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Page 1
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH. Brooks BP, et al. Among authors: inui h. Ophthalmology. 2013 Jul;120(7):1324-36. doi: 10.1016/j.ophtha.2012.12.044. Epub 2013 Apr 16. Ophthalmology. 2013. PMID: 23601806 Free PMC article.
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH. Emmert S, et al. Among authors: inui h. J Invest Dermatol. 2002 Jun;118(6):972-82. doi: 10.1046/j.1523-1747.2002.01782.x. J Invest Dermatol. 2002. PMID: 12060391 Free article.
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH. Bradford PT, et al. Among authors: inui h. J Med Genet. 2011 Mar;48(3):168-76. doi: 10.1136/jmg.2010.083022. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097776 Free PMC article.
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH. Khan SG, et al. Among authors: inui h. Hum Mol Genet. 2004 Feb 1;13(3):343-52. doi: 10.1093/hmg/ddh026. Epub 2003 Dec 8. Hum Mol Genet. 2004. PMID: 14662655
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, Gozukara E, Emmert S, Slor H, Busch DB, Baker CC, DiGiovanna JJ, Tamura D, Seitz CS, Gratchev A, Wu WH, Chung KY, Chung HJ, Azizi E, Woodgate R, Schneider TD, Kraemer KH. Inui H, et al. J Invest Dermatol. 2008 Aug;128(8):2055-68. doi: 10.1038/jid.2008.48. Epub 2008 Mar 27. J Invest Dermatol. 2008. PMID: 18368133 Free PMC article.
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH. Khan SG, et al. Among authors: inui h. Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. doi: 10.1093/nar/gkf469. Nucleic Acids Res. 2002. PMID: 12177305 Free PMC article.
524 results