-
1
-
-
84857427879
-
Nijmegen breakage syndrome (NBS
-
Chrzanowska, KH, Gregorek, H, Dembowska-Baginska, B, Kalina, MA and Digweed, M (2012). Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis 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
-
2
-
-
0032076190
-
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
-
Varon, R, Vissinga, C, Platzer, M, Cerosaletti, KM, Chrzanowska, KH, Saar, K., et al. (1998). Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 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
-
3
-
-
0032076248
-
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
-
Carney, JP, Maser, RS, Olivares, H, Davis, EM, Le Beau, M, Yates, JR 3rd., et al. (1998). The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486
-
(1998)
Cell
, vol.93
, pp. 477-486
-
-
Carney, J.P.1
Maser, R.S.2
Olivares, H.3
Davis, E.M.4
Le Beau, M.5
Yates, J.R.6
-
4
-
-
59449104796
-
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)
-
Dembowska-Baginska, B, Perek, D, Brozyna, A, Wakulinska, A, Olczak-Kowalczyk, D, Gladkowska-Dura, M., et al. (2009). Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 52: 186-190
-
(2009)
Pediatr Blood Cancer
, vol.52
, pp. 186-190
-
-
Dembowska-Baginska, B.1
Perek, D.2
Brozyna, A.3
Wakulinska, A.4
Olczak-Kowalczyk, D.5
Gladkowska-Dura, M.6
-
5
-
-
0035068565
-
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele
-
Maser, RS, Zinkel, R and Petrini, JH (2001). An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat Genet 27: 417-421
-
(2001)
Nat Genet
, vol.27
, pp. 417-421
-
-
Maser, R.S.1
Zinkel, R.2
Petrini, J.H.3
-
6
-
-
0242610857
-
Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis
-
Dumon-Jones, V, Frappart, PO, Tong, WM, Sajithlal, G, Hulla, W, Schmid, G., et al. (2003). Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res 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
-
7
-
-
0035936554
-
Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
-
Zhu, J, Petersen, S, Tessarollo, L and Nussenzweig, A (2001). Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr Biol 11: 105-109
-
(2001)
Curr Biol
, vol.11
, pp. 105-109
-
-
Zhu, J.1
Petersen, S.2
Tessarollo, L.3
Nussenzweig, A.4
-
8
-
-
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, PO, Hildebrand, G, Melchers, A, Lobitz, S, Stöckl, L., et al. (2004). 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 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
Stöckl, L.6
-
9
-
-
22144462810
-
Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models
-
Difilippantonio, S, Celeste, A, Fernandez-Capetillo, O, Chen, HT, Reina San Martin, B, Van Laethem, F., et al. (2005). Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 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
-
10
-
-
0038364116
-
Chromosome instability and nibrin protein variants in NBS heterozygotes
-
Tanzanella, C, Antoccia, A, Spadoni, E, di Masi, A, Pecile, V, Demori, E., et al. (2003). Chromosome instability and nibrin protein variants in NBS heterozygotes. Eur J Hum Genet 11: 297-303
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 297-303
-
-
Tanzanella, C.1
Antoccia, A.2
Spadoni, E.3
Di Masi, A.4
Pecile, V.5
Demori, E.6
-
11
-
-
33644538562
-
Active role for nibrin in the kinetics of atm activation
-
Cerosaletti, K, Wright, J and Concannon, P (2006). Active role for nibrin in the kinetics of atm activation. Mol Cell Biol 26: 1691-1699
-
(2006)
Mol Cell Biol
, vol.26
, pp. 1691-1699
-
-
Cerosaletti, K.1
Wright, J.2
Concannon, P.3
-
12
-
-
18644367144
-
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain
-
Kobayashi, J, Tauchi, H, Sakamoto, S, Nakamura, A, Morishima, K, Matsuura, S., et al. (2002). NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. Curr Biol 12: 1846-1851
-
(2002)
Curr Biol
, vol.12
, pp. 1846-1851
-
-
Kobayashi, J.1
Tauchi, H.2
Sakamoto, S.3
Nakamura, A.4
Morishima, K.5
Matsuura, S.6
-
13
-
-
0034903925
-
Mre11 complex and DNA replication: Linkage to E2F and sites of DNA synthesis
-
Maser, RS, Mirzoeva, OK, Wells, J, Olivares, H, Williams, BR, Zinkel, RA., et al. (2001). Mre11 complex and DNA replication: linkage to E2F and sites of DNA synthesis. Mol Cell Biol 21: 6006-6016
-
(2001)
Mol Cell Biol
, vol.21
, pp. 6006-6016
-
-
Maser, R.S.1
Mirzoeva, O.K.2
Wells, J.3
Olivares, H.4
Williams, B.R.5
Zinkel, R.A.6
-
14
-
-
42449115711
-
Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin
-
Spycher, C, Miller, ES, Townsend, K, Pavic, L, Morrice, NA, Janscak, P., et al. (2008). Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin. J Cell Biol 181: 227-240
-
(2008)
J Cell Biol
, vol.181
, pp. 227-240
-
-
Spycher, C.1
Miller, E.S.2
Townsend, K.3
Pavic, L.4
Morrice, N.A.5
Janscak, P.6
-
15
-
-
70349472553
-
Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA doublestrand break processing and repair
-
Williams, RS, Dodson, GE, Limbo, O, Yamada, Y, Williams, JS, Guenther, G., et al. (2009). Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA doublestrand break processing and repair. Cell 139: 87-99
-
(2009)
Cell
, vol.139
, pp. 87-99
-
-
Williams, R.S.1
Dodson, G.E.2
Limbo, O.3
Yamada, Y.4
Williams, J.S.5
Guenther, G.6
-
16
-
-
0023036509
-
A new chromosome instability disorder
-
Maraschio, P, Peretti, D, Lambiase, S, Lo Curto, F, Caufin, D, Gargantini, L., et al. (1986). A new chromosome instability disorder. Clin Genet 30: 353-365
-
(1986)
Clin Genet
, vol.30
, pp. 353-365
-
-
Maraschio, P.1
Peretti, D.2
Lambiase, S.3
Lo Curto, F.4
Caufin, D.5
Gargantini, L.6
-
17
-
-
33144484246
-
Mild Nijmegen breakage syndrome phenotype due to alternative splicing
-
Varon, R, Dutrannoy, V, Weikert, G, Tanzarella, C, Antoccia, A, Stöckl, L., et al. (2006). Mild Nijmegen breakage syndrome phenotype due to alternative splicing. Hum Mol Genet 15: 679-689
-
(2006)
Hum Mol Genet
, vol.15
, pp. 679-689
-
-
Varon, R.1
Dutrannoy, V.2
Weikert, G.3
Tanzarella, C.4
Antoccia, A.5
Stöckl, L.6
-
18
-
-
79953209722
-
Efficient in vivo manipulation of alternative pre-mRNA splicing events using antisense morpholinos in mice
-
Parra, MK, Gee, S, Mohandas, N and Conboy, JG (2011). Efficient in vivo manipulation of alternative pre-mRNA splicing events using antisense morpholinos in mice. J Biol Chem 286: 6033-6039
-
(2011)
J Biol Chem
, vol.286
, pp. 6033-6039
-
-
Parra, M.K.1
Gee, S.2
Mohandas, N.3
Conboy, J.G.4
-
19
-
-
84901830311
-
Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases
-
Veltrop, M and Aartsma-Rus, A (2014). Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases. Exp Cell Res 4827: 46-49
-
(2014)
Exp Cell Res
, vol.4827
, pp. 46-49
-
-
Veltrop, M.1
Aartsma-Rus, A.2
-
20
-
-
69949107887
-
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
-
Kinali, M, Arechavala-Gomeza, V, Feng, L, Cirak, S, Hunt, D, Adkin, C., et al. (2009). Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 8: 918-928
-
(2009)
Lancet Neurol
, vol.8
, pp. 918-928
-
-
Kinali, M.1
Arechavala-Gomeza, V.2
Feng, L.3
Cirak, S.4
Hunt, D.5
Adkin, C.6
-
21
-
-
84890805770
-
Eteplirsen for the treatment of Duchenne muscular dystrophy
-
Eteplirsen Study Group
-
Mendell, JR, Rodino-Klapac, LR, Sahenk, Z, Roush, K, Bird, L, Lowes, LP et al.; Eteplirsen Study Group. (2013). Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 74: 637-647
-
(2013)
Ann Neurol
, vol.74
, pp. 637-647
-
-
Mendell, J.R.1
Rodino-Klapac, L.R.2
Sahenk, Z.3
Roush, K.4
Bird, L.5
Lowes, L.P.6
-
22
-
-
84907991204
-
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): An exploratory, randomised, placebo-controlled phase 2 study
-
Voit, T, Topaloglu, H, Straub, V, Muntoni, F, Deconinck, N, Campion, G., et al. (2014). Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol 13: 987-996
-
(2014)
Lancet Neurol
, vol.13
, pp. 987-996
-
-
Voit, T.1
Topaloglu, H.2
Straub, V.3
Muntoni, F.4
Deconinck, N.5
Campion, G.6
-
23
-
-
84892491008
-
The essential function of the MRN complex in the resolution of endogenous replication intermediates
-
Bruhn, C, Zhou, ZW, Ai, H and Wang, ZQ (2014). The essential function of the MRN complex in the resolution of endogenous replication intermediates. Cell Rep 6: 182-195
-
(2014)
Cell Rep
, vol.6
, pp. 182-195
-
-
Bruhn, C.1
Zhou, Z.W.2
Ai, H.3
Wang, Z.Q.4
-
24
-
-
2642527155
-
SV40 T antigen interacts with Nbs1 to disrupt DNA replication control
-
Wu, X, Avni, D, Chiba, T, Yan, F, Zhao, Q, Lin, Y., et al. (2004). SV40 T antigen interacts with Nbs1 to disrupt DNA replication control. Genes Dev 18: 1305-1316
-
(2004)
Genes Dev
, vol.18
, pp. 1305-1316
-
-
Wu, X.1
Avni, D.2
Chiba, T.3
Yan, F.4
Zhao, Q.5
Lin, Y.6
-
25
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
Cartegni, L, Wang, J, Zhu, Z, Zhang, MQ and Krainer, AR (2003). ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 31: 3568-3571
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
26
-
-
33747891736
-
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
-
Smith, PJ, Zhang, C, Wang, J, Chew, SL, Zhang, MQ and Krainer, AR (2006). An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 15: 2490-2508
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2490-2508
-
-
Smith, P.J.1
Zhang, C.2
Wang, J.3
Chew, S.L.4
Zhang, M.Q.5
Krainer, A.R.6
-
27
-
-
69349087650
-
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
-
Lins, S, Kim, R, Krüger, L, Chrzanowska, KH, Seemanova, E and Digweed, M (2009). Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. Gene 447: 12-17
-
(2009)
Gene
, vol.447
, pp. 12-17
-
-
Lins, S.1
Kim, R.2
Krüger, L.3
Chrzanowska, K.H.4
Seemanova, E.5
Digweed, M.6
-
28
-
-
84875587226
-
Nijmegen breakage syndrome: The clearance pathway for mutant nibrin protein is allele specific
-
Salewsky, B, Wessendorf, P, Hirsch, D, Krenzlin, H and Digweed, M (2013). Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. Gene 519: 217-221
-
(2013)
Gene
, vol.519
, pp. 217-221
-
-
Salewsky, B.1
Wessendorf, P.2
Hirsch, D.3
Krenzlin, H.4
Digweed, M.5
-
29
-
-
58149339903
-
Vivo-Morpholinos: A non-peptide transporter delivers Morpholinos into a wide array of mouse tissues
-
passim
-
Morcos, PA, Li, Y and Jiang, S (2008). Vivo-Morpholinos: a non-peptide transporter delivers Morpholinos into a wide array of mouse tissues. Biotechniques 45: 613-4, 616, 618 passim
-
(2008)
Biotechniques
, vol.45
, pp. 613-618
-
-
Morcos, P.A.1
Li, Y.2
Jiang, S.3
-
30
-
-
84904726192
-
Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo
-
Wessendorf, P, Vijg, J, Nussenzweig, A and Digweed, M (2014). Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo. Mutat Res 769: 11-16
-
(2014)
Mutat Res
, vol.769
, pp. 11-16
-
-
Wessendorf, P.1
Vijg, J.2
Nussenzweig, A.3
Digweed, M.4
-
31
-
-
84921288028
-
Cancer etiology Variation in cancer risk among tissues can be explained by the number of stem cell divisions
-
Tomasetti, C and Vogelstein, B (2015). Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisions. Science 347: 78-81
-
(2015)
Science
, vol.347
, pp. 78-81
-
-
Tomasetti, C.1
Vogelstein, B.2
-
32
-
-
52949092763
-
Replication fork movement sets chromatin loop size and origin choice in mammalian cells
-
Courbet, S, Gay, S, Arnoult, N, Wronka, G, Anglana, M, Brison, O., et al. (2008). Replication fork movement sets chromatin loop size and origin choice in mammalian cells. Nature 455: 557-560
-
(2008)
Nature
, vol.455
, pp. 557-560
-
-
Courbet, S.1
Gay, S.2
Arnoult, N.3
Wronka, G.4
Anglana, M.5
Brison, O.6
-
33
-
-
37249025795
-
Dormant origins licensed by excess Mcm2-7 are required for human cells to survive replicative stress
-
Ge, XQ, Jackson, DA and Blow, JJ (2007). Dormant origins licensed by excess Mcm2-7 are required for human cells to survive replicative stress. Genes Dev 21: 3331-3341
-
(2007)
Genes Dev
, vol.21
, pp. 3331-3341
-
-
Ge, X.Q.1
Jackson, D.A.2
Blow, J.J.3
-
34
-
-
84898615020
-
Heterozygous mutations in PALB2 cause DNA replication and damage response defects
-
Nikkilä, J, Parplys, AC, Pylkäs, K, Bose, M, Huo, Y, Borgmann, K., et al. (2013). Heterozygous mutations in PALB2 cause DNA replication and damage response defects. Nat Commun 4: 2578
-
(2013)
Nat Commun
, vol.4
, pp. 2578
-
-
Nikkilä, J.1
Parplys, A.C.2
Pylkäs, K.3
Bose, M.4
Huo, Y.5
Borgmann, K.6
-
35
-
-
0038748216
-
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome
-
Distel, L, Neubauer, S, Varon, R, Holter, W and Grabenbauer, G (2003). Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Med Pediatr Oncol 41: 44-48
-
(2003)
Med Pediatr Oncol
, vol.41
, pp. 44-48
-
-
Distel, L.1
Neubauer, S.2
Varon, R.3
Holter, W.4
Grabenbauer, G.5
-
36
-
-
0030582315
-
Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence
-
Pramono, ZA, Takeshima, Y, Alimsardjono, H, Ishii, A, Takeda, S and Matsuo, M (1996). Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem Biophys Res Commun 226: 445-449
-
(1996)
Biochem Biophys Res Commun
, vol.226
, pp. 445-449
-
-
Pramono, Z.A.1
Takeshima, Y.2
Alimsardjono, H.3
Ishii, A.4
Takeda, S.5
Matsuo, M.6
-
37
-
-
0033044501
-
Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides
-
Wilton, SD, Lloyd, F, Carville, K, Fletcher, S, Honeyman, K, Agrawal, S., et al. (1999). Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul Disord 9: 330-338
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 330-338
-
-
Wilton, S.D.1
Lloyd, F.2
Carville, K.3
Fletcher, S.4
Honeyman, K.5
Agrawal, S.6
-
38
-
-
0027721949
-
The rescue of dystrophin synthesis in boys with Duchenne muscular dystrophy
-
Nicholson, LV (1993). The rescue of dystrophin synthesis in boys with Duchenne muscular dystrophy. Neuromuscul Disord 3: 525-531
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 525-531
-
-
Nicholson, L.V.1
-
39
-
-
84920984860
-
Factor XI antisense oligonucleotide for prevention of venous thrombosis
-
FXI-ASO TKA Investigators.
-
Büller, HR, Bethune, C, Bhanot, S, Gailani, D, Monia, BP, Raskob, GE et al.; FXI-ASO TKA Investigators. (2015). Factor XI antisense oligonucleotide for prevention of venous thrombosis. N Engl J Med 372: 232-240
-
(2015)
N Engl J Med
, vol.372
, pp. 232-240
-
-
Büller, H.R.1
Bethune, C.2
Bhanot, S.3
Gailani, D.4
Monia, B.P.5
Raskob, G.E.6
-
40
-
-
33645825609
-
Chk1 requirement for high global rates of replication fork progression during normal vertebrate S phase
-
Petermann, E, Maya-Mendoza, A, Zachos, G, Gillespie, DA, Jackson, DA and Caldecott, KW (2006). Chk1 requirement for high global rates of replication fork progression during normal vertebrate S phase. Mol Cell Biol 26: 3319-3326
-
(2006)
Mol Cell Biol
, vol.26
, pp. 3319-3326
-
-
Petermann, E.1
Maya-Mendoza, A.2
Zachos, G.3
Gillespie, D.A.4
Jackson, D.A.5
Caldecott, K.W.6
-
41
-
-
84857910490
-
DNA damage by X-rays and their impact on replication processes
-
Parplys, AC, Petermann, E, Petersen, C, Dikomey, E and Borgmann, K (2012). DNA damage by X-rays and their impact on replication processes. Radiother Oncol 102: 466-471
-
(2012)
Radiother Oncol
, vol.102
, pp. 466-471
-
-
Parplys, A.C.1
Petermann, E.2
Petersen, C.3
Dikomey, E.4
Borgmann, K.5
|