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XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit Fassihi, H.; Mohammed, S.; Nakazawa, Y.; Fawcett, H.; Turner, S.; Palfrey, J.; Garrood, I.; Abiona, A.; Morley, A.M.S.; Shimada, M.; et al. XP-J，一种第九型着色性干皮病互补组，由GTF2H4基因突变引起，该基因编码TFIIH-p52亚基。J. Clin. Investig. 2025, 135, e195731. [Google Scholar] [CrossRef] Fassihi, Hiva; Mohammed, Shehla; Nakazawa, Yuka; Fawcett, Heather; Turner, Sally; Palfrey, Joanne; Garrood, Isabel; Abiona, Adesoji; Morley, Ana M. S.; Shimada, Mayuko; Kato, Kana; Lehmann, Alan R.; Ogi, Tomoo 分享 收藏
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy Nakazawa, Y.; Ye, L.; Oka, Y.; Morinaga, H.; Kato, K.; Shimada, M.; Tsukada, K.; Tsujikawa, K.; Nishio, Y.; Fassihi, H.; et al. TFIIH-p52ΔC定义了第九种着色性干皮症互补组XP-J，并恢复了p8缺陷性毛硫蛋白营养不良症的TFIIH稳定性。J. Clin. Investig. 2025, 135, e195732. [Google Scholar] [CrossRef] [PubMed] Nakazawa, Yuka; Ye, Lin; Oka, Yasuyoshi; Morinaga, Hironobu; Kato, Kana; Shimada, Mayuko; Tsukada, Kotaro; Tsujikawa, Koyo; Nishio, Yosuke; Fassihi, Hiva; Mohammed, Shehla; Lehmann, Alan R.; Ogi, Tomoo 分享 收藏
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Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome 核苷酸切除修复（NER）障碍与DYRK1A单倍剂量不足综合征之间的临床和分子重叠 Le May, Nicolas; Courraud, Jeremie; Boujelbene, Imene; Obringer, Cathy; Ogi, Tomoo; Lehmann, Alan R.; Laffargue, Fanny; Lehalle, Daphne; Mizuno, Seiji; Mohammed, Shehla; Ormieres, Clothilde; Willems, Marjolaine; Laugel, Vincent; Calmels, Nadege 分享 收藏
Skin Cancer Induction by the Antimycotic Drug Voriconazole Is Caused by Impaired DNA Damage Detection Due to Chromatin Compaction Giovannini, Sara; Weibel, Lisa; Schittek, Birgit; Sinnberg, Tobias; Schaller, Martin; Lemberg, Christina; Fehrenbacher, Birgit; Biesemeier, Antje; Nordin, Renate; Ivanova, Irina; Kurz, Bernadett; Svilenska, Teodora; Berger, Christoph; Bourquin, Jean-Pierre; Kulik, Andreas; Fassihi, Hiva; Lehmann, Alan; Sarkany, Robert; Kobert, Nikita; van Toorn, Marvin; Marteijn, Jurgen A.; French, Lars E.; Rocken, Martin; Vermeulen, Wim; Kamenisch, York; Berneburg, Mark 分享 收藏
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Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system 使用诱导的多能干细胞系统对着色性干皮病神经变性进行多组建模的见解 Badja, Cherif; Momen, Sophie; Koh, Gene Ching Chiek; Boushaki, Soraya; Roumeliotis, Theodoros I.; Kozik, Zuza; Jones, Ian; Bousgouni, Vicky; Dias, Joao M. L.; Krokidis, Marios G.; Young, Jamie; Chen, Hongwei; Yang, Ming; Docquier, France; Memari, Yasin; Valcarcel-Zimenez, Lorea; Gupta, Komal; Kong, Li Ren; Fawcett, Heather; Robert, Florian; Zhao, Salome; Degasperi, Andrea; Kumar, Yogesh; Davies, Helen; Harris, Rebecca; Frezza, Christian; Chatgilialoglu, Chryssostomos; Sarkany, Robert; Lehmann, Alan; Bakal, Chris; Choudhary, Jyoti; Fassihi, Hiva; Nik-Zainal, Serena 分享 收藏
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression Garcia-Moreno, Hector; Langbehn, Douglas R.; Abiona, Adesoji; Garrood, Isabel; Fleszar, Zofia; Manes, Marta Antonia; Morley, Ana M. Susana; Craythorne, Emma; Mohammed, Shehla; Henshaw, Tanya; Turner, Sally; Naik, Harsha; Bodi, Istvan; Sarkany, Robert P. E.; Fassihi, Hiva; Lehmann, Alan R.; Giunti, Paola 分享 收藏
Neurological features and progression in a large cohort with xeroderma pigmentosum Giunti, Paola; Garcia-Moreno, Hector; Langbehn, Douglas; Abiona, Adesoji; Garrood, Isabel; Fleszar, Zofia; Manes, Marta; Morley, Ana; Craythorne, Emma; Mohammed, Shehla; Henshaw, Tanya; Turner, Sally; Naik, Harsha; Bodi, Istvan; Sarkany, Robert; Fassihi, Hiva; Lehmann, Alan 分享 收藏
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients Yurchenko, Andrey A.; Rajabi, Fatemeh; Braz-Petta, Tirzah; Fassihi, Hiva; Lehmann, Alan; Nishigori, Chikako; Wang, Jinxin; Padioleau, Ismael; Gunbin, Konstantin; Panunzi, Leonardo; Morice-Picard, Fanny; Laplante, Pierre; Robert, Caroline; Kannouche, Patricia L.; Menck, Carlos F. M.; Sarasin, Alain; Nikolaev, Sergey I. 分享 收藏
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome MORC2-Related障碍的范围: 与Cockayne综合征的潜在联系 Stafki, Seth A.; Turner, Johnnie; Littel, Hannah R.; Bruels, Christine C.; Truong, Don; Knirsch, Ursula; Stettner, Georg M.; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A.; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F.; Bernard, Genevieve; Ellis, David; Fassihi, Hiva; Lehmann, Alan R.; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B. 分享 收藏
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