-
1
-
-
0032076190
-
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
-
Varon R., Vissinga C., Platzer M., Cerosaletti K.M., Chrzanowska K.H., Saar K., Beckmann G., Seemanova E., Cooper P.R., Nowak N.J., Stumm M., Weemaes C.M., Gatti R.A., Wilson R.K., Digweed M., Rosenthal A., Sperling K., Concannon P., Reis A. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998, 93:467-476.
-
(1998)
Cell
, vol.93
, pp. 467-476
-
-
Varon, R.1
Vissinga, C.2
Platzer, M.3
Cerosaletti, K.M.4
Chrzanowska, K.H.5
Saar, K.6
Beckmann, G.7
Seemanova, E.8
Cooper, P.R.9
Nowak, N.J.10
Stumm, M.11
Weemaes, C.M.12
Gatti, R.A.13
Wilson, R.K.14
Digweed, M.15
Rosenthal, A.16
Sperling, K.17
Concannon, P.18
Reis, A.19
-
2
-
-
84857427879
-
Nijmegen breakage syndrome (NBS)
-
Chrzanowska K.H., Gregorek H., Dembowska-Baginska B., Kalina M.A., Digweed M. Nijmegen breakage syndrome (NBS). Orphanet. J. Rare Dis. 2012, 7:13.
-
(2012)
Orphanet. J. Rare Dis.
, vol.7
, pp. 13
-
-
Chrzanowska, K.H.1
Gregorek, H.2
Dembowska-Baginska, B.3
Kalina, M.A.4
Digweed, M.5
-
3
-
-
77951877238
-
DNA-repair deficiency and cancer lessons from lymphoma
-
Wiley-VCH Verlag GmbH & Co. KGaA
-
Chrzanowska K.H., Digweed M., Sperling K., Seemanova E. DNA-repair deficiency and cancer lessons from lymphoma. Hereditary Tumors 2009, 377-391. Wiley-VCH Verlag GmbH & Co. KGaA.
-
(2009)
Hereditary Tumors
, pp. 377-391
-
-
Chrzanowska, K.H.1
Digweed, M.2
Sperling, K.3
Seemanova, E.4
-
4
-
-
38449120192
-
Cancer risk of heterozygotes with the NBN founder mutation
-
Seemanova E., Jarolim P., Seeman P., Varon R., Digweed M., Swift M., Sperling K. Cancer risk of heterozygotes with the NBN founder mutation. J. Natl. Cancer Inst. 2007, 99:1875-1880.
-
(2007)
J. Natl. Cancer Inst.
, vol.99
, pp. 1875-1880
-
-
Seemanova, E.1
Jarolim, P.2
Seeman, P.3
Varon, R.4
Digweed, M.5
Swift, M.6
Sperling, K.7
-
5
-
-
0035068565
-
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele
-
Maser R.S., Zinkel R., Petrini J.H. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet. 2001, 27:417-421.
-
(2001)
Nat. Genet.
, vol.27
, pp. 417-421
-
-
Maser, R.S.1
Zinkel, R.2
Petrini, J.H.3
-
6
-
-
19544389992
-
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability
-
Demuth I., Frappart P.O., Hildebrand G., Melchers A., Lobitz S., Stockl L., Varon R., Herceg Z., Sperling K., Wang Z.Q., Digweed M. An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum. Mol. Genet. 2004, 13:2385-2397.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2385-2397
-
-
Demuth, I.1
Frappart, P.O.2
Hildebrand, G.3
Melchers, A.4
Lobitz, S.5
Stockl, L.6
Varon, R.7
Herceg, Z.8
Sperling, K.9
Wang, Z.Q.10
Digweed, M.11
-
7
-
-
22144462810
-
Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models
-
Difilippantonio S., Celeste A., Fernandez-Capetillo O., Chen H.T., Reina San Martin B., Van Laethem F., Yang Y.P., Petukhova G.V., Eckhaus M., Feigenbaum L., Manova K., Kruhlak M., Camerini-Otero R.D., Sharan S., Nussenzweig M., Nussenzweig A. Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat. Cell Biol. 2005, 7:675-685.
-
(2005)
Nat. Cell Biol.
, vol.7
, pp. 675-685
-
-
Difilippantonio, S.1
Celeste, A.2
Fernandez-Capetillo, O.3
Chen, H.T.4
Reina San Martin, B.5
Van Laethem, F.6
Yang, Y.P.7
Petukhova, G.V.8
Eckhaus, M.9
Feigenbaum, L.10
Manova, K.11
Kruhlak, M.12
Camerini-Otero, R.D.13
Sharan, S.14
Nussenzweig, M.15
Nussenzweig, A.16
-
8
-
-
0242610857
-
Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis
-
Dumon-Jones V., Frappart P.O., Tong W.M., Sajithlal G., Hulla W., Schmid G., Herceg Z., Digweed M., Wang Z.Q. Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res. 2003, 63:7263-7269.
-
(2003)
Cancer Res.
, vol.63
, pp. 7263-7269
-
-
Dumon-Jones, V.1
Frappart, P.O.2
Tong, W.M.3
Sajithlal, G.4
Hulla, W.5
Schmid, G.6
Herceg, Z.7
Digweed, M.8
Wang, Z.Q.9
-
9
-
-
0035936554
-
Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
-
Zhu J., Petersen S., Tessarollo L., Nussenzweig A. Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr. Biol. 2001, 11:105-109.
-
(2001)
Curr. Biol.
, vol.11
, pp. 105-109
-
-
Zhu, J.1
Petersen, S.2
Tessarollo, L.3
Nussenzweig, A.4
-
10
-
-
36949021811
-
The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome
-
Demuth I., Digweed M. The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome. Oncogene 2007, 26:7792-7798.
-
(2007)
Oncogene
, vol.26
, pp. 7792-7798
-
-
Demuth, I.1
Digweed, M.2
-
11
-
-
0029098657
-
Spontaneous and X-ray-induced deletion mutations in a LacZ plasmid-based transgenic mouse model
-
Gossen J.A., Martus H.J., Wei J.Y., Vijg J. Spontaneous and X-ray-induced deletion mutations in a LacZ plasmid-based transgenic mouse model. Mutat. Res. 1995, 331:89-97.
-
(1995)
Mutat. Res.
, vol.331
, pp. 89-97
-
-
Gossen, J.A.1
Martus, H.J.2
Wei, J.Y.3
Vijg, J.4
-
12
-
-
0030033714
-
Evaluation of a plasmid-based transgenic mouse model for detecting in vivo mutations
-
Dolle M.E., Martus H.J., Gossen J.A., Boerrigter M.E., Vijg J. Evaluation of a plasmid-based transgenic mouse model for detecting in vivo mutations. Mutagenesis 1996, 11:111-118.
-
(1996)
Mutagenesis
, vol.11
, pp. 111-118
-
-
Dolle, M.E.1
Martus, H.J.2
Gossen, J.A.3
Boerrigter, M.E.4
Vijg, J.5
-
13
-
-
0032725343
-
Background mutations and polymorphisms in lacZ-plasmid transgenic mice
-
Dolle M.E., Snyder W.K., van Orsouw N.J., Vijg J. Background mutations and polymorphisms in lacZ-plasmid transgenic mice. Environ. Mol. Mutagen. 1999, 34:112-120.
-
(1999)
Environ. Mol. Mutagen.
, vol.34
, pp. 112-120
-
-
Dolle, M.E.1
Snyder, W.K.2
van Orsouw, N.J.3
Vijg, J.4
-
14
-
-
34250199327
-
A model system for analyzing somatic mutations in Drosophila melanogaster
-
Garcia A.M., Derventzi A., Busuttil R., Calder R.B., Perez E., Chadwell L., Dolle M.E., Lundell M., Vijg J. A model system for analyzing somatic mutations in Drosophila melanogaster. Nat. Methods 2007, 4:401-403.
-
(2007)
Nat. Methods
, vol.4
, pp. 401-403
-
-
Garcia, A.M.1
Derventzi, A.2
Busuttil, R.3
Calder, R.B.4
Perez, E.5
Chadwell, L.6
Dolle, M.E.7
Lundell, M.8
Vijg, J.9
-
15
-
-
84868569262
-
The comet assay: a sensitive genotoxicity test for the detection of DNA damage and repair
-
Speit G., Rothfuss A. The comet assay: a sensitive genotoxicity test for the detection of DNA damage and repair. Methods Mol. Biol. 2012, 920:79-90.
-
(2012)
Methods Mol. Biol.
, vol.920
, pp. 79-90
-
-
Speit, G.1
Rothfuss, A.2
-
16
-
-
0037427860
-
A cross-platform public domain PC image-analysis program for the comet assay
-
Konca K., Lankoff A., Banasik A., Lisowska H., Kuszewski T., Gozdz S., Koza Z., Wojcik A. A cross-platform public domain PC image-analysis program for the comet assay. Mutat. Res. 2003, 534:15-20.
-
(2003)
Mutat. Res.
, vol.534
, pp. 15-20
-
-
Konca, K.1
Lankoff, A.2
Banasik, A.3
Lisowska, H.4
Kuszewski, T.5
Gozdz, S.6
Koza, Z.7
Wojcik, A.8
-
17
-
-
0030995733
-
The comet assay: what can it really tell us?
-
Collins A.R., Dobson V.L., Dusinska M., Kennedy G., Stetina R. The comet assay: what can it really tell us?. Mutat. Res. 1997, 375:183-193.
-
(1997)
Mutat. Res.
, vol.375
, pp. 183-193
-
-
Collins, A.R.1
Dobson, V.L.2
Dusinska, M.3
Kennedy, G.4
Stetina, R.5
-
18
-
-
0021946340
-
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder
-
Seemanova E., Passarge E., Beneskova D., Houstek J., Kasal P., Sevcikova M. Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am. J. Med. Genet. 1985, 20:639-648.
-
(1985)
Am. J. Med. Genet.
, vol.20
, pp. 639-648
-
-
Seemanova, E.1
Passarge, E.2
Beneskova, D.3
Houstek, J.4
Kasal, P.5
Sevcikova, M.6
-
19
-
-
55149105227
-
Effect of Ku80 deficiency on mutation frequencies and spectra at a LacZ reporter locus in mouse tissues and cells
-
Busuttil R.A., Munoz D.P., Garcia A.M., Rodier F., Kim W.H., Suh Y., Hasty P., Campisi J., Vijg J. Effect of Ku80 deficiency on mutation frequencies and spectra at a LacZ reporter locus in mouse tissues and cells. PLoS One 2008, 3:e3458.
-
(2008)
PLoS One
, vol.3
-
-
Busuttil, R.A.1
Munoz, D.P.2
Garcia, A.M.3
Rodier, F.4
Kim, W.H.5
Suh, Y.6
Hasty, P.7
Campisi, J.8
Vijg, J.9
-
20
-
-
42049112761
-
Mutation frequencies and spectra in DNA polymerase eta-deficient mice
-
Busuttil R.A., Lin Q., Stambrook P.J., Kucherlapati R., Vijg J. Mutation frequencies and spectra in DNA polymerase eta-deficient mice. Cancer Res. 2008, 68:2081-2084.
-
(2008)
Cancer Res.
, vol.68
, pp. 2081-2084
-
-
Busuttil, R.A.1
Lin, Q.2
Stambrook, P.J.3
Kucherlapati, R.4
Vijg, J.5
-
21
-
-
0037057327
-
Elevated mutant frequencies and predominance of G:C to A:T transition mutations in Msh6(-/-) small intestinal epithelium
-
Mark S.C., Sandercock L.E., Luchman H.A., Baross A., Edelmann W., Jirik F.R. Elevated mutant frequencies and predominance of G:C to A:T transition mutations in Msh6(-/-) small intestinal epithelium. Oncogene 2002, 21:7126-7130.
-
(2002)
Oncogene
, vol.21
, pp. 7126-7130
-
-
Mark, S.C.1
Sandercock, L.E.2
Luchman, H.A.3
Baross, A.4
Edelmann, W.5
Jirik, F.R.6
-
22
-
-
0033008552
-
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts
-
Kraakman-van der Zwet M., Overkamp W.J., Friedl A.A., Klein B., Verhaegh G.W., Jaspers N.G., Midro A.T., Eckardt-Schupp F., Lohman P.H., Zdzienicka M.Z. Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts. Mutat. Res. 1999, 434:17-27.
-
(1999)
Mutat. Res.
, vol.434
, pp. 17-27
-
-
Kraakman-van der Zwet, M.1
Overkamp, W.J.2
Friedl, A.A.3
Klein, B.4
Verhaegh, G.W.5
Jaspers, N.G.6
Midro, A.T.7
Eckardt-Schupp, F.8
Lohman, P.H.9
Zdzienicka, M.Z.10
-
23
-
-
27844576828
-
Huge differences in cellular radiosensitivity due to only very small variations in double-strand break repair capacity
-
Kasten-Pisula U., Tastan H., Dikomey E. Huge differences in cellular radiosensitivity due to only very small variations in double-strand break repair capacity. Int. J. Radiat. Biol. 2005, 81:409-419.
-
(2005)
Int. J. Radiat. Biol.
, vol.81
, pp. 409-419
-
-
Kasten-Pisula, U.1
Tastan, H.2
Dikomey, E.3
-
24
-
-
0028984780
-
Frequent T:A→G:C transversions in X-irradiated mouse cells
-
Yuan J., Yeasky T.M., Rhee M.C., Glazer P.M. Frequent T:A→G:C transversions in X-irradiated mouse cells. Carcinogenesis 1995, 16:83-88.
-
(1995)
Carcinogenesis
, vol.16
, pp. 83-88
-
-
Yuan, J.1
Yeasky, T.M.2
Rhee, M.C.3
Glazer, P.M.4
-
25
-
-
0027256069
-
Sequence analysis of X-ray-induced mutations occurring in a cDNA of the human hprt gene integrated into mammalian chromosomal DNA
-
Kimura H., Higuchi H., Iyehara-Ogawa H., Kato T. Sequence analysis of X-ray-induced mutations occurring in a cDNA of the human hprt gene integrated into mammalian chromosomal DNA. Radiat. Res. 1993, 134:202-208.
-
(1993)
Radiat. Res.
, vol.134
, pp. 202-208
-
-
Kimura, H.1
Higuchi, H.2
Iyehara-Ogawa, H.3
Kato, T.4
-
26
-
-
0035039434
-
Possible cause of G-C→C-G transversion mutation by guanine oxidation product, imidazolone
-
Kino K., Sugiyama H. Possible cause of G-C→C-G transversion mutation by guanine oxidation product, imidazolone. Chem. Biol. 2001, 8:369-378.
-
(2001)
Chem. Biol.
, vol.8
, pp. 369-378
-
-
Kino, K.1
Sugiyama, H.2
-
28
-
-
0031938328
-
Influence of nucleotide excision repair on N-hydroxy-2-acetylaminofluorene-induced mutagenesis studied in lambda lacZ-transgenic mice
-
Frijhoff A.F., Krul C.A., de Vries A., Kelders M.C., Weeda G., van Steeg H., Baan R.A. Influence of nucleotide excision repair on N-hydroxy-2-acetylaminofluorene-induced mutagenesis studied in lambda lacZ-transgenic mice. Environ. Mol. Mutagen. 1998, 31:41-47.
-
(1998)
Environ. Mol. Mutagen.
, vol.31
, pp. 41-47
-
-
Frijhoff, A.F.1
Krul, C.A.2
de Vries, A.3
Kelders, M.C.4
Weeda, G.5
van Steeg, H.6
Baan, R.A.7
-
29
-
-
0035253196
-
Elevated mutant frequencies and increased C:G→T:A transitions in Mlh1-/- versus Pms2-/- murine small intestinal epithelial cells
-
Baross-Francis A., Makhani N., Liskay R.M., Jirik F.R. Elevated mutant frequencies and increased C:G→T:A transitions in Mlh1-/- versus Pms2-/- murine small intestinal epithelial cells. Oncogene 2001, 20:619-625.
-
(2001)
Oncogene
, vol.20
, pp. 619-625
-
-
Baross-Francis, A.1
Makhani, N.2
Liskay, R.M.3
Jirik, F.R.4
-
30
-
-
0034655991
-
BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
-
Wang Y., Cortez D., Yazdi P., Neff N., Elledge S.J., Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 2000, 14:927-939.
-
(2000)
Genes Dev.
, vol.14
, pp. 927-939
-
-
Wang, Y.1
Cortez, D.2
Yazdi, P.3
Neff, N.4
Elledge, S.J.5
Qin, J.6
-
31
-
-
33845214070
-
The Mre11/Rad50/Nbs1 complex interacts with the mismatch repair system and contributes to temozolomide-induced G2 arrest and cytotoxicity
-
Mirzoeva O.K., Kawaguchi T., Pieper R.O. The Mre11/Rad50/Nbs1 complex interacts with the mismatch repair system and contributes to temozolomide-induced G2 arrest and cytotoxicity. Mol. Cancer Ther. 2006, 5:2757-2766.
-
(2006)
Mol. Cancer Ther.
, vol.5
, pp. 2757-2766
-
-
Mirzoeva, O.K.1
Kawaguchi, T.2
Pieper, R.O.3
-
32
-
-
43849107802
-
Rapid induction of chromatin-associated DNA mismatch repair proteins after MNNG treatment
-
Schroering A.G., Williams K.J. Rapid induction of chromatin-associated DNA mismatch repair proteins after MNNG treatment. DNA Repair (Amst.) 2008, 7:951-969.
-
(2008)
DNA Repair (Amst.)
, vol.7
, pp. 951-969
-
-
Schroering, A.G.1
Williams, K.J.2
-
33
-
-
33947096348
-
Enhanced CD95-mediated apoptosis contributes to radiation hypersensitivity of NBS lymphoblasts
-
Sagan D., Mortl S., Muller I., Eckardt-Schupp F., Eichholtz-Wirth H. Enhanced CD95-mediated apoptosis contributes to radiation hypersensitivity of NBS lymphoblasts. Apoptosis 2007, 12:753-767.
-
(2007)
Apoptosis
, vol.12
, pp. 753-767
-
-
Sagan, D.1
Mortl, S.2
Muller, I.3
Eckardt-Schupp, F.4
Eichholtz-Wirth, H.5
-
34
-
-
84862840653
-
Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis
-
Wan R., Crowe D.L. Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis. Int. J. Oncol. 2012, 41:345-352.
-
(2012)
Int. J. Oncol.
, vol.41
, pp. 345-352
-
-
Wan, R.1
Crowe, D.L.2
-
35
-
-
18844394291
-
An essential function for NBS1 in the prevention of ataxia and cerebellar defects
-
Frappart P.O., Tong W.M., Demuth I., Radovanovic I., Herceg Z., Aguzzi A., Digweed M., Wang Z.Q. An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Nat. Med. 2005, 11:538-544.
-
(2005)
Nat. Med.
, vol.11
, pp. 538-544
-
-
Frappart, P.O.1
Tong, W.M.2
Demuth, I.3
Radovanovic, I.4
Herceg, Z.5
Aguzzi, A.6
Digweed, M.7
Wang, Z.Q.8
-
36
-
-
38349052915
-
Nijmegen Breakage Syndrome mutations and risk of breast cancer
-
Bogdanova N., Feshchenko S., Schurmann P., Waltes R., Wieland B., Hillemanns P., Rogov Y.I., Dammann O., Bremer M., Karstens J.H., Sohn C., Varon R., Dork T. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int. J. Cancer 2008, 122:802-806.
-
(2008)
Int. J. Cancer
, vol.122
, pp. 802-806
-
-
Bogdanova, N.1
Feshchenko, S.2
Schurmann, P.3
Waltes, R.4
Wieland, B.5
Hillemanns, P.6
Rogov, Y.I.7
Dammann, O.8
Bremer, M.9
Karstens, J.H.10
Sohn, C.11
Varon, R.12
Dork, T.13
-
37
-
-
3042818662
-
Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland
-
Steffen J., Varon R., Mosor M., Maneva G., Maurer M., Stumm M., Nowakowska D., Rubach M., Kosakowska E., Ruka W., Nowecki Z., Rutkowski P., Demkow T., Sadowska M., Bidzinski M., Gawrychowski K., Sperling K. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int. J. Cancer 2004, 111:67-71.
-
(2004)
Int. J. Cancer
, vol.111
, pp. 67-71
-
-
Steffen, J.1
Varon, R.2
Mosor, M.3
Maneva, G.4
Maurer, M.5
Stumm, M.6
Nowakowska, D.7
Rubach, M.8
Kosakowska, E.9
Ruka, W.10
Nowecki, Z.11
Rutkowski, P.12
Demkow, T.13
Sadowska, M.14
Bidzinski, M.15
Gawrychowski, K.16
Sperling, K.17
-
38
-
-
33746130359
-
Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia
-
Mosor M., Ziolkowska I., Pernak-Schwarz M., Januszkiewicz-Lewandowska D., Nowak J. Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia. Leukemia 2006, 20:1454-1456.
-
(2006)
Leukemia
, vol.20
, pp. 1454-1456
-
-
Mosor, M.1
Ziolkowska, I.2
Pernak-Schwarz, M.3
Januszkiewicz-Lewandowska, D.4
Nowak, J.5
|