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Items: 1 to 20 of 81

1.

Microcephalin: a causal link between impaired damage response signalling and microcephaly.

O'Driscoll M, Jackson AP, Jeggo PA.

Cell Cycle. 2006 Oct;5(20):2339-44. Epub 2006 Oct 16. Review.

PMID:
17102619
2.

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.

Alderton GK, Galbiati L, Griffith E, Surinya KH, Neitzel H, Jackson AP, Jeggo PA, O'Driscoll M.

Nat Cell Biol. 2006 Jul;8(7):725-33. Epub 2006 Jun 18.

PMID:
16783362
3.

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.

4.

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.

5.

Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1.

Tibelius A, Marhold J, Zentgraf H, Heilig CE, Neitzel H, Ducommun B, Rauch A, Ho AD, Bartek J, Krämer A.

J Cell Biol. 2009 Jun 29;185(7):1149-57. doi: 10.1083/jcb.200810159. Epub 2009 Jun 22.

6.

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
7.

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
8.

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
9.

BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly.

Lin SY, Rai R, Li K, Xu ZX, Elledge SJ.

Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15105-9. Epub 2005 Oct 10.

10.

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
11.

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.

12.

DNA damage response in microcephaly development of MCPH1 mouse model.

Zhou ZW, Tapias A, Bruhn C, Gruber R, Sukchev M, Wang ZQ.

DNA Repair (Amst). 2013 Aug;12(8):645-55. doi: 10.1016/j.dnarep.2013.04.017. Epub 2013 May 15.

PMID:
23683352
13.

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.

14.

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP.

Am J Hum Genet. 2004 Aug;75(2):261-6. Epub 2004 Jun 15.

15.

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.

16.

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

Leung JW, Leitch A, Wood JL, Shaw-Smith C, Metcalfe K, Bicknell LS, Jackson AP, Chen J.

J Biol Chem. 2011 Jun 17;286(24):21393-400. doi: 10.1074/jbc.M110.208793. Epub 2011 Apr 22.

17.

ATR promotes cilia signalling: links to developmental impacts.

Stiff T, Casar Tena T, O'Driscoll M, Jeggo PA, Philipp M.

Hum Mol Genet. 2016 Apr 15;25(8):1574-87. doi: 10.1093/hmg/ddw034. Epub 2016 Feb 11.

18.

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.

19.

ATR: an essential regulator of genome integrity.

Cimprich KA, Cortez D.

Nat Rev Mol Cell Biol. 2008 Aug;9(8):616-27. doi: 10.1038/nrm2450. Epub 2008 Jul 2. Review.

20.

The DNA damage response molecule MCPH1 in brain development and beyond.

Liu X, Zhou ZW, Wang ZQ.

Acta Biochim Biophys Sin (Shanghai). 2016 Jul;48(7):678-85. doi: 10.1093/abbs/gmw048. Epub 2016 May 19. Review.

PMID:
27197793

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