Joseph Gleeson
Overview
Explore the profile of Joseph Gleeson including associated specialties, affiliations and a list of published articles.
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Articles
21
Citations
554
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Recent Articles
1.
Mitchell S, Gleeson J, Tiwari M, Bailey F, Gaughran J, Mehra G, et al.
BJC Rep
. 2024 Nov;
2(1):50.
PMID: 39516671
Background: Ovarian cancer has the worst prognosis among all gynaecological cancers. The pre-operative and intraoperative diagnosis of ovarian tumours is imperative to ensure the right operation is performed and to...
2.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med
. 2024 Sep;
:101251.
PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
3.
Aughey G, Cali E, Maroofian R, Zaki M, Pagnamenta A, Rahman F, et al.
medRxiv
. 2024 May;
PMID: 38746364
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However,...
4.
Kaiyrzhanov R, Rad A, Lin S, Bertoli-Avella A, Kallemeijn W, Godwin A, et al.
Brain
. 2023 Nov;
147(4):1436-1456.
PMID: 37951597
The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However,...
5.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao K, Singer-Berk M, et al.
medRxiv
. 2023 Oct;
PMID: 37873196
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and with new innovative methods can now reliably be identified from exome sequencing. Challenges still remain...
6.
Mintz M, Badner V, Feldman L, Mintz P, Saraghi M, Diaz J, et al.
Psychopharmacol Bull
. 2022 Jul;
52(3):20-30.
PMID: 35815177
Objectives: The mechanism of many neuropsychiatric disorders remains unknown, but the ineffectiveness of the sodium channel blocker lidocaine has been suggested to be a biomarker for Attention Deficit Hyperactivity Disorder...
7.
Wang L, Sievert D, Clark A, Federman H, Gastfriend B, Shusta E, et al.
bioRxiv
. 2021 Feb;
PMID: 33594369
Clinical evidence suggests the central nervous system (CNS) is frequently impacted by SARS-CoV-2 infection, either directly or indirectly, although mechanisms remain unclear. Pericytes are perivascular cells within the brain that...
8.
Wang L, Sievert D, Gleeson J, Clark A, Carlin A, Federman H, et al.
Res Sq
. 2021 Feb;
PMID: 33594354
Clinical evidence suggests the central nervous system (CNS) is frequently impacted by SARS-CoV-2 infection, either directly or indirectly, although mechanisms remain unclear. Pericytes are perivascular cells within the brain that...
9.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, DAmore A, Eberhardt K, et al.
Brain
. 2020 Sep;
143(10):2929-2944.
PMID: 32979048
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47...
10.
Donkervoort S, Mohassel P, Laugwitz L, Zaki M, Kamsteeg E, Maroofian R, et al.
Am J Med Genet A
. 2020 Aug;
182(10):2272-2283.
PMID: 32776697
Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin-2 (SYT2), is the major isoform expressed at the...