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Items: 1 to 20 of 148

1.

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S.

DNA Repair (Amst). 2011 Mar 7;10(3):314-21. doi: 10.1016/j.dnarep.2010.12.002. Epub 2011 Jan 12.

PMID:
21227757
2.

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.

3.

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.

Taylor AM, Groom A, Byrd PJ.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1219-25. Review.

PMID:
15279810
4.

Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS.

Shull ER, Lee Y, Nakane H, Stracker TH, Zhao J, Russell HR, Petrini JH, McKinnon PJ.

Genes Dev. 2009 Jan 15;23(2):171-80. doi: 10.1101/gad.1746609.

5.

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.

6.

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M.

Hum Mol Genet. 2005 Jan 15;14(2):307-18. Epub 2004 Dec 1.

PMID:
15574463
7.

Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm.

Cerosaletti K, Concannon P.

J Biol Chem. 2004 Sep 10;279(37):38813-9. Epub 2004 Jul 1.

8.

Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes.

Lee JH, Ghirlando R, Bhaskara V, Hoffmeyer MR, Gu J, Paull TT.

J Biol Chem. 2003 Nov 14;278(46):45171-81. Epub 2003 Sep 8.

9.

Ataxia-telangiectasia, an evolving phenotype.

Chun HH, Gatti RA.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1187-96. Review.

PMID:
15279807
10.
11.

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L.

Hum Mol Genet. 2004 Sep 15;13(18):2155-63. Epub 2004 Jul 21.

PMID:
15269180
12.

ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.

Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH, Kastan MB.

Nature. 2000 Apr 6;404(6778):613-7.

PMID:
10766245
13.

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.

Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J.

Clin Genet. 2000 May;57(5):384-7.

PMID:
10852373
14.

Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest.

Girard PM, Riballo E, Begg AC, Waugh A, Jeggo PA.

Oncogene. 2002 Jun 20;21(27):4191-9.

15.

Fertility defects revealing germline biallelic nonsense NBN mutations.

Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Laugé A, Portnoï MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH.

Hum Mutat. 2009 Mar;30(3):424-30. doi: 10.1002/humu.20904.

PMID:
19105185
16.

The NBS1-ATM connection revisited.

Difilippantonio S, Nussenzweig A.

Cell Cycle. 2007 Oct 1;6(19):2366-70. Epub 2007 Jul 18. Review.

PMID:
17881893
17.

Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.

Huang J, Grotzer MA, Watanabe T, Hewer E, Pietsch T, Rutkowski S, Ohgaki H.

Clin Cancer Res. 2008 Jul 1;14(13):4053-8. doi: 10.1158/1078-0432.CCR-08-0098.

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.

Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products.

Zhao S, Weng YC, Yuan SS, Lin YT, Hsu HC, Lin SC, Gerbino E, Song MH, Zdzienicka MZ, Gatti RA, Shay JW, Ziv Y, Shiloh Y, Lee EY.

Nature. 2000 May 25;405(6785):473-7.

PMID:
10839544
20.

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

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