Detalhe da pesquisa
1.
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
J Clin Immunol
; 44(4): 85, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578354
2.
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
J Allergy Clin Immunol
; 140(2): 553-564.e4, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069426
3.
IFN-α levels in ruxolitinib-treatead Aicardi-Goutières patient during SARS-CoV-2 infection: A case report.
Clin Immunol
; 227: 108743, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930555
4.
Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.
Clin Case Rep
; 11(8): e7724, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534202
5.
Aerosol Jet® Printing of Poly(3,4-Ethylenedioxythiophene): Poly(Styrenesulfonate) onto Micropatterned Substrates for Neural Cells In Vitro Stimulation.
Int J Bioprint
; 8(1): 504, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35187286
6.
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation.
Front Pediatr
; 9: 725868, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34778129
7.
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.
Stem Cell Res
; 54: 102430, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34182252
8.
Selective Laser Melting and Electron Beam Melting of Ti6Al4V for Orthopedic Applications: A Comparative Study on the Applied Building Direction.
Materials (Basel)
; 13(23)2020 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33297551
9.
Nebulized jet-based printing of bio-electrical scaffolds for neural tissue engineering: a feasibility study.
Biofabrication
; 12(2): 025024, 2020 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32000155
10.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
Stem Cell Res
; 42: 101660, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794943
11.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.
Stem Cell Res
; 49: 102007, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33010677
12.
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients.
Clin Pharmacol Ther
; 108(2): 358-367, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243572
13.
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.
Stem Cell Res
; 35: 101393, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30711802
14.
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.
Stem Cell Res
; 41: 101620, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678772
15.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease.
Stem Cell Res
; 40: 101548, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31536868
16.
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
Stem Cell Res
; 41: 101623, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31698194
17.
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.
Stem Cell Res
; 41: 101580, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31644995