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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: ogi t. Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229. Nat Genet. 2012. PMID: 22466610 Free article.
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: ogi t. 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.
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O, Ogi T, Furukawa F, Inoue M, Yoshiura K, Kanazawa N. Tamura S, et al. Among authors: ogi t. Clin Immunol. 2015 Oct;160(2):255-60. doi: 10.1016/j.clim.2015.07.004. Epub 2015 Jul 11. Clin Immunol. 2015. PMID: 26172957
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
Guo C, Nakazawa Y, Woodbine L, Björkman A, Shimada M, Fawcett H, Jia N, Ohyama K, Li TS, Nagayama Y, Mitsutake N, Pan-Hammarström Q, Gennery AR, Lehmann AR, Jeggo PA, Ogi T. Guo C, et al. Among authors: ogi t. J Allergy Clin Immunol. 2015 Oct;136(4):1007-17. doi: 10.1016/j.jaci.2015.06.007. Epub 2015 Aug 5. J Allergy Clin Immunol. 2015. PMID: 26255102
A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
Ono R, Masaki T, Mayca Pozo F, Nakazawa Y, Swagemakers SM, Nakano E, Sakai W, Takeuchi S, Kanda F, Ogi T, van der Spek PJ, Sugasawa K, Nishigori C. Ono R, et al. Among authors: ogi t. Photodermatol Photoimmunol Photomed. 2016 Jul;32(4):174-80. doi: 10.1111/phpp.12240. Epub 2016 Jun 30. Photodermatol Photoimmunol Photomed. 2016. PMID: 26993158
254 results