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Items: 1 to 20 of 118

1.

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.

2.

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.

3.

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
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.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V.

J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.

6.

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.

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.

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
9.

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
10.

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
11.

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.

12.

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.

Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P.

Hum Genet. 2016 Feb;135(2):157-70. doi: 10.1007/s00439-015-1619-5. Epub 2015 Nov 30.

PMID:
26621532
13.

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.

14.

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.

15.

The leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling.

Beveridge RD, Staples CJ, Patil AA, Myers KN, Maslen S, Skehel JM, Boulton SJ, Collis SJ.

Cell Cycle. 2014;13(21):3450-9. doi: 10.4161/15384101.2014.956529.

16.

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
17.

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

Stiff T, Cerosaletti K, Concannon P, O'Driscoll M, Jeggo PA.

Hum Mol Genet. 2008 Oct 15;17(20):3247-53. doi: 10.1093/hmg/ddn220. Epub 2008 Jul 28.

18.

The basic cleft of RPA70N binds multiple checkpoint proteins, including RAD9, to regulate ATR signaling.

Xu X, Vaithiyalingam S, Glick GG, Mordes DA, Chazin WJ, Cortez D.

Mol Cell Biol. 2008 Dec;28(24):7345-53. doi: 10.1128/MCB.01079-08. Epub 2008 Oct 20.

19.

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.

20.

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.

Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ, Taylor AM.

Am J Hum Genet. 2000 Nov;67(5):1320-6. Epub 2000 Oct 5.

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