UV-sensitive syndrome
Definition:
References:
-
[1]. Katsuyoshi Horibata, et al. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. [Content Brief]
[2]. T Nouspikel, et al. DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility. Cell Mol Life Sci. 2009 Mar;66(6):994-1009. [Content Brief]
[3]. Tiziana Nardo, et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. [Content Brief]
[4]. Xue Zhang, et al. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. Nat Genet. 2012 May;44(5):593-7. [Content Brief]
[5]. Yuka Nakazawa, et al. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet. 2012 May;44(5):586-92. [Content Brief]