Detalhe da pesquisa
1.
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.
Biochem Biophys Res Commun
; 512(2): 421-427, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30902390
2.
Negative regulation of the hepatic fibrogenic response by suppressor of cytokine signaling 1.
Cytokine
; 82: 58-69, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26748724
3.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 136(2): 402-12, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724123
4.
Hepatic stellate cell-intrinsic role of SOCS1 in controlling hepatic fibrogenic response and the pro-inflammatory macrophage compartment during liver fibrosis.
Front Immunol
; 14: 1259246, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860002
5.
A case of hyperlysinemia identified by urine newborn screening.
JIMD Rep
; 64(6): 440-445, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927488
6.
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.
Mol Genet Metab Rep
; 35: 100961, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941958
7.
SOCS1 Deficiency Promotes Hepatocellular Carcinoma via SOCS3-Dependent CDKN1A Induction and NRF2 Activation.
Cancers (Basel)
; 15(3)2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765862
8.
SOCS1 controls liver regeneration by regulating HGF signaling in hepatocytes.
J Hepatol
; 55(6): 1300-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21703184
9.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
J Allergy Clin Immunol
; 125(2): 424-432.e8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159255
10.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
J Allergy Clin Immunol
; 124(6): 1289-302.e4, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004785
11.
IgA deficiency: correlation between clinical and immunological phenotypes.
J Clin Immunol
; 29(1): 130-6, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18683032
12.
Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.
J Dent Child (Chic)
; 86(1): 61-63, 2019 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992103
13.
Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome.
Int Arch Allergy Immunol
; 146(3): 190-4, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18268386
14.
Severe combined immunodeficiency: a cohort of 40 patients.
Pediatr Allergy Immunol
; 19(4): 303-6, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18093084
15.
Genotype-phenotype correlation in Bruton's tyrosine kinase deficiency.
J Pediatr Hematol Oncol
; 30(9): 679-83, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18776760
16.
Novel BTK mutation presenting with vaccine-associated paralytic poliomyelitis.
Eur J Pediatr
; 167(11): 1335-8, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18317803
17.
Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.
Brain Dev
; 29(2): 124-6, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16949240
18.
Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report.
Seizure
; 74: 31-32, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31812089
19.
Tumour-promoting role of SOCS1 in colorectal cancer cells.
Sci Rep
; 5: 14301, 2015 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26391193
20.
Regulation of MET receptor signaling by SOCS1 and its implications for hepatocellular carcinoma.
Curr Pharm Des
; 20(17): 2922-33, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-23944359