313 related articles for article (PubMed ID: 17632790)
1. Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
Alterman N; Fattal-Valevski A; Moyal L; Crawford TO; Lederman HM; Ziv Y; Shiloh Y
Am J Med Genet A; 2007 Aug; 143A(16):1827-34. PubMed ID: 17632790
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Gilad S; Chessa L; Khosravi R; Russell P; Galanty Y; Piane M; Gatti RA; Jorgensen TJ; Shiloh Y; Bar-Shira A
Am J Hum Genet; 1998 Mar; 62(3):551-61. PubMed ID: 9497252
[TBL] [Abstract][Full Text] [Related]
3. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.
Taylor AM; Groom A; Byrd PJ
DNA Repair (Amst); 2004; 3(8-9):1219-25. PubMed ID: 15279810
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
Jiang H; Tang B; Xia K; Hu Z; Shen L; Tang J; Zhao G; Zhang Y; Cai F; Pan Q; Long Z; Wang G; Dai H
J Neurol Sci; 2006 Feb; 241(1-2):1-6. PubMed ID: 16380133
[TBL] [Abstract][Full Text] [Related]
5. Nuclear ataxia-telangiectasia mutated (ATM) mediates the cellular response to DNA double strand breaks in human neuron-like cells.
Biton S; Dar I; Mittelman L; Pereg Y; Barzilai A; Shiloh Y
J Biol Chem; 2006 Jun; 281(25):17482-17491. PubMed ID: 16627474
[TBL] [Abstract][Full Text] [Related]
6. Mutations in String/CDC25 inhibit cell cycle re-entry and neurodegeneration in a Drosophila model of Ataxia telangiectasia.
Rimkus SA; Katzenberger RJ; Trinh AT; Dodson GE; Tibbetts RS; Wassarman DA
Genes Dev; 2008 May; 22(9):1205-20. PubMed ID: 18408079
[TBL] [Abstract][Full Text] [Related]
7. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM; Last JI; Hogervorst FB; Smeets DF; Roeleveld N; Verheijen F; Catsman-Berrevoets CE; Wulffraat NM; Cobben JM; Hiel J; Brunt ER; Peeters EA; Gómez Garcia EB; van der Knaap MS; Lincke CR; Laan LA; Tijssen MA; van Rijn MA; Majoor-Krakauer D; Visser M; van 't Veer LJ; Kleijer WJ; van de Warrenburg BP; Warris A; de Groot IJ; de Groot R; Broeks A; Preijers F; Kremer BH; Weemaes CM; Taylor MA; van Deuren M; Willemsen MA
Hum Mutat; 2012 Mar; 33(3):561-71. PubMed ID: 22213089
[TBL] [Abstract][Full Text] [Related]
8. Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.
Soukupova J; Pohlreich P; Seemanova E
Neuromolecular Med; 2011 Sep; 13(3):204-11. PubMed ID: 21833744
[TBL] [Abstract][Full Text] [Related]
9. New mutations in the ATM gene and clinical data of 25 AT patients.
Demuth I; Dutrannoy V; Marques W; Neitzel H; Schindler D; Dimova PS; Chrzanowska KH; Bojinova V; Gregorek H; Graul-Neumann LM; von Moers A; Schulze I; Nicke M; Bora E; Cankaya T; Oláh É; Kiss C; Bessenyei B; Szakszon K; Gruber-Sedlmayr U; Kroisel PM; Sodia S; Goecke TO; Dörk T; Digweed M; Sperling K; de Sá J; Lourenco CM; Varon R
Neurogenetics; 2011 Nov; 12(4):273-82. PubMed ID: 21965147
[TBL] [Abstract][Full Text] [Related]
10. Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
Stewart GS; Last JI; Stankovic T; Haites N; Kidd AM; Byrd PJ; Taylor AM
J Biol Chem; 2001 Aug; 276(32):30133-41. PubMed ID: 11382771
[TBL] [Abstract][Full Text] [Related]
11. p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
Prodosmo A; De Amicis A; Nisticò C; Gabriele M; Di Rocco G; Monteonofrio L; Piane M; Cundari E; Chessa L; Soddu S
J Clin Invest; 2013 Mar; 123(3):1335-42. PubMed ID: 23454770
[TBL] [Abstract][Full Text] [Related]
12. Targeted integration of functional human ATM cDNA into genome mediated by HSV/AAV hybrid amplicon vector.
Cortés ML; Oehmig A; Saydam O; Sanford JD; Perry KF; Fraefel C; Breakefield XO
Mol Ther; 2008 Jan; 16(1):81-8. PubMed ID: 17998902
[TBL] [Abstract][Full Text] [Related]
13. Molecular pathology of ataxia telangiectasia.
Taylor AM; Byrd PJ
J Clin Pathol; 2005 Oct; 58(10):1009-15. PubMed ID: 16189143
[TBL] [Abstract][Full Text] [Related]
14. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
Staples ER; McDermott EM; Reiman A; Byrd PJ; Ritchie S; Taylor AM; Davies EG
Clin Exp Immunol; 2008 Aug; 153(2):214-20. PubMed ID: 18505428
[TBL] [Abstract][Full Text] [Related]
15. ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.
Babaei M; Mitui M; Olson ER; Gatti RA
Hum Genet; 2005 Jul; 117(2-3):101-6. PubMed ID: 15843990
[TBL] [Abstract][Full Text] [Related]
16. Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
Jacquemin V; Rieunier G; Jacob S; Bellanger D; d'Enghien CD; Laugé A; Stoppa-Lyonnet D; Stern MH
Eur J Hum Genet; 2012 Mar; 20(3):305-12. PubMed ID: 22071889
[TBL] [Abstract][Full Text] [Related]
17. Requirement of the MRN complex for ATM activation by DNA damage.
Uziel T; Lerenthal Y; Moyal L; Andegeko Y; Mittelman L; Shiloh Y
EMBO J; 2003 Oct; 22(20):5612-21. PubMed ID: 14532133
[TBL] [Abstract][Full Text] [Related]
18. Expression of ATM in ataxia telangiectasia fibroblasts rescues defects in DNA double-strand break repair in nuclear extracts.
Li Y; Carty MP; Oakley GG; Seidman MM; Medvedovic M; Dixon K
Environ Mol Mutagen; 2001; 37(2):128-40. PubMed ID: 11246219
[TBL] [Abstract][Full Text] [Related]
19. Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasia.
Ziv S; Brenner O; Amariglio N; Smorodinsky NI; Galron R; Carrion DV; Zhang W; Sharma GG; Pandita RK; Agarwal M; Elkon R; Katzin N; Bar-Am I; Pandita TK; Kucherlapati R; Rechavi G; Shiloh Y; Barzilai A
Hum Mol Genet; 2005 Oct; 14(19):2929-43. PubMed ID: 16150740
[TBL] [Abstract][Full Text] [Related]
20. A novel phenotypic marker for ATM-deficient 129S6/SvEvTac-ATMtm1Awb/J mice.
Hibma JC; Neufeld DA; Halaby MJ; Yang DQ
Anat Rec (Hoboken); 2007 Mar; 290(3):243-50. PubMed ID: 17525940
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
