Khan SG - Search Results

1

Ocular manifestations of trichothiodystrophy.

Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH. Brooks BP, et al. Among authors: khan sg. Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28. Ophthalmology. 2011. PMID: 21959366 Free PMC article.

2

Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.

Khan SG, Levy HL, Legerski R, Quackenbush E, Reardon JT, Emmert S, Sancar A, Li L, Schneider TD, Cleaver JE, Kraemer KH. Khan SG, et al. J Invest Dermatol. 1998 Nov;111(5):791-6. doi: 10.1046/j.1523-1747.1998.00391.x. J Invest Dermatol. 1998. PMID: 9804340 Free article.

3

The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts.

Emmert S, Kobayashi N, Khan SG, Kraemer KH. Emmert S, et al. Among authors: khan sg. Proc Natl Acad Sci U S A. 2000 Feb 29;97(5):2151-6. doi: 10.1073/pnas.040559697. Proc Natl Acad Sci U S A. 2000. PMID: 10681431 Free PMC article.

4

A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.

Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M, Bale SJ, Emmert S, Kraemer KH. Khan SG, et al. Carcinogenesis. 2000 Oct;21(10):1821-5. doi: 10.1093/carcin/21.10.1821. Carcinogenesis. 2000. PMID: 11023539

5

The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.

Emmert S, Schneider TD, Khan SG, Kraemer KH. Emmert S, et al. Among authors: khan sg. Nucleic Acids Res. 2001 Apr 1;29(7):1443-52. doi: 10.1093/nar/29.7.1443. Nucleic Acids Res. 2001. PMID: 11266544 Free PMC article.

6

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: khan sg. 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.

7

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. Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. doi: 10.1093/nar/gkf469. Nucleic Acids Res. 2002. PMID: 12177305 Free PMC article.

8

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. 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

9

Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes.

Terunuma A, Ye J, Emmert S, Khan SG, Kraemer KH, Vogel JC. Terunuma A, et al. Among authors: khan sg. Gene Ther. 2004 Dec;11(23):1729-34. doi: 10.1038/sj.gt.3302344. Gene Ther. 2004. PMID: 15334113

10

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH. Khan SG, et al. Carcinogenesis. 2006 Jan;27(1):84-94. doi: 10.1093/carcin/bgi204. Epub 2005 Aug 4. Carcinogenesis. 2006. PMID: 16081512

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