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Sikandar G. Khan, Ph.D.

Sikandar G. Khan, Ph.D.

  • Center for Cancer Research
  • National Cancer Institute

RESEARCH SUMMARY

Dr. Khan is engaged in studies that focus on the molecular, cellular, and clinical features of human genetic diseases such as xeroderma pigmentosum, a cancer-prone recessive disease, and trichothiodystrophy, a multi-system disorder. The aim is to define the molecular defects associated with these diseases. These studies have revealed the significance of DNA repair in protection against cancer, neurological abnormalities and developmental defects. A more in-depth understanding of the pathophysiology of these diseases may lead to new strategies for therapeutic intervention of these diseases in affected patients as well as in the general population.

Areas of Expertise

xeroderma pigmentosum

Publications

Selected Publications

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons

Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH.
Proc. Natl. Acad. Sci. U.S.A.. 110: 19483-8, 2013. [ Journal Article ]

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients

Khan SG, Yamanegi K, Zheng ZM, Boyle J, Imoto K, Oh KS, Baker CC, Gozukara E, Metin A, Kraemer KH.
Hum. Mutat.. 31: 167-75, 2010. [ Journal 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.
Nucleic Acids Res.. 30: 3624-31, 2002. [ Journal Article ]

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients

Masaki T, Wang Y, Digiovanna JJ, Khan SG, Raffeld M, Beltaifa S, Hornyak TJ, Darling TN, Lee CC, Kraemer KH.
Pigment Cell Melanoma Res. 27: 454-64, 2014. [ Journal Article ]

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

Zhou X, Khan SG, Tamura D, Ueda T, Boyle J, Compe E, Egly JM, DiGiovanna JJ, Kraemer KH.
Eur. J. Hum. Genet.. 21: 831-7, 2013. [ Journal Article ]