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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: hirano 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.
A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.
Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K. Tsuda M, et al. Among authors: hirano a. J Hum Genet. 2010 Feb;55(2):124-6. doi: 10.1038/jhg.2009.131. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075946 Free article.
One-stage, simultaneous skin grafting with artificial dermis and basic fibroblast growth factor successfully improves elasticity with maturation of scar formation.
Hamuy R, Kinoshita N, Yoshimoto H, Hayashida K, Houbara S, Nakashima M, Suzuki K, Mitsutake N, Mussazhanova Z, Kashiyama K, Hirano A, Akita S. Hamuy R, et al. Among authors: hirano a. Wound Repair Regen. 2013 Jan-Feb;21(1):141-54. doi: 10.1111/j.1524-475X.2012.00864.x. Epub 2012 Dec 10. Wound Repair Regen. 2013. PMID: 23228143
1,313 results