Bibliografia
Nota: la presente non è da intendersi come una bibliografia completa
della NBS. Di seguito è riportato l'elenco degli articoli utilizzati durante la
preparazione di questo sito web. Molti altri lavori, non citati qui, hanno
ugualmente contribuito allo studio e alla comprensione della NBS.
Antoccia A, Stumm M, Saar K, Ricordy R, Maraschio P, Tanzarella C.
Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome
aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines.
Int J Radiat Biol. 1999;75:583-91.
Antoccia A, di Masi A, Maraschio P, Stumm M, Ricordy R, Tanzarella C.
G2-phase radiation response in lymphoblastoid cell lines from Nijmegen breakage
syndrome.
Cell Prolif. 2002;35:93-104.
Bakhshi S, Cerosaletti KM, Concannon P, Bawle EV, Fontanesi J, Gatti RA,
Bhambhani K.
Medulloblastoma with adverse reaction to radiation therapy in Nijmegen Breakage
Syndrome.
J Pediatr Hematol Oncol. 2003;25:248-51.
Burma S, Chen BP, Murphy M, Kurimasa A,
Chen DJ.
ATM phosphorylates histone H2AX in response to DNA double-strand
breaks.
J Biol Chem. 2001;276:42462-7.
Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, Hays
L, Morgan WF, Petrini JH.
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of
double-strand break repair to the cellular DNA damage response.
Cell. 1998;93:477-86.
Cerosaletti KM, Concannon P.
The Nibrin FHA and BRCT domains are both required for nuclear focus formation
and phosphorylation.
J Biol Chem. 2003 Apr 4 [epub ahead of print]
Concannon
PJ, Gatti RA (Updated 14 March 2003).
Nijmegen Breakage Syndrome. In:
GeneReviews at GeneTests: Medical Genetics Information Resource (database online).
Copyright, University of Washington, Seattle. 1997-2003. Available at http://www.genetests.org.
Der
Kaloustian VM, Kleijer W, Booth A, Auerbach AD, Mazer B, Elliott AM, Abish S,
Usher R, Watters G, Vekemans M, Eydoux P.
Possible new variant of Nijmegen breakage syndrome.
Am J Med Genet. 1996;65:21-6. Review.
Desai-Mehta A, Cerosaletti KM, Concannon P.
Distinct functional domains of nibrin mediate Mre11 binding, focus formation,
and nuclear localization.
Mol Cell Biol. 2001;21:2184-91.
Digweed M, Reis A, Sperling K.
Nijmegen breakage syndrome: consequences of defective DNA double strand break
repair.
Bioessays. 1999;21:649-56. Review.
Falck J, Petrini JHJ, Williams BR, Lukas J, Bartek
J.
The DNA damage-dependent intra–S phase checkpoint is regulated
by parallel pathways.
Nat Genet. 2002;30:290-4.
Featherstone C, Jackson SP.
DNA repair: the Nijmegen breakage syndrome protein.
Curr Biol. 1998;8:R622-5. Review.
Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov
S, Lavin MF, Gatti RA, Concannon P, Khanna K.
ATM-dependent phosphorylation of nibrin in response to radiation exposure.
Nat Genet. 2000;25:115-9.
Gennery AR, Slatter MA, Bhattacharya A, Barge D, Haigh S, O'Driscoll M,
Coleman R, Abinun M, Flood TJ, Cant AJ, Jeggo PA.
The clinical and biological overlap between Nijmegen Breakage Syndrome and
Fanconi anemia.
Clin Immunol. 2004;113:214-9.
Girard PM, Riballo E, Begg AC, Waugh A, Jeggo PA.
Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S
arrest.
Oncogene. 2002;21:4191-9.
The International Nijmegen Breakage Syndrome Study Group.
Nijmegen breakage syndrome.
Arch Dis Child. 2000;82:400-6. Review.
Kobayashi J, Tauchi H, Sakamoto S, Nakamura A, Morishima
K, Matsuura S, Kobayashi T, Tamai K, Tanimoto K, Komatsu
K.
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
Curr Biol. 2002;12:1846-51.
Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH, Kastan MB.
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.
Nature. 2000;404:613-7.
Maraschio
P, Peretti D, Lambiase S, Lo Curto F, Caufin D, Gargantini L, Minoli L, Zuffardi
O.
A new chromosome instability disorder.
Clin Genet. 1986;30:353-65.
Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A,
Besana D, Guala A, Tiepolo L.
A novel mutation and novel features in Nijmegen breakage syndrome.
J Med Genet. 2001;38:113-7.
Maser RS, Zinkel R, Petrini JH.
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome
allele.
Nat Genet. 2001;27:417-21.
Meyer S, Kingston H, Taylor AM, Byrd PJ, Last JI, Brennan BM, Trueman S, Kelsey
A, Taylor GM, Eden OB.
Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal
primary site.
Cancer Genet Cytogenet. 2004;154:169-74.
Nakanishi K, Taniguchi T, Ranganathan V, New HV, Moreau LA, Stotsky M, Mathew CG,
Kastan MB, Weaver DT, D'Andrea AD.
Interaction of FANCD2 and NBS1 in the DNA damage response.
Nat Cell Biol. 2002;4:913-20.
New HV, Cale CM, Tischkowitz M, Jones A, Telfer P, Veys P, D'Andrea A,
Mathew CG, Hann I.
Nijmegen breakage syndrome diagnosed as Fanconi anaemia.
Pediatr Blood Cancer. 2004 Dec 8; [Epub ahead of print]
Pan Q, Petit-Frere C, Lähdesmäki A,
Gregorek H, Chrzanowska KH, Hammarström L.
Alternative end joining during switch recombination in
patients with Ataxia-Telangiectasia.
Eur. J. Immunol. 2002;32:1300-8.
Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina
I, Evgrafov O, Tverskaya S, Cerosaletti KM, Gatti RA,
Concannon P.
Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian
families.
J Pediatr. 2002;140:355-61.
Seemanova E, Sperling
K, Neitzel H, Varon R, Hadac J, Butova O, Schrock E, Seeman P, Digweed M.
Nijmegen breakage
syndrome (NBS) with neurological abnormalities and without chromosomal
instability.
J Med Genet. 2006
Mar;43(3):218-24. Epub 2005 Jul 20.
Tanzarella
C, Antoccia A, Spadoni E, Di Masi A, Pecile V, Demori E, Varon R, Tiepolo L,
Maraschio P.
Chromosome instability and nibrin protein variants in
NBS heterozygotes.
Eur J Hum Genet. 2003; in press
Tauchi H, Kobayashi J, Morishima K, Matsuura S, Nakamura A, Shiraishi T,
Ito E, Masnada D, Delia D, Komatsu K.
The forkhead-associated domain of NBS1 is essential for nuclear foci formation
after irradiation but not essential for hRAD50-hMRE11-NBS1 complex DNA repair
activity.
J Biol Chem. 2001;276:12-5.
Tauchi H, Matsuura S, Kobayashi J, Sakamoto S, Komatsu K.
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome
stability.
Oncogene. 2002;21:8967-80.
Tupler R, Marseglia GL, Stefanini M, Prosperi E, Chessa L, Nardo T,
Marchi A, Maraschio P.
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features
and intermediate cellular radiosensitivity.
J Med Genet. 1997;34:196-202.
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann
G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK,
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;93:467-76.
Varon R, Seemanova E, Chrzanowska K, Hnateyko O,
Piekutowska-Abramczuk D, Krajewska-Walasek M,
Sykut-Cegielska J, Sperling K, Reis A.
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the
major mutation, 657del5, in three Slav populations.
Eur
J Hum Genet. 2000;8:900-2.
Wu X, Ranganathan V, Weisman DS, Heine WF, Ciccone DN, O'Neill TB, Crick KE,
Pierce KA, Lane WS, Rathbun G, Livingston DM, Weaver DT.
ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA
damage response.
Nature. 2000;405:477-82.
Yazdi PT, Wang Y, Zhao S, Patel N, Lee EY-HP,
Qin J.
SMC1 is a downstream effector in the ATM/NBS1
branch of the human S-phase checkpoint.
Genes & Dev 2002;16:571-82.
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.
Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome
gene products.
Nature. 2000;405:473-7.