James A Poulter
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Explore the profile of James A Poulter including associated specialties, affiliations and a list of published articles.
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67
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1658
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Recent Articles
1.
Topping J, Chang L, Nadat F, Poulter J, Ibbotson A, Lara-Reyna S, et al.
Arthritis Rheumatol
. 2024 Nov;
PMID: 39492681
Objective: Adult-onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a...
2.
King A, Maisey T, Harris E, Poulter J, Jayne D, Khot M
Photochem Photobiol Sci
. 2024 Apr;
23(6):1067-1075.
PMID: 38625651
Photodynamic Therapy (PDT) is an emerging method to treat colorectal cancers (CRC). Hypericin (HYP) is an effective mediator of PDT and the ABCG2 inhibitor, Febuxostat (FBX) could augment PDT. HT29...
3.
Smith C, Laugel-Haushalter V, Hany U, Best S, Taylor R, Poulter J, et al.
J Med Genet
. 2024 Mar;
61(7):689-698.
PMID: 38458752
Background: Plexins are large transmembrane receptors for the semaphorin family of signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages....
4.
Tanner G, Barrow R, Ajaib S, Al-Jabri M, Ahmed N, Pollock S, et al.
Genome Biol
. 2024 Feb;
25(1):45.
PMID: 38326875
Background: Glioblastoma (GBM) brain tumors lacking IDH1 mutations (IDHwt) have the worst prognosis of all brain neoplasms. Patients receive surgery and chemoradiotherapy but tumors almost always fatally recur. Results: Using...
5.
Harris E, Roy V, Montagne M, Rose A, Livesey H, Reijnders M, et al.
Am J Hum Genet
. 2023 Dec;
111(1):119-132.
PMID: 38141607
Cyclin D2 (CCND2) stabilization underpins a range of macrocephaly-associated disorders through mutation of CCND2 or activating mutations in upstream genes encoding PI3K-AKT pathway components. Here, we describe three individuals with...
6.
Hany U, Watson C, Liu L, Smith C, Harfoush A, Poulter J, et al.
J Med Genet
. 2023 Nov;
61(4):347-355.
PMID: 37979963
Background: Collagen XVII is most typically associated with human disease when biallelic variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI),...
7.
Saleban M, Harris E, Poulter J
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510349
D-type cyclins encode G1/S cell cycle checkpoint proteins, which play a crucial role in defining cell cycle exit and progression. Precise control of cell cycle exit is vital during embryonic...
8.
Reijnders M, Seibt A, Brugger M, Lamers I, Ott T, Klaas O, et al.
Genet Med
. 2023 Apr;
25(7):100838.
PMID: 37057673
Purpose: Mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) regulates cell growth in response to nutritional status. Central to the mTORC1 function is the Rag-GTPase heterodimer. One component of the...
9.
McClinton B, Crinnion L, McKibbin M, Mukherjee R, Poulter J, Smith C, et al.
Mol Genet Genomic Med
. 2023 Mar;
11(6):e2164.
PMID: 36934458
Background: The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous...
10.
Panneman D, Hitti-Malin R, Holtes L, de Bruijn S, Reurink J, Boonen E, et al.
Front Cell Dev Biol
. 2023 Feb;
11:1112270.
PMID: 36819107
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A...