Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 78

1.

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.

Demuth I, Krebs SK, Dutrannoy V, Linke C, Krobitsch S, Varon R, Lang C, Raab A, Sperling K, Digweed M.

PLoS One. 2018 Nov 15;13(11):e0207315. doi: 10.1371/journal.pone.0207315. eCollection 2018.

2.

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC.

J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913. Epub 2017 Mar 27.

3.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.

PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.

4.

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

Salewsky B, Hildebrand G, Rothe S, Parplys AC, Radszewski J, Kieslich M, Wessendorf P, Krenzlin H, Borgmann K, Nussenzweig A, Sperling K, Digweed M.

Mol Ther. 2016 Feb;24(1):117-24. doi: 10.1038/mt.2015.144. Epub 2015 Aug 12.

5.

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, Digweed M.

Mutat Res. 2014 Nov;769:11-6. doi: 10.1016/j.mrfmmm.2014.07.001. Epub 2014 Jul 11.

6.

Regulation of fibrillin-1 gene expression by Sp1.

Guo G, Rödelsperger C, Digweed M, Robinson PN.

Gene. 2013 Sep 25;527(2):448-55. doi: 10.1016/j.gene.2013.07.006. Epub 2013 Jul 13.

PMID:
23860323
7.

Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.

Salewsky B, Wessendorf P, Hirsch D, Krenzlin H, Digweed M.

Gene. 2013 May 1;519(2):217-21. doi: 10.1016/j.gene.2013.02.033. Epub 2013 Feb 28.

PMID:
23458873
8.

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

Salewsky B, Schmiester M, Schindler D, Digweed M, Demuth I.

Hum Mol Genet. 2012 Nov 15;21(22):4948-56. doi: 10.1093/hmg/dds338. Epub 2012 Aug 19.

PMID:
22907656
9.

DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress.

Krenzlin H, Demuth I, Salewsky B, Wessendorf P, Weidele K, Bürkle A, Digweed M.

PLoS Genet. 2012;8(3):e1002557. doi: 10.1371/journal.pgen.1002557. Epub 2012 Mar 1.

10.

Nijmegen breakage syndrome (NBS).

Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M.

Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Review.

11.

New mutations in the ATM gene and clinical data of 25 AT patients.

Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R.

Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2.

PMID:
21965147
12.

Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide.

Eich M, Roos WP, Dianov GL, Digweed M, Kaina B.

Mol Pharmacol. 2010 Nov;78(5):943-51. doi: 10.1124/mol.110.066076. Epub 2010 Aug 20.

PMID:
20729302
13.

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R.

Hum Mutat. 2010 Sep;31(9):1059-68. doi: 10.1002/humu.21315.

PMID:
20597108
14.

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.

Lins S, Kim R, Krüger L, Chrzanowska KH, Seemanova E, Digweed M.

Gene. 2009 Nov 1;447(1):12-7. doi: 10.1016/j.gene.2009.07.013. Epub 2009 Jul 25.

PMID:
19635536
15.

A systematic proteomic study of irradiated DNA repair deficient Nbn-mice.

Melchers A, Stöckl L, Radszewski J, Anders M, Krenzlin H, Kalischke C, Scholz R, Jordan A, Nebrich G, Klose J, Sperling K, Digweed M, Demuth I.

PLoS One. 2009;4(5):e5423. doi: 10.1371/journal.pone.0005423. Epub 2009 May 1. Erratum in: PLoS One. 2009;4(5): 10.1371/annotation/06306df9-1db3-4e7b-a7ce-18338b655967.

16.

Evidence for hSNM1B/Apollo functioning in the HSP70 mediated DNA damage response.

Anders M, Mattow J, Digweed M, Demuth I.

Cell Cycle. 2009 Jun 1;8(11):1725-32. Epub 2009 Jun 1.

PMID:
19411856
17.

DNA repair 2008: Tenth Biennial Meeting of the German Society for Research on DNA Repair.

Digweed M, Demuth I, Wiesmüller L.

DNA Repair (Amst). 2009 Mar 1;8(3):424-8. doi: 10.1016/j.dnarep.2008.11.013. Epub 2008 Dec 30.

PMID:
19073284
18.

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I.

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.

19.

Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.

Demuth I, Bradshaw PS, Lindner A, Anders M, Heinrich S, Kallenbach J, Schmelz K, Digweed M, Meyn MS, Concannon P.

DNA Repair (Amst). 2008 Aug 2;7(8):1192-201. doi: 10.1016/j.dnarep.2008.03.020. Epub 2008 May 12.

20.

Cancer risk of heterozygotes with the NBN founder mutation.

Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K.

J Natl Cancer Inst. 2007 Dec 19;99(24):1875-80. Epub 2007 Dec 11.

PMID:
18073374
21.
22.

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.

Thierfelder N, Demuth I, Burghardt N, Schmelz K, Sperling K, Chrzanowska KH, Seemanova E, Digweed M.

Eur J Cell Biol. 2008 Feb;87(2):111-21. Epub 2007 Oct 30.

PMID:
17977616
23.

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Krüger L, Demuth I, Neitzel H, Varon R, Sperling K, Chrzanowska KH, Seemanova E, Digweed M.

Carcinogenesis. 2007 Jan;28(1):107-11. Epub 2006 Jul 13.

PMID:
16840438
24.

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stöckl L, Spadoni E, Krüger LA, di Masi A, Sperling K, Digweed M, Maraschio P.

Hum Mol Genet. 2006 Mar 1;15(5):679-89. Epub 2006 Jan 13.

PMID:
16415040
25.

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M.

J Med Genet. 2006 Mar;43(3):218-24. Epub 2005 Jul 20.

26.

The Fanconi anemia group A protein modulates homologous repair of DNA double-strand breaks in mammalian cells.

Yang YG, Herceg Z, Nakanishi K, Demuth I, Piccoli C, Michelon J, Hildebrand G, Jasin M, Digweed M, Wang ZQ.

Carcinogenesis. 2005 Oct;26(10):1731-40. Epub 2005 May 19.

PMID:
15905196
27.

An essential function for NBS1 in the prevention of ataxia and cerebellar defects.

Frappart PO, Tong WM, Demuth I, Radovanovic I, Herceg Z, Aguzzi A, Digweed M, Wang ZQ.

Nat Med. 2005 May;11(5):538-44. Epub 2005 Apr 10.

PMID:
15821748
28.

Nibrin functions in Ig class-switch recombination.

Kracker S, Bergmann Y, Demuth I, Frappart PO, Hildebrand G, Christine R, Wang ZQ, Sperling K, Digweed M, Radbruch A.

Proc Natl Acad Sci U S A. 2005 Feb 1;102(5):1584-9. Epub 2005 Jan 24.

29.

A common Fanconi anemia mutation in black populations of sub-Saharan Africa.

Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG.

Blood. 2005 May 1;105(9):3542-4. Epub 2005 Jan 18.

PMID:
15657175
30.

Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.

Nakanishi K, Yang YG, Pierce AJ, Taniguchi T, Digweed M, D'Andrea AD, Wang ZQ, Jasin M.

Proc Natl Acad Sci U S A. 2005 Jan 25;102(4):1110-5. Epub 2005 Jan 13.

31.
32.

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, Varon R, Herceg Z, Sperling K, Wang ZQ, Digweed M.

Hum Mol Genet. 2004 Oct 15;13(20):2385-97. Epub 2004 Aug 27.

PMID:
15333589
33.

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

Digweed M, Sperling K.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1207-17. Review.

PMID:
15279809
34.

Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation.

Kalb R, Duerr M, Wagner M, Herterich S, Gross M, Digweed M, Joenje H, Hoehn H, Schindler D.

Radiat Res. 2004 Mar;161(3):318-25.

PMID:
14982482
35.

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, Herceg Z, Digweed M, Wang ZQ.

Cancer Res. 2003 Nov 1;63(21):7263-9.

36.

Response to environmental carcinogens in DNA-repair-deficient disorders.

Digweed M.

Toxicology. 2003 Nov 15;193(1-2):111-24. Review.

PMID:
14599771
37.

SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.

Digweed M, Demuth I, Rothe S, Scholz R, Jordan A, Grötzinger C, Schindler D, Grompe M, Sperling K.

Oncogene. 2002 Jul 25;21(32):4873-8. Review.

38.

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia.

Digweed M, Rothe S, Demuth I, Scholz R, Schindler D, Stumm M, Grompe M, Jordan A, Sperling K.

Carcinogenesis. 2002 Jul;23(7):1121-6.

PMID:
12117768
39.

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG.

Blood. 2000 Dec 15;96(13):4064-70.

PMID:
11110674
40.

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M.

Eur J Hum Genet. 2000 Nov;8(11):861-8.

41.

Isolation of a cDNA representing the Fanconi anemia complementation group E gene.

de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H.

Am J Hum Genet. 2000 Nov;67(5):1306-8. Epub 2000 Sep 19.

42.

Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.

Kuang Y, Garcia-Higuera I, Moran A, Mondoux M, Digweed M, D'Andrea AD.

Blood. 2000 Sep 1;96(5):1625-32.

PMID:
10961856
43.

[Molecular basis of Fanconi's anemia].

Digweed M.

Klin Padiatr. 1999 Jul-Aug;211(4):192-7. Review. German.

PMID:
10472548
44.

Overexpression of cDNA encoding FANCC, SPHAR, MPG, SNM1 or HA 3611 does not render CHO cells more resistant to DNA crosslinking agents.

Grombacher T, Tomicic M, Digweed M, Kaina B.

Anticancer Res. 1999 May-Jun;19(3A):1729-35.

PMID:
10470107
45.

Nijmegen breakage syndrome: consequences of defective DNA double strand break repair.

Digweed M, Reis A, Sperling K.

Bioessays. 1999 Aug;21(8):649-56. Review.

PMID:
10440861
46.

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.

Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M.

Am J Hum Genet. 1999 May;64(5):1400-5.

47.

The Fanconi anaemia group G gene FANCG is identical with XRCC9.

de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H.

Nat Genet. 1998 Nov;20(3):281-3.

PMID:
9806548
48.

Genomic organization of a potential human DNA-crosslink repair gene, KIAA0086.

Demuth I, Digweed M.

Mutat Res. 1998 Oct 21;409(1):11-6.

PMID:
9806498
49.

Localisation of a Fanconi anaemia gene to chromosome 9p.

Saar K, Schindler D, Wegner RD, Reis A, Wienker TF, Hoehn H, Joenje H, Sperling K, Digweed M.

Eur J Hum Genet. 1998 Sep-Oct;6(5):501-8.

50.

Supplemental Content

Loading ...
Support Center