Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96

1.

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA.

Nat Genet. 2003 Apr;33(4):497-501. Epub 2003 Mar 17.

PMID:
12640452
2.

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

Alderton GK, Joenje H, Varon R, Børglum AD, Jeggo PA, O'Driscoll M.

Hum Mol Genet. 2004 Dec 15;13(24):3127-38. Epub 2004 Oct 20.

PMID:
15496423
3.

Nbs1 is required for ATR-dependent phosphorylation events.

Stiff T, Reis C, Alderton GK, Woodbine L, O'Driscoll M, Jeggo PA.

EMBO J. 2005 Jan 12;24(1):199-208. Epub 2004 Dec 16.

4.

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J.

BMC Cancer. 2006 Sep 29;6:230.

5.

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.

Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P.

Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20.

PMID:
23111928
6.
7.

RPA2 is a direct downstream target for ATR to regulate the S-phase checkpoint.

Olson E, Nievera CJ, Klimovich V, Fanning E, Wu X.

J Biol Chem. 2006 Dec 22;281(51):39517-33. Epub 2006 Oct 10.

9.

H2AX phosphorylation after UV irradiation is triggered by DNA repair intermediates and is mediated by the ATR kinase.

Hanasoge S, Ljungman M.

Carcinogenesis. 2007 Nov;28(11):2298-304. Epub 2007 Jul 5.

PMID:
17615256
11.

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA.

PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8.

12.

Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts.

Tivey HS, Rokicki MJ, Barnacle JR, Rogers MJ, Bagley MC, Kipling D, Davis T.

J Gerontol A Biol Sci Med Sci. 2013 Sep;68(9):1001-9. doi: 10.1093/gerona/gls336. Epub 2013 Feb 11.

13.

Evidence for alternate splicing within the mRNA transcript encoding the DNA damage response kinase ATR.

Mannino JL, Kim W, Wernick M, Nguyen SV, Braquet R, Adamson AW, Den Z, Batzer MA, Collins CC, Brown KD.

Gene. 2001 Jul 11;272(1-2):35-43.

PMID:
11470508
14.

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M.

Nat Genet. 2008 Feb;40(2):232-6. Epub 2007 Dec 23.

15.

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.

O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA.

Am J Hum Genet. 2007 Jul;81(1):77-86. Epub 2007 May 17.

16.

CtIP Mutations Cause Seckel and Jawad Syndromes.

Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Børglum AD.

PLoS Genet. 2011 Oct;7(10):e1002310. doi: 10.1371/journal.pgen.1002310. Epub 2011 Oct 6.

17.

Rad50 depletion impacts upon ATR-dependent DNA damage responses.

Zhong H, Bryson A, Eckersdorff M, Ferguson DO.

Hum Mol Genet. 2005 Sep 15;14(18):2685-93. Epub 2005 Aug 8.

PMID:
16087684
18.

Positional cloning of the gene for Nijmegen breakage syndrome.

Matsuura S, Tauchi H, Nakamura A, Kondo N, Sakamoto S, Endo S, Smeets D, Solder B, Belohradsky BH, Der Kaloustian VM, Oshimura M, Isomura M, Nakamura Y, Komatsu K.

Nat Genet. 1998 Jun;19(2):179-81.

PMID:
9620777
19.

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.

O'Driscoll M, Gennery AR, Seidel J, Concannon P, Jeggo PA.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1227-35. Review.

PMID:
15279811
20.

Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells.

Yamamoto K, Ishiai M, Matsushita N, Arakawa H, Lamerdin JE, Buerstedde JM, Tanimoto M, Harada M, Thompson LH, Takata M.

Mol Cell Biol. 2003 Aug;23(15):5421-30.

Supplemental Content

Support Center