Detalhe da pesquisa
1.
SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage.
Proc Natl Acad Sci U S A
; 114(12): E2347-E2356, 2017 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28270613
2.
Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7.
Genomics
; 105(4): 220-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645699
3.
Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy.
J Clin Immunol
; 35(1): 92-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388448
4.
Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
Clin Chem
; 61(2): 412-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25502182
5.
Inflammatory arthritis can be reined in by CpG-induced DC-NK cell cross talk.
J Exp Med
; 204(8): 1911-22, 2007 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-17646407
6.
Erythroid lineage chromatin accessibility maps facilitate identification and validation of NFIX as a fetal hemoglobin repressor.
Commun Biol
; 6(1): 640, 2023 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316562
7.
Targeting RARA overexpression with tamibarotene, a potent and selective RARα agonist, is a novel approach in AML.
Blood Adv
; 7(9): 1858-1870, 2023 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477975
8.
Causal modeling using network ensemble simulations of genetic and gene expression data predicts genes involved in rheumatoid arthritis.
PLoS Comput Biol
; 7(3): e1001105, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21423713
9.
Progressive multifocal leukoencephalopathy (PML) development is associated with mutations in JC virus capsid protein VP1 that change its receptor specificity.
J Infect Dis
; 204(1): 103-14, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21628664
10.
Sequencing and analysis of JC virus DNA from natalizumab-treated PML patients.
J Infect Dis
; 204(2): 237-44, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21673034
11.
ΔNp63/p73 drive metastatic colonization by controlling a regenerative epithelial stem cell program in quasi-mesenchymal cancer stem cells.
Dev Cell
; 57(24): 2714-2730.e8, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538894
12.
A genome-wide screen of gene-gene interactions for rheumatoid arthritis susceptibility.
Hum Genet
; 129(5): 473-85, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21210282
13.
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
N Engl J Med
; 357(12): 1199-209, 2007 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17804836
14.
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.
N Engl J Med
; 357(10): 977-86, 2007 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-17804842
15.
Convergent Random Forest predictor: methodology for predicting drug response from genome-scale data applied to anti-TNF response.
Genomics
; 94(6): 423-32, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19699293
16.
Experimental comparison and cross-validation of Affymetrix HT plate and cartridge array gene expression platforms.
Genomics
; 92(5): 359-65, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18672051
17.
Discovery and Characterization of SY-1365, a Selective, Covalent Inhibitor of CDK7.
Cancer Res
; 79(13): 3479-3491, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064851
18.
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
Mol Med
; 14(9-10): 575-81, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18615156
19.
CRIPTO3, a presumed pseudogene, is expressed in cancer.
Biochem Biophys Res Commun
; 377(1): 215-20, 2008 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18835250
20.
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.
Nat Commun
; 9(1): 1929, 2018 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769526