Sikandar G. Khan

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome (2006)

Oh, Kyu-Seon, Khan, Sikandar G., Jaspers, N.G.J., Raams, Anja, Ueda, Takahiro, Lehmann, Alan, ...

Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have...

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome (2006)

Oh, Kyu-Seon, Khan, Sikandar G., Jaspers, N.G.J., Raams, Anja, Ueda, Takahiro, Lehmann, Alan, ...

Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have...

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients (2006)

Khan, Sikandar G., Oh, Kyu-Seon, Shahlavi, Tala, Ueda, Takahiro, Busch, David B., Inui, Hiroki, ...

Xeroderma pigmentosum group C (XP-C) is a rare autosomal recessive disorder. Patients with two mutant alleles of the XPC DNA repair gene have sun sensitivity and a 1000-fold increase in skin cancers....

Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study (2005)

Blankenburg, Sandra, König, Inke R., Moessner, Rotraut, Laspe, Petra, Thoms, Kai-Martin, Krueger, Ullrich, ...

Individuals with the rare DNA repair deficiency syndrome xeroderma pigmentosum (XP) are sun-sensitive and exhibit a 1000-fold increased risk for developing skin cancers including cutaneous melanoma....

Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients (2005)

Khan, Sikandar G., Oh, Kyu-Seon, Shahlavi, Tala, Ueda, Takahiro, Busch, David B., Inui, Hiroki, ...

Xeroderma pigmentosum group C (XP-C) is a rare autosomal recessive disorder. Patients with two mutant alleles of the XPC DNA repair gene have sun sensitivity and a 1000-fold increase in skin cancers....

Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients (2005)

Khan, Sikandar G., Oh, Kyu-Seon, Shahlavi, Tala, Ueda, Takahiro, Busch, David B., Inui, Hiroki, ...

Xeroderma pigmentosum group C (XP-C) is a rare autosomal recessive disorder. Patients with two mutant alleles of the XPC DNA repair gene have sun sensitivity and a 1000-fold increase in skin cancers....

Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study (2005)

Blankenburg, Sandra, König, Inke R., Moessner, Rotraut, Laspe, Petra, Thoms, Kai-Martin, Krueger, Ullrich, ...

Individuals with the rare DNA repair deficiency syndrome xeroderma pigmentosum (XP) are sensitive to the sun and exhibit a 1000-fold increased risk for developing skin cancers, including cutaneous...

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 (2004)

Khan, Sikandar G., Metin, Ahmet, Gozukara, Engin, Inui, Hiroki, Shahlavi, Tala, Muniz-Medina, Vanessa, ...

The lariat branch point sequence (BPS) is crucial for splicing of human nuclear pre-mRNA yet BPS mutations have infrequently been reported to cause human disease. Using an inverse RT–PCR technique...

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 (2003)

Khan, Sikandar G., Metin, Ahmet, Gozukara, Engin, Inui, Hiroki, Shahlavi, Tala, Muniz-Medina, Vanessa, ...

The lariat branch point sequence (BPS) is crucial for splicing of human nuclear pre-mRNA yet BPS mutations have infrequently been reported to cause human disease. Using an inverse RT-PCR technique we...

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 (2003)

Khan, Sikandar G., Metin, Ahmet, Gozukara, Engin, Inui, Hiroki, Shahlavi, Tala, Muniz-Medina, Vanessa, ...

The lariat branch point sequence (BPS) is crucial for splicing of human nuclear pre-mRNA yet BPS mutations have infrequently been reported to cause human disease. Using an inverse RT-PCR technique we...

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 (2002)

Khan, Sikandar G., Muniz-Medina, Vanessa, Shahlavi, Tala, Baker, Carl C., Inui, Hiroki, Ueda, Takahiro, ...

XPC DNA repair gene mutations result in the cancer‐prone disorder xeroderma pigmentosum. The XPC gene spans 33 kb and has 16 exons (82–882 bp) and 15 introns (0.08–5.4 kb). A 1.6 kb intron...

The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms (2001)

Emmert, Steffen, Schneider, Thomas D., Khan, Sikandar G., Kraemer, Kenneth H.

Defects in the XPG DNA repair endonuclease gene can result in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP–Cockayne syndrome complex. While the XPG cDNA sequence was known,...

A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism (2000)

Khan, Sikandar G., Metter, E.Jeffrey, Tarone, Robert E., Bohr, Vilhelm A., Grossman, Lawrence, Hedayati, Mohammad, ...

We found a common biallelic polymorphism (PAT) in the xeroderma pigmentosum complementation group C (XPC) DNA repair gene consisting of an insertion of 83 bases of A and T [poly(AT)] and a...

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

Emmert, Steffen, Kobayashi, Nobuhiko, Khan, Sikandar G., Kraemer, Kenneth H.

We investigated the contribution of the xeroderma pigmentosum group C (XPC) gene to DNA repair. We stably transfected XPC cells (XP4PA-SV-EB) with XPC cDNA and selected a partially corrected...

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

Emmert, Steffen, Schneider, Thomas D., Khan, Sikandar G., Kraemer, Kenneth H.

Defects in the XPG DNA repair endonuclease gene can result in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP–Cockayne syndrome complex. While the XPG cDNA sequence was known,...

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, Sikandar G., Muniz-Medina, Vanessa, Shahlavi, Tala, Baker, Carl C., Inui, Hiroki, Ueda, Takahiro, ...

XPC DNA repair gene mutations result in the cancer-prone disorder xeroderma pigmentosum. The XPC gene spans 33 kb and has 16 exons (82–882 bp) and 15 introns (0.08–5.4 kb). A 1.6 kb intron was...

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

Emmert, Steffen, Kobayashi, Nobuhiko, Khan, Sikandar G., Kraemer, Kenneth H.

We investigated the contribution of the xeroderma pigmentosum group C (XPC) gene to DNA repair. We stably transfected XPC cells (XP4PA-SV-EB) with XPC cDNA and selected a partially corrected...

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

Emmert, Steffen, Schneider, Thomas D., Khan, Sikandar G., Kraemer, Kenneth H.

Defects in the XPG DNA repair endonuclease gene can result in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP–Cockayne syndrome complex. While the XPG cDNA sequence was known,...

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, Sikandar G., Muniz-Medina, Vanessa, Shahlavi, Tala, Baker, Carl C., Inui, Hiroki, Ueda, Takahiro, ...

XPC DNA repair gene mutations result in the cancer-prone disorder xeroderma pigmentosum. The XPC gene spans 33 kb and has 16 exons (82–882 bp) and 15 introns (0.08–5.4 kb). A 1.6 kb intron was...

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Wang, Yun, DiGiovanna, John J., Stern, Jere B., Hornyak, Thomas J., Raffeld, Mark, Khan, Sikandar G., ...

To look for a direct role of ultraviolet radiation (UV) exposure in cutaneous melanoma induction, we studied xeroderma pigmentosum (XP) patients who have defective DNA repair resulting in a 1000-fold...