Detalhe da pesquisa
1.
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.
Cell
; 136(3): 420-34, 2009 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19203578
2.
Integrative analysis of spontaneous CLL regression highlights genetic and microenvironmental interdependency in CLL.
Blood
; 135(6): 411-428, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794600
3.
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Ann Neurol
; 85(2): 170-180, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30549301
4.
Regulation of DNA-end resection by hnRNPU-like proteins promotes DNA double-strand break signaling and repair.
Mol Cell
; 45(4): 505-16, 2012 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22365830
5.
USP7 inhibition alters homologous recombination repair and targets CLL cells independently of ATM/p53 functional status.
Blood
; 130(2): 156-166, 2017 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495793
6.
A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.
PLoS Genet
; 12(3): e1005945, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26990772
7.
Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants.
Haematologica
; 100(8): 1076-85, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840602
8.
Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.
Pediatr Blood Cancer
; 67(9): e28354, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383811
9.
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
PLoS Genet
; 8(11): e1002945, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23144622
10.
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
J Immunol
; 189(1): 261-8, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22649200
11.
Mre11 modulates the fidelity of fusion between short telomeres in human cells.
Nucleic Acids Res
; 40(6): 2518-26, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139912
12.
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Mov Disord
; 28(4): 524-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143971
13.
Adenovirus 12 E4orf6 inhibits ATR activation by promoting TOPBP1 degradation.
Proc Natl Acad Sci U S A
; 107(27): 12251-6, 2010 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20566845
14.
The PARP inhibitor olaparib induces significant killing of ATM-deficient lymphoid tumor cells in vitro and in vivo.
Blood
; 116(22): 4578-87, 2010 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20739657
15.
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
Clin Immunol
; 140(1): 26-36, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21459046
16.
Independent and sequential recruitment of NHEJ and HR factors to DNA damage sites in mammalian cells.
J Cell Biol
; 170(3): 341-7, 2005 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16061690
17.
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
Hum Mutat
; 30(8): 1222-30, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19431188
18.
A role for E1B-AP5 in ATR signaling pathways during adenovirus infection.
J Virol
; 82(15): 7640-52, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18480432
19.
Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.
Cerebellum
; 8(1): 22-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18846412
20.
Chromosome instability syndromes.
Nat Rev Dis Primers
; 5(1): 64, 2019 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31537806