Detalhe da pesquisa
1.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(4): 739-748, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33711248
2.
A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells.
Lipids Health Dis
; 23(1): 48, 2024 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38365720
3.
Deubiquitinating enzymes USP4 and USP17 finetune the trafficking of PDGFRß and affect PDGF-BB-induced STAT3 signalling.
Cell Mol Life Sci
; 79(2): 85, 2022 Jan 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35064336
4.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 109(3): 542-546, 2022 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35245475
5.
CRISPR-Cas9-mediated knockout of SPRY2 in human hepatocytes leads to increased glucose uptake and lipid droplet accumulation.
BMC Endocr Disord
; 19(1): 115, 2019 Oct 29.
Artigo
Inglês
| MEDLINE | ID: mdl-31664995
6.
Drosophila exoribonuclease nibbler is a tumor suppressor, acts within the RNAi machinery and is not enriched in the nuage during early oogenesis.
Hereditas
; 155: 12, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-28974923
7.
BANK1 controls CpG-induced IL-6 secretion via a p38 and MNK1/2/eIF4E translation initiation pathway.
J Immunol
; 191(12): 6110-6, 2013 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24227780
8.
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
Nat Genet
; 32(4): 666-9, 2002 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-12402038
9.
Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.
Ann Rheum Dis
; 71(1): 136-42, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21978998
10.
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
Ann Rheum Dis
; 71(7): 1219-26, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22696686
11.
CD44 Depletion in Glioblastoma Cells Suppresses Growth and Stemness and Induces Senescence.
Cancers (Basel)
; 14(15)2022 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35954411
12.
SIDT1 plays a key role in type I IFN responses to nucleic acids in plasmacytoid dendritic cells and mediates the pathogenesis of an imiquimod-induced psoriasis model.
EBioMedicine
; 76: 103808, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35065421
13.
Organ-specific metabolic pathways distinguish prediabetes, type 2 diabetes, and normal tissues.
Cell Rep Med
; 3(10): 100763, 2022 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36198307
14.
Proof-of-concept for CRISPR/Cas9 gene editing in human preadipocytes: Deletion of FKBP5 and PPARG and effects on adipocyte differentiation and metabolism.
Sci Rep
; 10(1): 10565, 2020 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-32601291
15.
Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation.
iScience
; 20: 42-59, 2019 Oct 25.
Artigo
Inglês
| MEDLINE | ID: mdl-31557715
16.
FKBP5 expression in human adipose tissue: potential role in glucose and lipid metabolism, adipogenesis and type 2 diabetes.
Endocrine
; 62(1): 116-128, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30032404
17.
Role of peroxisome proliferator-activated receptor gamma Pro12Ala polymorphism in human adipose tissue: assessment of adipogenesis and adipocyte glucose and lipid turnover.
Adipocyte
; 7(4): 285-296, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30064293
18.
Glucose challenge metabolomics implicates medium-chain acylcarnitines in insulin resistance.
Sci Rep
; 8(1): 8691, 2018 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29875472
19.
Expression and regulation of Spätzle-processing enzyme in Drosophila.
FEBS Lett
; 580(22): 5406-10, 2006 Oct 02.
Artigo
Inglês
| MEDLINE | ID: mdl-16996061
20.
BANK1 and BLK act through phospholipase C gamma 2 in B-cell signaling.
PLoS One
; 8(3): e59842, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23555801