Detalhe da pesquisa
1.
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
Hum Mol Genet
; 23(18): 4758-69, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24760770
2.
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.
Mol Ther
; 21(9): 1653-60, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23774824
3.
Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.
Hum Mol Genet
; 20(16): 3151-60, 2011 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21576124
4.
Defective DNA double-strand break repair in pediatric systemic lupus erythematosus.
Arthritis Rheum
; 64(2): 568-78, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21905016
5.
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Hum Mutat
; 33(1): 198-208, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22006793
6.
Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.
Can J Neurol Sci
; 36(4): 462-7, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19650357
7.
Reciprocal regulation of SOCS 1 and SOCS3 enhances resistance to ionizing radiation in glioblastoma multiforme.
Clin Cancer Res
; 13(8): 2344-53, 2007 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17438093
8.
B29 gene silencing in pituitary cells is regulated by its 3' enhancer.
J Mol Biol
; 362(2): 173-83, 2006 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16920149
9.
Patterned CpG methylation of silenced B cell gene promoters in classical Hodgkin lymphoma-derived and primary effusion lymphoma cell lines.
J Mol Biol
; 350(4): 631-40, 2005 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-15967459
10.
Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.
J Allergy Clin Immunol
; 122(6): 1217-9, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18718650
11.
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
Mol Genet Genomic Med
; 2(4): 332-40, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25077176
12.
Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival.
Radiat Res
; 177(2): 176-86, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21962002
13.
Assessing 'radiosensitivity' with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci.
Radiother Oncol
; 101(1): 35-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21722985
14.
Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia-telangiectasia cells.
Free Radic Biol Med
; 47(3): 250-60, 2009 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19389472