Detalhe da pesquisa
1.
Transcriptional regulators of the Golli/myelin basic protein locus integrate additive and stealth activities.
PLoS Genet
; 16(8): e1008752, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32790717
2.
Self-labelled encoder-decoder (SLED) for multi-echo gradient echo-based myelin water imaging.
Neuroimage
; 264: 119717, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36367497
3.
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
Gastroenterology
; 160(7): 2483-2495.e26, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675743
4.
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
J Hepatol
; 75(3): 572-581, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033851
5.
Variation at DENND1B and Asthma on the Island of Tristan da Cunha.
Twin Res Hum Genet
; 22(5): 277-282, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608842
6.
Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].
J Hepatol
; 78(4): 883, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639314
7.
Corrigendum to 'An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs' [J Hepatol 2021;75(3):572-581].
J Hepatol
; 76(2): 489, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34895949
8.
Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome.
Clin Immunol
; 168: 25-29, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27109640
9.
Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.
Am J Hum Genet
; 92(1): 15-27, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261300
10.
Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway.
PLoS Genet
; 9(5): e1003487, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696745
11.
Hepatocyte-specific Ptpn6 deletion promotes hepatic lipid accretion, but reduces NAFLD in diet-induced obesity: potential role of PPARγ.
Hepatology
; 59(5): 1803-15, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24327268
12.
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
Hum Mol Genet
; 21(23): 5209-21, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22936693
13.
N-WASp is required for Schwann cell cytoskeletal dynamics, normal myelin gene expression and peripheral nerve myelination.
Development
; 138(7): 1329-37, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21385763
14.
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
Arthritis Rheum
; 65(9): 2457-68, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740775
15.
Ras-guanine-nucleotide-releasing factors 1 and 2 interact with PLCγ at focal adhesions to enable IL-1-induced Ca(2+) signalling, ERK activation and MMP-3 expression.
Biochem J
; 449(3): 771-82, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23145787
16.
Pervasive sharing of genetic effects in autoimmune disease.
PLoS Genet
; 7(8): e1002254, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21852963
17.
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
PLoS Genet
; 7(2): e1002004, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21383967
18.
The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease.
Biochim Biophys Acta
; 1818(3): 559-65, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22206629
19.
Corrigendum to "Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome" [Clin. Immunol. 168 (2016) 25-29].
Clin Immunol
; 187: 137-138, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29195081
20.
Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations.
Radiology
; 269(1): 68-76, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23771913