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The Journal of Clinical Investigation|September 9, 2025
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophyYuka Nakazawa, Lin Ye, Yasuyoshi Oka, et al.
DNA Repair|January 14, 2011
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephalyYoshiyuki Matsumoto, Tatsuo Miyamoto, Hiromi Sakamoto, et al.
Nature Communications|April 21, 2018
Author Correction: Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repairHiroyuki Niida, Ryoichi Matsunuma, Ryo Horiguchi, et al.
Nature Communications|July 19, 2017
Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repairHiroyuki Niida, Ryoichi Matsunuma, Ryo Horiguchi, et al.
Photodermatology, Photoimmunology & Photomedicine|March 20, 2016
A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencingRyusuke Ono, Taro Masaki, Franklin Mayca Pozo, et al.
Molecular Cell|March 16, 2010
Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cellsTomoo Ogi, Siripan Limsirichaikul, René M Overmeer, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 26, 2023
Deep intronic founder mutations identified in the <i>ERCC4</i>/<i>XPF</i> gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosumChikako Senju, Yuka Nakazawa, Taichi Oso, et al.
Journal of Radiation Research|May 28, 2010
Induction of micronuclei in germinating onion seed root tip cells irradiated with high energy heavy ionsToshihiro Takatsuji, Hiroki Takayanagi, Kana Morishita, et al.
Journal of Medical Genetics|March 25, 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndromeNadege Calmels, Elena Botta, Nan Jia, et al.
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