Detalhe da pesquisa
1.
The leucine zipper domain of the transcriptional repressor Opi1 underlies a signal transduction mechanism regulating lipid synthesis.
J Biol Chem
; 299(12): 105417, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37918807
2.
A mouse model of inherited choline kinase ß-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia.
J Biol Chem
; 298(3): 101716, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151687
3.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
4.
COVID-19 vaccine hesitancy in inflammatory arthritis patients: serial surveys from a large longitudinal national Australian cohort.
Rheumatology (Oxford)
; 62(4): 1460-1466, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36069664
5.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202461
6.
Developing a deep learning natural language processing algorithm for automated reporting of adverse drug reactions.
J Biomed Inform
; 137: 104265, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36464227
7.
Genetic diseases of the Kennedy pathways for membrane synthesis.
J Biol Chem
; 295(51): 17877-17886, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454021
8.
Abnormalities at three musculoskeletal sites on whole-body positron emission tomography/computed tomography can diagnose polymyalgia rheumatica with high sensitivity and specificity.
Eur J Nucl Med Mol Imaging
; 47(10): 2461-2468, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32090280
9.
Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9.
Nucleic Acids Res
; 46(17): e102, 2018 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905858
10.
Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina.
Dev Dyn
; 248(12): 1243-1256, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31566834
11.
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
PLoS Genet
; 12(1): e1005783, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26821380
12.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain
; 140(3): 547-554, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052917
13.
Choline kinase inhibition promotes ER-phagy.
J Lipid Res
; 63(8): 100213, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35447137
14.
Comment on: Deep learning algorithms for magnetic resonance imaging of inflammatory sacroiliitis in axial spondyloarthritis.
Rheumatology (Oxford)
; 61(10): e316-e317, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416954
15.
Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy.
CMAJ
; 194(44): E1500-E1508, 2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379551
16.
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Brain
; 144(3): e30, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454747
17.
Germline mutations in MAP3K6 are associated with familial gastric cancer.
PLoS Genet
; 10(10): e1004669, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340522
18.
Lipid synthesis and membrane contact sites: a crossroads for cellular physiology.
J Lipid Res
; 57(10): 1789-1805, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27521373
19.
The mitochondrial quality control protein Yme1 is necessary to prevent defective mitophagy in a yeast model of Barth syndrome.
J Biol Chem
; 290(14): 9284-98, 2015 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25688091
20.
Comment on: Epidemiology of biopsy-confirmed giant cell arteritis in southern Sweden-an update on incidence and first prevalence estimate.
Rheumatology (Oxford)
; 60(11): e421-e422, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264311