Anik St-Denis
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Explore the profile of Anik St-Denis including associated specialties, affiliations and a list of published articles.
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9
Citations
244
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Recent Articles
1.
Johnstone D, Nguyen T, Zambonin J, Kernohan K, St-Denis A, Baratang N, et al.
J Inherit Metab Dis
. 2020 Jun;
43(6):1321-1332.
PMID: 32588908
We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis...
2.
Nguyen T, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, et al.
Am J Hum Genet
. 2020 Mar;
106(4):484-495.
PMID: 32220290
Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins...
3.
Nguyen T, Murakami Y, Wigby K, Baratang N, Rousseau J, St-Denis A, et al.
Am J Hum Genet
. 2018 Oct;
103(4):602-611.
PMID: 30269814
Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs...
4.
Nguyen T, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, et al.
Am J Hum Genet
. 2017 Nov;
101(5):856-865.
PMID: 29100095
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To...
5.
Johnstone D, Nguyen T, Murakami Y, Kernohan K, Tetreault M, Goldsmith C, et al.
Hum Mol Genet
. 2017 Mar;
26(9):1706-1715.
PMID: 28334793
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly...
6.
Edvardson S, Murakami Y, Nguyen T, Shahrour M, St-Denis A, Shaag A, et al.
J Med Genet
. 2016 Oct;
54(3):196-201.
PMID: 27694521
Background: Of our 1400 exome-studied patients, 67% originate from consanguineous families. ∼80% suffer from variable degree of intellectual disability (ID). The search for disease causing genes using homozygosity mapping was...
7.
Poulin S, Corbeil C, Nguyen M, St-Denis A, Cote L, Le Deist F, et al.
BMC Infect Dis
. 2013 Jan;
13:24.
PMID: 23336346
Background: Reports of acquired immunodeficiency due to autoantibodies against interferon gamma in the adult population are increasing. The interleukin-12-dependent interferon-gamma axis is a major regulatory pathway of cell-mediated immunity and...
8.
Shen Z, St-Denis A, Chartrand P
Genes Dev
. 2010 Aug;
24(17):1914-26.
PMID: 20713510
Pre-mRNA processing is coupled with transcription. It is still unclear if the transcription machinery can also directly affect the cytoplasmic fate of a transcript, such as its intracellular localization. In...
9.
Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire M, et al.
Ann Neurol
. 2005 Feb;
57(3):408-14.
PMID: 15732101
Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased alpha-fetoprotein levels. In this study, we evaluated 24 ataxic...