgme.2008.06.009

PMCID:: PMC2575046

Abstract Article PDF–1005K

Select item 18211176.

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

Nicolaas G. J. Jaspers, Anja Raams, Margherita Cirillo Silengo, Nils Wijgers, Laura J. Niedernhofer, Andria Rasile Robinson, Giuseppina Giglia-Mari, Deborah Hoogstraten, Wim J. Kleijer, Jan H. J. Hoeijmakers, Wim Vermeulen

Am J Hum Genet. 2007 Mar; 80(3): 457–466. Published online 2007 Jan 29. doi: 10.1086/512486