Arthur J Campbell
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Explore the profile of Arthur J Campbell including associated specialties, affiliations and a list of published articles.
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34
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799
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Recent Articles
1.
Kwon S, Safer J, Nguyen D, Hoksza D, May P, Arbesfeld J, et al.
Nat Methods
. 2024 Sep;
21(10):1947-1957.
PMID: 39294369
Recent advances in AI-based methods have revolutionized the field of structural biology. Concomitantly, high-throughput sequencing and functional genomics have generated genetic variants at an unprecedented scale. However, efficient tools and...
2.
Placzek M, Wilton D, Weiwer M, Manter M, Reid S, Meyer C, et al.
ACS Cent Sci
. 2024 May;
10(5):1105-1114.
PMID: 38799654
Cyclooxygenase-2 (COX-2) is an enzyme that plays a pivotal role in peripheral inflammation and pain via the prostaglandin pathway. In the central nervous system (CNS), COX-2 is implicated in neurodegenerative...
3.
Shepard N, Baez-Nieto D, Iqbal S, Kurganov E, Budnik N, Campbell A, et al.
Sci Rep
. 2024 Feb;
14(1):2798.
PMID: 38307912
Human genetic studies have revealed rare missense and protein-truncating variants in GRIN2A, encoding for the GluN2A subunit of the NMDA receptors, that confer significant risk for schizophrenia (SCZ). Mutations in...
4.
Kwon S, Safer J, Nguyen D, Hoksza D, May P, Arbesfeld J, et al.
bioRxiv
. 2024 Jan;
PMID: 38260256
Recent advances in AI-based methods have revolutionized the field of structural biology. Concomitantly, high-throughput sequencing and functional genomics technologies have enabled the detection and generation of variants at an unprecedented...
5.
Iqbal S, Brunger T, Perez-Palma E, Macnee M, Brunklaus A, Daly M, et al.
Brain
. 2022 Oct;
146(2):519-533.
PMID: 36256779
Neurodevelopmental disorders (NDDs), including severe paediatric epilepsy, autism and intellectual disabilities are heterogeneous conditions in which clinical genetic testing can often identify a pathogenic variant. For many of them, genetic...
6.
Miller P, Sathappa M, Moroco J, Jiang W, Qian Y, Iqbal S, et al.
Nat Commun
. 2022 Jun;
13(1):3778.
PMID: 35773251
PPM1D encodes a serine/threonine phosphatase that regulates numerous pathways including the DNA damage response and p53. Activating mutations and amplification of PPM1D are found across numerous cancer types. GSK2830371 is...
7.
Characterization of intrinsically disordered regions in proteins informed by human genetic diversity
Ahmed S, Rifat Z, Lohia R, Campbell A, Dunker A, Sohel Rahman M, et al.
PLoS Comput Biol
. 2022 Mar;
18(3):e1009911.
PMID: 35275927
All proteomes contain both proteins and polypeptide segments that don't form a defined three-dimensional structure yet are biologically active-called intrinsically disordered proteins and regions (IDPs and IDRs). Most of these...
8.
Johannesen K, Iqbal S, Guazzi M, Mohammadi N, Perez-Palma E, Schaefer E, et al.
Genet Med
. 2021 Dec;
24(3):681-693.
PMID: 34906499
Purpose: Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability (ID). In...
9.
McKinney D, McMillan B, Ranaghan M, Moroco J, Brousseau M, Mullin-Bernstein Z, et al.
J Med Chem
. 2021 Aug;
64(15):11148-11168.
PMID: 34342224
PRMT5 and its substrate adaptor proteins (SAPs), pICln and Riok1, are synthetic lethal dependencies in MTAP-deleted cancer cells. SAPs share a conserved PRMT5 binding motif (PBM) which mediates binding to...
10.
Mendez R, Iqbal S, Vishnopolska S, Martinez C, Dibner G, Aliano R, et al.
Ophthalmic Genet
. 2021 Feb;
42(3):291-295.
PMID: 33599182
: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the...