Khan SG - Search Results

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: khan sg. 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.

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

Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.

Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH. Slor H, et al. Among authors: khan sg. J Invest Dermatol. 2000 Dec;115(6):974-80. doi: 10.1046/j.1523-1747.2000.00190.x. J Invest Dermatol. 2000. PMID: 11121128 Free article.

6

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.

7

A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH. Gozukara EM, et al. Among authors: khan sg. J Invest Dermatol. 2001 Aug;117(2):197-204. doi: 10.1046/j.1523-1747.2001.01424.x. J Invest Dermatol. 2001. PMID: 11511294 Free article.

8

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.

9

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.

10

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

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