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Page 1
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Among authors: utani a. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Nakazawa Y, et al. Among authors: utani a. Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229. Nat Genet. 2012. PMID: 22466610 Free article.
Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A. Iwanaga A, et al. Among authors: utani a. J Dermatol. 2017 Jun;44(6):644-650. doi: 10.1111/1346-8138.13727. Epub 2017 Feb 10. J Dermatol. 2017. PMID: 28186352
Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee.
Iwanaga A, Utani A, Koike Y, Okubo Y, Kuwatsuka Y, Endo Y, Tanizaki H, Wataya-Kaneda M, Hatamochi A, Minaga K, Ogi T, Yamamoto Y, Ikeda S, Tsuiki E, Tamura H, Maemura K, Kitaoka T, Murota H. Iwanaga A, et al. Among authors: utani a. J Dermatol. 2022 Mar;49(3):e91-e98. doi: 10.1111/1346-8138.16301. Epub 2022 Jan 12. J Dermatol. 2022. PMID: 35019155
Multiple dermatofibromas in a patient with Down syndrome.
Honda M, Tomimura S, de Vega S, Utani A. Honda M, et al. Among authors: utani a. J Dermatol. 2016 Mar;43(3):346-8. doi: 10.1111/1346-8138.13189. Epub 2015 Oct 28. J Dermatol. 2016. PMID: 26508658 No abstract available.
179 results