478 related articles for article (PubMed ID: 12640452)
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. PubMed ID: 12640452
[TBL] [Abstract][Full Text] [Related]
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; 13(24):3127-38. PubMed ID: 15496423
[TBL] [Abstract][Full Text] [Related]
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; 24(1):199-208. PubMed ID: 15616588
[TBL] [Abstract][Full Text] [Related]
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; 6():230. PubMed ID: 17010193
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23111928
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 9620777
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Clinical and genetic heterogeneity of Seckel syndrome.
Faivre L; Le Merrer M; Lyonnet S; Plauchu H; Dagoneau N; Campos-Xavier AB; Attia-Sobol J; Verloes A; Munnich A; Cormier-Daire V
Am J Med Genet; 2002 Nov; 112(4):379-83. PubMed ID: 12376940
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Parvari R; Hershkovitz E; Grossman N; Gorodischer R; Loeys B; Zecic A; Mortier G; Gregory S; Sharony R; Kambouris M; Sakati N; Meyer BF; Al Aqeel AI; Al Humaidan AK; Al Zanhrani F; Al Swaid A; Al Othman J; Diaz GA; Weiner R; Khan KT; Gordon R; Gelb BD;
Nat Genet; 2002 Nov; 32(3):448-52. PubMed ID: 12389028
[TBL] [Abstract][Full Text] [Related]
11. Mutation analysis of the ATR gene in breast and ovarian cancer families.
Heikkinen K; Mansikka V; Karppinen SM; Rapakko K; Winqvist R
Breast Cancer Res; 2005; 7(4):R495-501. PubMed ID: 15987455
[TBL] [Abstract][Full Text] [Related]
12. Human cancer cells require ATR for cell cycle progression following exposure to ionizing radiation.
Hurley PJ; Wilsker D; Bunz F
Oncogene; 2007 Apr; 26(18):2535-42. PubMed ID: 17043640
[TBL] [Abstract][Full Text] [Related]
13. Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D; Balestra D; Rohban S; Bovolenta M; Perrone D; Bernardi F; Campaner S; Pinotti M
Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):15-20. PubMed ID: 27639833
[TBL] [Abstract][Full Text] [Related]
14. NBS1 and its functional role in the DNA damage response.
Kobayashi J; Antoccia A; Tauchi H; Matsuura S; Komatsu K
DNA Repair (Amst); 2004; 3(8-9):855-61. PubMed ID: 15279770
[TBL] [Abstract][Full Text] [Related]
15. Chromatin association of rad17 is required for an ataxia telangiectasia and rad-related kinase-mediated S-phase checkpoint in response to low-dose ultraviolet radiation.
Garg R; Callens S; Lim DS; Canman CE; Kastan MB; Xu B
Mol Cancer Res; 2004 Jun; 2(6):362-9. PubMed ID: 15235112
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
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. PubMed ID: 21998596
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
