Detalhe da pesquisa
1.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Nature
; 628(8009): 844-853, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570685
2.
Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors.
Am J Hum Genet
; 111(4): 714-728, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579669
3.
Thymidylate synthase disruption to limit cell proliferation in cell therapies.
Mol Ther
; 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38867450
4.
Regulating germline editing in assisted reproductive technology: An EU cross-disciplinary perspective.
Bioethics
; 34(1): 16-32, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31877579
5.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Sci Rep
; 14(1): 4306, 2024 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383731
6.
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Cell Rep Med
; 5(4): 101503, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593810
7.
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy.
Mol Genet Metab Rep
; 31: 100863, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782600
8.
CIP2A increases self-renewal and is linked to Myc in neural progenitor cells.
Differentiation
; 80(1): 68-77, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20447748
9.
Curative gene therapies for rare diseases.
J Community Genet
; 12(2): 267-276, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803721
10.
Simultaneous high-efficiency base editing and reprogramming of patient fibroblasts.
Stem Cell Reports
; 16(12): 3064-3075, 2021 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34822772
11.
Amplification and overexpression of KIT, PDGFRA, and VEGFR2 in medulloblastomas and primitive neuroectodermal tumors.
J Neurooncol
; 97(2): 217-24, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19779861
12.
Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?
Eur J Hum Genet
; 27(3): 484-487, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568241
13.
CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cells.
PLoS One
; 14(1): e0208237, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30645582
14.
KIT overexpression induces proliferation in astrocytes in an imatinib-responsive manner and associates with proliferation index in gliomas.
Int J Cancer
; 123(4): 793-800, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18506689
15.
Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes.
Elife
; 72018 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412052
16.
PlasmaDNA: a free, cross-platform plasmid manipulation program for molecular biology laboratories.
BMC Mol Biol
; 8: 77, 2007 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-17868482
17.
Generation of an OCT4 reporter human induced pluripotent stem cell line using CRISPR/SpCas9.
Stem Cell Res
; 23: 105-108, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28925359
18.
Generation of a SOX2 reporter human induced pluripotent stem cell line using CRISPR/SaCas9.
Stem Cell Res
; 22: 16-19, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28952927
19.
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.
Cell Rep
; 19(2): 281-294, 2017 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28402852
20.
Crosstalk between Jagged1 and GDNF/Ret/GFRalpha1 signalling regulates ureteric budding and branching.
Mech Dev
; 122(6): 765-80, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15905075