PMC Articles for MedGen (Select 764087) - PMC

Select item 93139711.

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated—A Systematic Review

Tito Brambullo, Michele Rosario Colonna, Vincenzo Vindigni, Stefano Piaserico, Giuseppe Masciopinto, Mariarosaria Galeano, Alfio Luca Costa, Franco Bassetto

Biomed Res Int. 2022; 2022: 8549532. Published online 2022 Jul 18. doi: 10.1155/2022/8549532

PMCID:: PMC9313971

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Select item 56517262.

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Xiaozhu Wang, Yu Huang, Ming Yan, Jiuwei Li, Changhong Ding, Hong Jin, Fang Fang, Yanling Yang, Baiyan Wu, Dafang Chen

Sci Rep. 2017; 7: 13686. Published online 2017 Oct 20. doi: 10.1038/s41598-017-14034-3

PMCID:: PMC5651726

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Select item 49194593.

Stabilization of Ultraviolet (UV)-stimulated Scaffold Protein A by Interaction with Ubiquitin-specific Peptidase 7 Is Essential for Transcription-coupled Nucleotide Excision Repair

Mitsuru Higa, Xue Zhang, Kiyoji Tanaka, Masafumi Saijo

J Biol Chem. 2016 Jun 24; 291(26): 13771–13779. Published online 2016 Apr 28. doi: 10.1074/jbc.M116.724658

PMCID:: PMC4919459

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Select item 48046144.

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel

Orphanet J Rare Dis. 2016; 11: 26. Published online 2016 Mar 22. doi: 10.1186/s13023-016-0408-0

PMCID:: PMC4804614

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Select item 40713755.

Hypomorphic PCNA mutation underlies a human DNA repair disorder

Emma L. Baple, Helen Chambers, Harold E. Cross, Heather Fawcett, Yuka Nakazawa, Barry A. Chioza, Gaurav V. Harlalka, Sahar Mansour, Ajith Sreekantan-Nair, Michael A. Patton, Martina Muggenthaler, Phillip Rich, Karin Wagner, Roselyn Coblentz, Constance K. Stein, James I. Last, A. Malcolm R. Taylor, Andrew P. Jackson, Tomoo Ogi, Alan R. Lehmann, Catherine M. Green, Andrew H. Crosby

J Clin Invest. 2014 Jul 1; 124(7): 3137–3146. Published online 2014 Jun 9. doi: 10.1172/JCI74593

PMCID:: PMC4071375

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Select item 33405196.

The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells

Arnold D. Bailey, Lucas T. Gray, Thomas Pavelitz, John C. Newman, Katsuyoshi Horibata, Kiyoji Tanaka, Alan M. Weiner

DNA Repair (Amst) Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: DNA Repair (Amst). 2012 May 1; 11(5): 488–501. Published online 2012 Apr 6. doi: 10.1016/j.dnarep.2012.02.004

PMCID:: PMC3340519

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Select item 5244477.

Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome

Katsuyoshi Horibata, Yuka Iwamoto, Isao Kuraoka, Nicolaas G. J. Jaspers, Akihiro Kurimasa, Mitsuo Oshimura, Masamitsu Ichihashi, Kiyoji Tanaka

Proc Natl Acad Sci U S A. 2004 Oct 26; 101(43): 15410–15415. Published online 2004 Oct 14. doi: 10.1073/pnas.0404587101

PMCID:: PMC524447

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