219 related articles for article (PubMed ID: 17564965)
1. 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. PubMed ID: 17564965
[TBL] [Abstract][Full Text] [Related]
2. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
de Ru MH; Gille JJ; Nieuwint AW; Bijlsma JB; van der Blij JF; van Hagen JM
Am J Med Genet A; 2005 Aug; 137(1):81-7. PubMed ID: 16015581
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23144622
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16783362
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 17102619
[TBL] [Abstract][Full Text] [Related]
6. 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; 17(20):3247-53. PubMed ID: 18664457
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 23111928
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 18157127
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 23401567
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21998596
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 12640452
[TBL] [Abstract][Full Text] [Related]
12. 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; 24(1):199-208. PubMed ID: 15616588
[TBL] [Abstract][Full Text] [Related]
13. Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.
Dean SJ; Holden KR; Dwivedi A; Dupont BR; Lyons MJ
Pediatr Neurol; 2014 Jun; 50(6):636-9. PubMed ID: 24725350
[TBL] [Abstract][Full Text] [Related]
14. ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.
Valdés-Sánchez L; De la Cerda B; Diaz-Corrales FJ; Massalini S; Chakarova CF; Wright AF; Bhattacharya SS
Hum Mol Genet; 2013 Apr; 22(8):1507-15. PubMed ID: 23297361
[TBL] [Abstract][Full Text] [Related]
15. 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; 13(24):3127-38. PubMed ID: 15496423
[TBL] [Abstract][Full Text] [Related]
16. Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome.
Llorens-Agost M; Luessing J; van Beneden A; Eykelenboom J; O'Reilly D; Bicknell LS; Reynolds JJ; van Koegelenberg M; Hurles ME; Brady AF; Jackson AP; Stewart GS; Lowndes NF
Hum Mutat; 2018 Dec; 39(12):1847-1853. PubMed ID: 30199583
[TBL] [Abstract][Full Text] [Related]
17. 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; 3(8-9):1227-35. PubMed ID: 15279811
[TBL] [Abstract][Full Text] [Related]
18. Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1.
Balmus G; Zhu M; Mukherjee S; Lyndaker AM; Hume KR; Lee J; Riccio ML; Reeves AP; Sutter NB; Noden DM; Peters RM; Weiss RS
Hum Mol Genet; 2012 Aug; 21(15):3408-20. PubMed ID: 22575700
[TBL] [Abstract][Full Text] [Related]
19. 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; 25(8):1574-87. PubMed ID: 26908596
[TBL] [Abstract][Full Text] [Related]
20. 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; 23(2):171-80. PubMed ID: 19171781
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
