Detalhe da pesquisa
1.
Astrocyte-targeting therapy rescues cognitive impairment caused by neuroinflammation via the Nrf2 pathway.
Proc Natl Acad Sci U S A
; 120(33): e2303809120, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549281
2.
Posttranscriptional Regulation of Glycoprotein Quality Control in the Endoplasmic Reticulum Is Controlled by the E2 Ub-Conjugating Enzyme UBC6e.
Mol Cell
; 63(5): 753-67, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27570074
3.
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.
BMC Genomics
; 24(1): 601, 2023 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817060
4.
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
Hum Genet
; 142(1): 59-71, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048237
5.
Bioluminescent immunoassay for serine/threonine protein kinase activity using an aequorin-labeled monoclonal antibody and a synthetic peptide as a substrate.
Biochem Biophys Res Commun
; 681: 180-185, 2023 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37783115
6.
Application of the CDK9 inhibitor FIT-039 for the treatment of KSHV-associated malignancy.
BMC Cancer
; 23(1): 71, 2023 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670405
7.
Directed induction of alveolar type I cells derived from pluripotent stem cells via Wnt signaling inhibition.
Stem Cells
; 39(2): 156-169, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33241896
8.
Epigenetic aging in Williams syndrome.
J Child Psychol Psychiatry
; 63(12): 1553-1562, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416284
9.
Hydroxypropyl Cyclodextrin Improves Amiodarone-induced Aberrant Lipid Homeostasis of Alveolar Cells.
Am J Respir Cell Mol Biol
; 64(4): 504-514, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493427
10.
In vitro expansion of mouse primordial germ cell-like cells recapitulates an epigenetic blank slate.
EMBO J
; 36(13): 1888-1907, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28559416
11.
Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.
Respir Res
; 22(1): 284, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34736469
12.
High-resolution imaging mass spectrometry combined with transcriptomic analysis identified a link between fatty acid composition of phosphatidylinositols and the immune checkpoint pathway at the primary tumour site of breast cancer.
Br J Cancer
; 122(2): 245-257, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31819188
13.
Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice.
Proc Natl Acad Sci U S A
; 114(38): 10268-10273, 2017 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28874550
14.
RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.
RNA
; 23(9): 1393-1403, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28592461
15.
Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model.
J Hum Genet
; 64(5): 445-458, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30846821
16.
Integrative network analysis reveals biological pathways associated with Williams syndrome.
J Child Psychol Psychiatry
; 60(5): 585-598, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30362171
17.
Structural basis of an ERAD pathway mediated by the ER-resident protein disulfide reductase ERdj5.
Mol Cell
; 41(4): 432-44, 2011 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21329881
18.
Necrostatin-7 suppresses RANK-NFATc1 signaling and attenuates macrophage to osteoclast differentiation.
Biochem Biophys Res Commun
; 503(2): 544-549, 2018 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29800570
19.
Cancer-specific mutations in p53 induce the translation of Δ160p53 promoting tumorigenesis.
EMBO Rep
; 17(11): 1542-1551, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27702985
20.
Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.
Proc Natl Acad Sci U S A
; 112(9): 2764-9, 2015 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25675486