Detalhe da pesquisa
1.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Mol Genet Metab
; 141(2): 108116, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161139
2.
The use of pluripotent stem cells to generate diagnostic tools for transfusion medicine.
Blood
; 140(15): 1723-1734, 2022 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977098
3.
LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.
Haematologica
; 2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152053
4.
Tropomyosin 1 genetically constrains in vitro hematopoiesis.
BMC Biol
; 18(1): 52, 2020 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32408895
5.
Modeling primitive and definitive erythropoiesis with induced pluripotent stem cells.
Blood Adv
; 8(6): 1449-1463, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290102
6.
Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2.
Cell Genom
; 4(5): 100556, 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697123
7.
A nonaggregating surfactant protein C mutant is misdirected to early endosomes and disrupts phospholipid recycling.
Traffic
; 12(9): 1196-210, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21707890
8.
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function.
Stem Cell Res
; 71: 103186, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643495
9.
Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction.
Stem Cell Res
; 71: 103176, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37572398
10.
Generation of a human Tropomyosin 1 knockout iPSC line.
Stem Cell Res
; 71: 103161, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422949
11.
Generation of a human Tropomyosin 1 knockout iPSC line.
bioRxiv
; 2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205377
12.
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.
bioRxiv
; 2023 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425875
13.
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching.
Nat Commun
; 14(1): 2628, 2023 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149717
14.
Tropomyosin 1 deficiency facilitates cell state transitions to enhance hemogenic endothelial cell specification during hematopoiesis.
bioRxiv
; 2023 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37693628
15.
Highly Efficient CRISPR/Cas9-Mediated Genome Editing in Human Pluripotent Stem Cells.
Curr Protoc
; 2(11): e590, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426905
16.
Endoplasmic reticulum stress induced by surfactant protein C BRICHOS mutants promotes proinflammatory signaling by epithelial cells.
Am J Respir Cell Mol Biol
; 44(3): 404-14, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20463293
17.
A novel conserved targeting motif found in ABCA transporters mediates trafficking to early post-Golgi compartments.
J Lipid Res
; 52(8): 1471-82, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21586796
18.
Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model.
Stem Cell Reports
; 16(6): 1458-1467, 2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019812
19.
Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation.
Blood Adv
; 5(3): 687-699, 2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560381
20.
Generation of human control iPSC line CHOPi004-A from juvenile foreskin fibroblast cells.
Stem Cell Res
; 49: 102084, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202304