Detalhe da pesquisa
1.
Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.
EMBO J
; 43(2): 250-276, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38177505
2.
Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.
Biol Res
; 56(1): 34, 2023 Jun 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37349842
3.
PLEKHM2 Loss of Function Impairs the Activity of iPSC-Derived Neurons via Regulation of Autophagic Flux.
Int J Mol Sci
; 23(24)2022 Dec 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36555735
4.
The Effect of Sera from Children with Obstructive Sleep Apnea Syndrome (OSAS) on Human Cardiomyocytes Differentiated from Human Embryonic Stem Cells.
Int J Mol Sci
; 22(21)2021 Oct 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34768848
5.
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
Brain
; 141(4): 961-970, 2018 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29522154
6.
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.
Transl Psychiatry
; 13(1): 246, 2023 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37414777
7.
Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.
Stem Cell Res
; 64: 102899, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36044808
8.
P450 oxidoreductase regulates barrier maturation by mediating retinoic acid metabolism in a model of the human BBB.
Stem Cell Reports
; 17(9): 2050-2063, 2022 09 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35961311
9.
Generation and characterization of three human induced pluripotent stem cell lines (iPSC) from two family members with dilated cardiomyopathy and left ventricular noncompaction (DCM-LVNC) and one healthy heterozygote sibling.
Stem Cell Res
; 53: 102382, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34088011
10.
Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia.
Stem Cell Res
; 55: 102495, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34419746
11.
Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A).
Stem Cell Res
; 51: 102178, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33482465
12.
African descents are more sensitive than European descents to the antitumor compounds α-hederin and kalopanaxsaponin I.
Planta Med
; 76(16): 1847-51, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20577945
13.
Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative.
Stem Cell Res
; 48: 101975, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32905996
14.
Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene.
Stem Cell Res
; 48: 101955, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32822965
15.
NKp44-Derived Peptide Binds Proliferating Cell Nuclear Antigen and Mediates Tumor Cell Death.
Front Immunol
; 9: 1114, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29875773
16.
Measles Virus Persistent Infection of Human Induced Pluripotent Stem Cells.
Cell Reprogram
; 20(1): 17-26, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29412740