Detalhe da pesquisa
1.
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.
Hum Mutat
; 42(9): 1124-1138, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34153142
2.
Mass Spectrometry-Based Tissue Imaging of Small Molecules.
Adv Exp Med Biol
; 1140: 99-109, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347043
3.
AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling.
Mol Cell
; 39(6): 873-85, 2010 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20864035
4.
Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.
Proc Natl Acad Sci U S A
; 112(7): 2157-62, 2015 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25646469
5.
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
6.
Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.
Haematologica
; 101(7): 846-52, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721895
7.
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
Proc Natl Acad Sci U S A
; 110(48): 19483-8, 2013 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218596
8.
ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.
PLoS Genet
; 9(5): e1003505, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696749
9.
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
J Clin Immunol
; 35(2): 227-33, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25677497
10.
Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.
Blood
; 121(20): 4036-45, 2013 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440242
11.
Extreme growth failure is a common presentation of ligase IV deficiency.
Hum Mutat
; 35(1): 76-85, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123394
12.
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
13.
Mass spectrometry-based tissue imaging of small molecules.
Adv Exp Med Biol
; 806: 283-99, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24952187
14.
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
15.
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
16.
ATM is down-regulated by N-Myc-regulated microRNA-421.
Proc Natl Acad Sci U S A
; 107(4): 1506-11, 2010 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20080624
17.
Common copy number variations in fifty radiosensitive cell lines.
Genomics
; 99(2): 96-100, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22200558
18.
Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia.
J Neurosci
; 31(20): 7568-77, 2011 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21593342
19.
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
20.
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Neurogenetics
; 13(3): 205-14, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22552818