219 related articles for article (PubMed ID: 25040471)
1. Ataxia telangiectasia: more variation at clinical and cellular levels.
Taylor AM; Lam Z; Last JI; Byrd PJ
Clin Genet; 2015 Mar; 87(3):199-208. PubMed ID: 25040471
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A; Bellanger D; Valence S; Mobuchon L; Afenjar A; Giuliano F; Dubois d'Enghien C; Parfait B; Pedespan JM; Auger N; Rieunier G; Collet A; Burglen L; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2019 Oct; 40(10):1690-1699. PubMed ID: 31033087
[TBL] [Abstract][Full Text] [Related]
4. Ataxia-telangiectasia: A review of clinical features and molecular pathology.
Amirifar P; Ranjouri MR; Yazdani R; Abolhassani H; Aghamohammadi A
Pediatr Allergy Immunol; 2019 May; 30(3):277-288. PubMed ID: 30685876
[TBL] [Abstract][Full Text] [Related]
5. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Delia D; Piane M; Buscemi G; Savio C; Palmeri S; Lulli P; Carlessi L; Fontanella E; Chessa L
Hum Mol Genet; 2004 Sep; 13(18):2155-63. PubMed ID: 15269180
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. ATM: the protein encoded by the gene mutated in the radiosensitive syndrome ataxia-telangiectasia.
Lavin MF; Khanna KK
Int J Radiat Biol; 1999 Oct; 75(10):1201-14. PubMed ID: 10549596
[TBL] [Abstract][Full Text] [Related]
8. Molecular basis of ataxia telangiectasia and related diseases.
Ball LG; Xiao W
Acta Pharmacol Sin; 2005 Aug; 26(8):897-907. PubMed ID: 16038621
[TBL] [Abstract][Full Text] [Related]
9. Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.
Regal JA; Festerling TA; Buis JM; Ferguson DO
Hum Mol Genet; 2013 Dec; 22(25):5146-59. PubMed ID: 23912341
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Oxidative stress in ataxia telangiectasia.
Watters DJ
Redox Rep; 2003; 8(1):23-9. PubMed ID: 12631440
[TBL] [Abstract][Full Text] [Related]
12. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I
Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062
[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. Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
Schoenaker MHD; Van Os NJH; Van der Flier M; Van Deuren M; Seyger MM; Taylor AMR; Weemaes CMR; Willemsen MAAP
Eur J Med Genet; 2018 May; 61(5):284-287. PubMed ID: 29288088
[TBL] [Abstract][Full Text] [Related]
15. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
Fernet M; Gribaa M; Salih MA; Seidahmed MZ; Hall J; Koenig M
Hum Mol Genet; 2005 Jan; 14(2):307-18. PubMed ID: 15574463
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Worth PF; Srinivasan V; Smith A; Last JI; Wootton LL; Biggs PM; Davies NP; Carney EF; Byrd PJ; Taylor AM
Mov Disord; 2013 Apr; 28(4):524-8. PubMed ID: 23143971
[TBL] [Abstract][Full Text] [Related]
18. Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A; Bellanger D; Rieunier G; Dubois d'Enghien C; Sophie J; Calvas P; Carriere JP; Anheim M; Castrioto A; Flabeau O; Degos B; Ewenczyk C; Mahlaoui N; Touzot F; Suarez F; Hully M; Roubertie A; Aladjidi N; Tison F; Antoine-Poirel H; Dahan K; Doummar D; Nougues MC; Ioos C; Rougeot C; Masurel A; Bourjault C; Ginglinger E; Prieur F; Siri A; Bordigoni P; Nguyen K; Philippe N; Bellesme C; Demeocq F; Altuzarra C; Mathieu-Dramard M; Couderc F; Dörk T; Auger N; Parfait B; Abidallah K; Moncoutier V; Collet A; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2019 Oct; 40(10):1713-1730. PubMed ID: 31050087
[TBL] [Abstract][Full Text] [Related]
19. Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.
Limbo O; Moiani D; Kertokalio A; Wyman C; Tainer JA; Russell P
Nucleic Acids Res; 2012 Dec; 40(22):11435-49. PubMed ID: 23080121
[TBL] [Abstract][Full Text] [Related]
20. Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
Byrd PJ; Srinivasan V; Last JI; Smith A; Biggs P; Carney EF; Exley A; Abson C; Stewart GS; Izatt L; Taylor AM
Br J Cancer; 2012 Jan; 106(2):262-8. PubMed ID: 22146522
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]