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Solar urticaria is associated with novel rare missense variants in ACACA 与ACACA中新的罕见错义变异相关的日光性荨麻疹 McSweeney, Sheila; Christou, Vangelis; Thumber, Navandeep; McGrath, Conn; El-Sbahi, Hana; Naik, Harsha; Walker, Sue; Fityan, Adam; Ibbotson, Sally; Weatherhead, Sophie; Goulden, Victoria; Rutter, Kirsty; Rhodes, Lesley; Fassihi, Hiva; Ferguson, John; Sarkany, Robert; Tziotzios, Christos; McGrath, John; Simpson, Michael 分享 收藏
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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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Characterization of the clinical and photobiologic features of solar urticaria: a UK multicentre cross-sectional study 太阳能荨麻疹的临床和光生物学特征表征:一项英国多中心横断面研究 Thumber, Navandeep K.; Elsbahi, Hana; McGrath, Conn; Christou, Evangelos A. A.; Walker, Susan; Naik, Harsha; Bintcliffe, Keyna; Ibbotson, Sally H.; Weatherhead, Sophie; Fityan, Adam; Goulden, Victoria; Rhodes, Lesley E.; Rutter, Kirsty J.; Wagner, Annette; Grattan, Clive; Fassihi, Hiva; Ferguson, John; Sarkany, Robert; Tziotzios, Christos; Simpson, Michael; McGrath, John; McSweeney, Sheila M. 分享 收藏
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Chronic actinic dermatitis: a multicentre evaluation 慢性光化性皮炎:一项多中心评估 Rutter, Kirsty J.; Tan, Chee Hian; Ayer, Jean; Dubash, Faisal; Eadie, Ewan; Fassihi, Hiva; Ferguson, John; Fityan, Adam; Hussain, Amaani B.; Mcguire, Vicky; Montgomery, Rachel; O'Reilly, Marese; Parkin, Donna; Sarkany, Robert; Weatherhead, Sophie; Ibbotson, Sally 分享 收藏
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