Search Results - "Kraemer, KH"

NRAS Hypermutability in Familial Melanoma With CDKN2A Mutations—Cause and Effect? by Kraemer, Kenneth H

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Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes by TERUNUMA, A, YE, J, EMMERT, S, KHAN, S. G, KRAEMER, K. H, VOGEL, J. C

“…Various oligonucleotide (ODN)-based approaches have been proposed for their ability to correct mutated genes at the normal chromosomal locations. However, the…”
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Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development by Moslehi, R, Signore, C, Tamura, D, Mills, JL, DiGiovanna, JJ, Tucker, MA, Troendle, J, Ueda, T, Boyle, J, Khan, SG, Oh, K-S, Goldstein, AM, Kraemer, KH

“…Moslehi R, Signore C, Tamura D, Mills JL, DiGiovanna JJ, Tucker MA, Troendle J, Ueda T, Boyle J, Khan SG, Oh K‐S, Goldstein AM, Kraemer KH. Adverse effects of…”
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Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship by Kraemer, K.H, Patronas, N.J, Schiffmann, R, Brooks, B.P, Tamura, D, DiGiovanna, J.J

“…Abstract Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA…”
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Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers by Kraemer, K.H., Tamura, D., Khan, S.G.

“…Linked Article: Salomon et al. Br J Dermatol 2018; 178:1199–1203…”
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Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells by FURUTA, Takahisa, UEDA, Takahiro, AUNE, Gregory, SARASIN, Alain, KRAEMER, Kenneth H, POMMIER, Yves

“…The resistance of tumor cells to chemotherapeutic agents, such as cisplatin,is an important problem to be solved in cancer chemotherapy. One of the mechanisms…”
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DNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulin variable genes by Gearhart, Patricia J, Zeng, Xianmin, Winter, David B, Kasmer, Cynthia, Kraemer, Kenneth H, Lehmann, Alan R

“…To determine whether DNA polymerase eta plays a role in the hypermutation of immunoglobulin variable genes, we examined the frequency and pattern of…”
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Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair by Pommier, Yves, Takebayashi, Yuji, Pourquier, Philippe, Zimonjic, Drazen B, Nakayama, Kentaro, Emmert, Steffen, Ueda, Takahiro, Urasaki, Yoshimasa, Kanzaki, Atsuko, Akiyama, Shin-ichi, Popescu, Nicholas, Kraemer, Kenneth H

“…While investigating the novel anticancer drug ecteinascidin 743 (Et743), a natural marine product isolated from the Caribbean sea squirt, we discovered a new…”
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Sunlight and Skin Cancer: Another Link Revealed by Kraemer, Kenneth H.

“…Kraemer comments on an article that provided a new insight into the link between sun exposure and nonmelanoma skin cancer between the time of initial exposure…”
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Cockayne syndrome and xeroderma pigmentosum : DNA repair disorders with overlaps and paradoxes by RAPIN, I, LINDENBAUM, Y, DICKSON, D. W, KRAEMER, K. H, ROBBINS, J. H

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Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case–control study by Blankenburg, Sandra, König, Inke R., Moessner, Rotraut, Laspe, Petra, Thoms, Kai-Martin, Krueger, Ullrich, Khan, Sikandar G., Westphal, Goetz, Berking, Carola, Volkenandt, Matthias, Reich, Kristian, Neumann, Christine, Ziegler, Andreas, Kraemer, Kenneth H., Emmert, Steffen

“…Individuals with the rare DNA repair deficiency syndrome xeroderma pigmentosum (XP) are sensitive to the sun and exhibit a 1000-fold increased risk for…”
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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 by Khan, Sikandar G., Muniz‐Medina, Vanessa, Shahlavi, Tala, Baker, Carl C., Inui, Hiroki, Ueda, Takahiro, Emmert, Steffen, Schneider, Thomas D., Kraemer, Kenneth H.

“…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…”
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Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin by Birger, Yehudit, West, Katherine L., Postnikov, Yuri V., Lim, Jae-Hwan, Furusawa, Takashi, Wagner, James P., Laufer, Craig S., Kraemer, Kenneth H., Bustin, Michael

“…We report that HMGN1, a nucleosome binding protein that destabilizes the higher‐order chromatin structure, modulates the repair rate of ultraviolet light…”
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Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy by Liang, Christine, Kraemer, Kenneth H., Morris, Andrea, Schiffmann, Raphael, Price, Vera H., Menefee, Emory, DiGiovanna, John J.

“…Tiger tail banding under polarizing light microscopy and hair shaft abnormalities are associated with trichothiodystrophy (TTD), a rare disorder with a wide…”
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From proteomics to disease by Kraemer, Kenneth H

“…The nucleotide excision repair system is essential for repairing DNA damage caused by exposure to sunlight. Now, parallel studies in yeast and individuals with…”
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XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms by Khan, Sikandar G., Oh, Kyu-Seon, Emmert, Steffen, Imoto, Kyoko, Tamura, Deborah, DiGiovanna, John J., Shahlavi, Tala, Armstrong, Najealicka, Baker, Carl C., Neuburg, Marcy, Zalewski, Chris, Brewer, Carmen, Wiggs, Edythe, Schiffmann, Raphael, Kraemer, Kenneth H.

“…Two unrelated xeroderma pigmentosum (XP) patients, with and without neurological abnormalities, respectively, had identical defects in the XPC DNA nucleotide…”
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Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage by Oh, Kyu-Seon, Imoto, Kyoko, Boyle, Jennifer, Khan, Sikandar G., Kraemer, Kenneth H.

“…The XPB DNA helicase, a subunit of the basal transcription factor TFIIH, is also involved in nucleotide excision repair (NER). We examined recruitment of NER…”
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An intronic poly (AT) polymorphism of the DNA repair gene XPC and risk of squamous cell carcinoma of the head and neck : A case-control study by HONGBING SHEN, STURGIS, Erich M, KRAEMER, Kenneth H, QINGYI WEI, KHAN, Sikandar G, YAWEI QIAO, SHAHLAVI, Tala, EICHER, Susan A, YIAOCHU XU, XINRU WANG, STROM, Sara S, SPITZ, Margaret R

“…Inherited polymorphisms of DNA repair genes may contribute to variations in DNA repair capacity and genetic susceptibility to cancer. In a hospital-based…”
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Xeroderma pigmentosum - bridging a gap between clinic and laboratory by Moriwaki, Shin-Ichi, Kraemer, Kenneth H.

“…Xeroderma pigmentosum (XP) is an autosomal recessive photosensitive disorder with an extremely high incidence of UV‐related skin cancers associated with…”
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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene by BROUGHTON, Bernard C, BERNEBURG, Mark, SARASIN, Alain, BOHNERT, Elisabeth, KRUTMANN, Jean, DAVIDSON, Rosemarie, KRAEMER, Kenneth H, LEHMANN, Alan R, FAWCETT, Heather, TAYLOR, Elaine M, ARLETT, Colin F, NARDO, Tiziana, STEFANINI, Miria, MENEFEE, Emory, PRICE, Vera H, QUEILLE, Sophie

“…The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA helicase activity. TFIIH has two functions, in basal…”
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