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Items: 1 to 20 of 123

1.

Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions.

Dzikiewicz-Krawczyk A, Mosor M, Januszkiewicz D, Nowak J.

Mutagenesis. 2012 May;27(3):337-43. doi: 10.1093/mutage/ger084. Epub 2011 Nov 30.

PMID:
22131123
2.

Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.

Mendez G, Cilli D, Berardinelli F, Viganotti M, Ascenzi P, Tanzarella C, Antoccia A, di Masi A.

IUBMB Life. 2012 Oct;64(10):853-61. doi: 10.1002/iub.1077. Epub 2012 Sep 3.

3.

Effect of irradiation on DNA synthesis, NBN gene expression and chromosomal stability in cells with NBN mutations.

Nowak J, Świątek-Kościelna B, Kałużna EM, Rembowska J, Dzikiewicz-Krawczyk A, Zawada M, Januszkiewicz-Lewandowska D.

Arch Med Sci. 2017 Mar 1;13(2):283-292. doi: 10.5114/aoms.2017.65452. Epub 2017 Jan 25.

4.

The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients.

di Masi A, Viganotti M, Polticelli F, Ascenzi P, Tanzarella C, Antoccia A.

Biochem Biophys Res Commun. 2008 May 9;369(3):835-40. doi: 10.1016/j.bbrc.2008.02.129. Epub 2008 Mar 6.

PMID:
18328813
5.

The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer.

Dzikiewicz-Krawczyk A.

Mutat Res. 2008 Sep-Oct;659(3):262-73. doi: 10.1016/j.mrrev.2008.05.005. Epub 2008 Jun 23. Review.

PMID:
18606567
6.

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T.

Am J Hum Genet. 2009 May;84(5):605-16. doi: 10.1016/j.ajhg.2009.04.010. Epub 2009 Apr 30.

7.

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
8.

Hsp90α regulates ATM and NBN functions in sensing and repair of DNA double-strand breaks.

Pennisi R, Antoccia A, Leone S, Ascenzi P, di Masi A.

FEBS J. 2017 Aug;284(15):2378-2395. doi: 10.1111/febs.14145. Epub 2017 Jul 9. Erratum in: FEBS J. 2017 Nov;284(22):3968.

9.

Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.

Cilli D, Mirasole C, Pennisi R, Pallotta V, D'Alessandro A, Antoccia A, Zolla L, Ascenzi P, di Masi A.

PLoS One. 2014 Dec 8;9(12):e114651. doi: 10.1371/journal.pone.0114651. eCollection 2014.

10.

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

Ciara E, Piekutowska-Abramczuk D, Popowska E, Grajkowska W, Barszcz S, Perek D, Dembowska-Bagińska B, Perek-Polnik M, Kowalewska E, Czajńska A, Syczewska M, Czornak K, Krajewska-Walasek M, Roszkowski M, Chrzanowska KH.

Acta Neuropathol. 2010 Mar;119(3):325-34. doi: 10.1007/s00401-009-0608-y. Epub 2009 Nov 12.

PMID:
19908051
11.

Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.

Schröder-Heurich B, Bogdanova N, Wieland B, Xie X, Noskowicz M, Park-Simon TW, Hillemanns P, Christiansen H, Dörk T.

BMC Cancer. 2014 Jun 13;14:434. doi: 10.1186/1471-2407-14-434.

12.

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
13.

Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation.

Gładkowska-Dura M, Dzierzanowska-Fangrat K, Dura WT, van Krieken JH, Chrzanowska KH, van Dongen JJ, Langerak AW.

J Pathol. 2008 Nov;216(3):337-44. doi: 10.1002/path.2418.

PMID:
18788073
14.

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

van der Burg M, Pac M, Berkowska MA, Goryluk-Kozakiewicz B, Wakulinska A, Dembowska-Baginska B, Gregorek H, Barendregt BH, Krajewska-Walasek M, Bernatowska E, van Dongen JJ, Chrzanowska KH, Langerak AW.

Blood. 2010 Jun 10;115(23):4770-7. doi: 10.1182/blood-2009-10-250514. Epub 2010 Apr 8.

15.

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.

PMID:
25771721
16.

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.

17.

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
18.

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay JP, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A.

Eur J Med Genet. 2007 May-Jun;50(3):176-87. Epub 2007 Feb 21.

PMID:
17395558
19.

Nijmegen breakage syndrome and functions of the responsible protein, NBS1.

Antoccia A, Kobayashi J, Tauchi H, Matsuura S, Komatsu K.

Genome Dyn. 2006;1:191-205. doi: 10.1159/000092508. Review.

PMID:
18724061
20.

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