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...
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...
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....
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....
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....
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....
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...
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...
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...
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...
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...
Broughton, Bernard C., Berneburg, Mark, Fawcett, Heather, Taylor, Elaine M., Arlett, Colin F., Nardo, Tiziana, ...
The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA helicase activity. TFIIH has two functions, in basal transcription and nucleotide excision repair....
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...
Levy, Dan D., Saijo, Masafumi, Tanaka, Kiyoji, Kraemer, Kenneth H.
The XPA gene was initially cloned based on the ability of its cDNA to improve survival of cells from xeroderma pigmentosum complementation group A (XP-A) patients following irradiation of the cells...
ProticC-SabyiC, Miroslava, Kraemer, Kenneth H.
We utilized a plasmid vector host cell reactivation assay to probe the biological functioning of DNA expression vectors and their encoded genes. We studied the effect of ultraviolet radiation or...
Kraemer, Kenneth H., Lee, Myung M., Scotto, Joseph
Xeroderma pigmentosum (XP), is a rare, autosomal recessive disease with sun sensitivity and multiple neoplasms in association with reduced DNA repair. As a reflection of the clinical consequences of...
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,...
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...
Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin
Birger, Yehudit, West, Katherine L., Postnikov, Yuri V., Lim, Jae-Hwan, Furusawa, Takashi, Wagner, James P., ...
We report that HMGN1, a nucleosome binding protein that destabilizes the higher-order chromatin structure, modulates the repair rate of ultraviolet light (UV)-induced DNA lesions in chromatin....
Melanin acts as a potent UVB photosensitizer to cause an atypical mode of cell death in murine skin
Takeuchi, Seiji, Zhang, Wengeng, Wakamatsu, Kazumasa, Ito, Shosuke, Hearing, Vincent J., Kraemer, Kenneth H., ...
Melanin protects the skin against DNA damage induced by direct absorption of sunlight's UV radiation. Yet, irradiating melanin in vitro or in cultured cells also generates active oxygen species such...
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,...
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...
Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin
Birger, Yehudit, West, Katherine L., Postnikov, Yuri V., Lim, Jae-Hwan, Furusawa, Takashi, Wagner, James P., ...
We report that HMGN1, a nucleosome binding protein that destabilizes the higher-order chromatin structure, modulates the repair rate of ultraviolet light (UV)-induced DNA lesions in chromatin....
Melanin acts as a potent UVB photosensitizer to cause an atypical mode of cell death in murine skin
Takeuchi, Seiji, Zhang, Wengeng, Wakamatsu, Kazumasa, Ito, Shosuke, Hearing, Vincent J., Kraemer, Kenneth H., ...
Melanin protects the skin against DNA damage induced by direct absorption of sunlight's UV radiation. Yet, irradiating melanin in vitro or in cultured cells also generates active oxygen species such...
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...