Search Results - "Jaspers, N G"

The Structure-Specific Endonuclease Ercc1-Xpf Is Required To Resolve DNA Interstrand Cross-Link-Induced Double-Strand Breaks by Niedernhofer, Laura J., Odijk, Hanny, Budzowska, Magda, van Drunen, Ellen, Maas, Alex, Theil, Arjan F., de Wit, Jan, Jaspers, N. G. J., Beverloo, H. Berna, Hoeijmakers, Jan H. J., Kanaar, Roland

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A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase by Savitsky, Kinneret, Bar-Shira, Anat, Gilad, Shlomit, Rotman, Galit, Ziv, Yael, Vanagaite, Lina, Tagle, Danilo A., Smith, Sara, Uziel, Tamar, Sfez, Sharon, Ashkenazi, Maya, Pecker, Iris, Frydman, Moshe, Harnik, Reli, Patanjali, Sankhavaram R., Simmons, Andrew, Clines, Gregory A., Sartiel, Adam, Gatti, Richard A., Chessa, Luciana, Sanal, Ozden, Lavin, Martin F., Jaspers, N. G. J., A. Malcolm R. Taylor, Arlett, Colin F., Miki, Toru, Weissman, Sherman M., Lovett, Michael, Collins, Francis S., Shiloh, Yosef

“…A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is…”
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Narrowband ultraviolet B inhibits innate cytosolic double-stranded RNA receptors in psoriatic skin and keratinocytes by Rácz, E., Prens, E.P., Kant, M., Florencia, E., Jaspers, N.G., Laman, J.D., de Ridder, D., van der Fits, L.

“…Summary Background  The mode of action of narrowband ultraviolet B (NB‐UVB) therapy in clearing psoriasis is incompletely understood, and in vivo studies at…”
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Predominance of Null Mutations in Ataxia-Telangiectasia by Gilad, Shlomit, Khosravi, Rami, Shkedy, Dganit, Uziel, Tamar, Ziv, Yael, Savitsky, Kinneret, Rotman, Galit, Smith, Sara, Chessa, Luciana, Jorgensen, Timothy J., Harnik, Reli, Frydman, Moshe, Sanal, Ozden, Portnoi, Sima, Goldwicz, Zipora, Jaspers, N. G. J., Gatti, Richard A., Lenoir, Gilbert, Lavin, Martin F., Tatsumi, Kouichi, Wegner, Rolf D., Shiloh, Yosef, Bar-Shira, Anat

“…Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity…”
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A case of Rombo syndrome by Van Steensel, M.A.M., Jaspers, N.G.J., Steijlen, P.M.

“…Rombo syndrome is a rare entity characterized by the presence of atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema and a…”
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Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome by Oh, Kyu-Seon, Khan, Sikandar G., Jaspers, N.G.J., Raams, Anja, Ueda, Takahiro, Lehmann, Alan, Friedmann, Peter S., Emmert, Steffen, Gratchev, Alexi, Lachlan, Katherine, Lucassan, Anneke, Baker, Carl C., Kraemer, Kenneth H.

“…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…”
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ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population by Broeks, A, de Klein, A, Floore, AN, Muijtjens, M, Kleijer, WJ, Jaspers, NG, van 't Veer, LJ

“…Germline mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia‐telangiectasia (A‐T). In our study, we have determined the ATM…”
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Neurological symptoms and natural course of xeroderma pigmentosum by Anttinen, Anu, Koulu, Leena, Nikoskelainen, Eeva, Portin, Raija, Kurki, Timo, Erkinjuntti, Matti, Jaspers, Nicolaas G. J., Raams, Anja, Green, Michael H. L., Lehmann, Alan R., Wing, Jonathan F., Arlett, Colin F., Marttila, Reijo J.

“…We have prospectively followed 16 Finnish xeroderma pigmentosum (XP) patients for up to 23 years. Seven patients were assigned by complementation analysis to…”
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ERCC6 founder mutation identified in Finnish patients with COFS syndrome by Jaakkola, E, Mustonen, A, Olsen, P, Miettinen, S, Savuoja, T, Raams, A, Jaspers, NGJ, Shao, H, Wu, BL, Ignatius, J

“…Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NGJ, Shao H, Wu BL, Ignatius J. ERCC6 founder mutation identified in Finnish patients…”
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DNA repair genes, enzymes, patients, and mouse models by Jaspers, N G

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Genetic Heterogeneity in Ataxia-Telangiectasia Studied by Cell Fusion by Jaspers, N. G. J., Bootsma, D.

“…The effect of x-rays on the rate of semiconservative DNA replication was investigated by autoradiography in single cells obtained from normal individuals and…”
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Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F by Vuuren, A.J., Appeldoorn, E., Odijk, H., Yasui, A., Jaspers, N.G., Bootsma, D., Hoeijmakers, J.H.

“…Nucleotide excision repair (NER), one of the major cellular DNA repair systems, removes a wide range of lesions in a multi‐enzyme reaction. In man, a NER…”
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Ataxia-telangiectasia : linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome by ZIV, Y, FRYDMAN, M, BOROCHOWITZ, Z, LATHROP, M, GATTI, R. A, SHILOH, Y, LANGE, E, ZELNIK, N, ROTMAN, G, JULIER, C, JASPERS, N. G. J, DAGAN, Y, ABELIOVICZ, D, DAR, H

“…Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation…”
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Localization of an ataxia-telangiectasia gene to chromosome 11q22-23 by Gatti, Richard A, Berkel, Izzet, Boder, Elena, Braedt, Gary, Charmley, Patrick, Concannon, Patrick, Ersoy, Fugen, Foroud, Tatiana, Jaspers, Nicholas G. J, Lange, Kenneth, Lathrop, G. Mark, Leppert, Mark, Nakamura, Yusuke, O'Connell, Peter, Paterson, Malcolm, Salser, Winston, Sanal, Ozden, Silver, Jack, Sparkes, Robert S, Susi, Ellen, Weeks, Daniel E, Wei, Shan, White, Ray, Yoder, Freda

“…Ataxia-telangiectasia (AT) is a human autosomal recessive disorder of childhood characterized by: (1) progressive cerebellar ataxia with degeneration of…”
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Xeroderma pigmentosum complementation group G associated with Cockayne syndrome by VERMEULEN, W, JAEKEN, J, JASPERS, N. G. J, BOOTSMA, D, HOEIJMAKERS, J. H. J

“…Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two rare inherited disorders with a clinical and cellular hypersensitivity to the UV component of the…”
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Homozygous R788W Point Mutation in the XPF Gene of a Patient with Xeroderma Pigmentosum and Late-Onset Neurologic Disease by Sijbers, Anneke M., van Voorst Vader, Pieter C., Snoek, Jos W., Raams, Anja, Jaspers, Nicolaas G.J., Kleijer, Wim J.

“…The second Caucasian xeroderma pigmentosum patient (XP42RO) belonging to complementation group F (XP-F) is described. Mild ocular photophobia was present from…”
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Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH) by Vuuren, A.J., Vermeulen, W., Ma, L., Weeda, G., Appeldoorn, E., Jaspers, N.G., Eb, A.J., Bootsma, D., Hoeijmakers, J.H., Humbert, S.

“…ERCC3 was initially identified as a gene correcting the nucleotide excision repair (NER) defect of xeroderma pigmentosum complementation group B (XP‐B). The…”
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Inhibition of DNA synthesis by ionizing radiation by Jaspers, N G, Zdzienicka, M Z

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Clones of normal keratinocytes and a variety of simultaneously present epidermal neoplastic lesions contain a multitude of p53 gene mutations in a xeroderma pigmentosum patient by WILLIAMS, C, PONTEN, F, PONTEN, J, AHMADIAN, A, REN, Z.-P, GAO LING, ROLLMAN, O, LJUNG, A, JASPERS, N. G. J, UHLEN, M, LUNDEBERG, J

“…A patient with xeroderma pigmentosum group C was extensively examined for mutations in the p53 gene in normal skin exposed to varying degrees of sunlight and…”
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Molecular mechanism of nucleotide excision repair by de Laat, W L, Jaspers, N G, Hoeijmakers, J H

“…From its very beginning, life has faced the fundamental problem that the form in which genetic information is stored is not chemically inert. DNA integrity is…”
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