Detalhe da pesquisa
1.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol
; 43(6): 1436-1447, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171742
2.
The equilibrative nucleoside transporter ENT1 is critical for nucleotide homeostasis and optimal erythropoiesis.
Blood
; 137(25): 3548-3562, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33690842
3.
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Nature
; 510(7504): 288-92, 2014 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24870241
4.
Fasting upregulates the monocarboxylate transporter MCT1 at the rat blood-brain barrier through PPAR δ activation.
Fluids Barriers CNS
; 21(1): 33, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38589879
5.
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
Mov Disord Clin Pract
; 10(5): 811-818, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205256
6.
Low-dose mycophenolate mofetil improves survival in a murine model of Staphylococcus aureus sepsis by increasing bacterial clearance and phagocyte function.
Front Immunol
; 13: 939213, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35936013
7.
Lack of Skeletal Muscle Serotonin Impairs Physical Performance.
Int J Tryptophan Res
; 14: 11786469211003109, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33814916
8.
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
JCI Insight
; 5(5)2020 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161190
9.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Eur J Med Genet
; 63(11): 104033, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32781272
10.
CTP synthetase activity assay by liquid chromatography tandem mass spectrometry in the multiple reaction monitoring mode.
J Mass Spectrom
; 54(11): 885-893, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31524312
11.
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Nat Commun
; 10(1): 3967, 2019 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481669
12.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Nat Genet
; 49(10): 1529-1538, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28805828
13.
Contiguous mutation syndrome in the era of high-throughput sequencing.
Mol Genet Genomic Med
; 3(3): 215-20, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26029708
14.
Defective inhibition of peripheral CD8+ T cell IL-2 production by anti-calcineurin drugs during acute liver allograft rejection.
Transplantation
; 77(12): 1815-20, 2004 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-15223897
15.
Thiopurine methyltransferase activity: new conditions for reversed-phase high-performance liquid chromatographic assay without extraction and genotypic-phenotypic correlation.
J Chromatogr B Analyt Technol Biomed Life Sci
; 773(2): 119-27, 2002 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-12031837
16.
Expression of calcineurin activity after lung transplantation: a 2-year follow-up.
PLoS One
; 8(3): e59634, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23536885