Richard J White
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Explore the profile of Richard J White including associated specialties, affiliations and a list of published articles.
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51
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1271
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Recent Articles
1.
Topf A, Cox D, Zaharieva I, Di Leo V, Sarparanta J, Jonson P, et al.
Nat Genet
. 2024 Mar;
56(3):395-407.
PMID: 38429495
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field....
2.
Torraca V, White R, Sealy I, Mazon-Moya M, Duggan G, Willis A, et al.
Dis Model Mech
. 2023 Dec;
17(1).
PMID: 38131137
Shigella flexneri is a human-adapted pathovar of Escherichia coli that can invade the intestinal epithelium, causing inflammation and bacillary dysentery. Although an important human pathogen, the host response to S....
3.
Cherico A, White R, Shah D, Bhagavatula R
BMJ Case Rep
. 2022 Oct;
15(10).
PMID: 36207054
Antiphospholipid syndrome (APS) is an uncommon autoantibody-mediated condition characterised by acquired thrombophilia resulting in recurrent arterial and venous thrombosis. An inciting factor allows for the exposure of endothelial phospholipids, causing...
4.
Tuschl K, White R, Trivedi C, Valdivia L, Niklaus S, Bianco I, et al.
Dis Model Mech
. 2022 May;
15(6).
PMID: 35514229
Manganese neurotoxicity is a hallmark of hypermanganesemia with dystonia 2, an inherited manganese transporter defect caused by mutations in SLC39A14. To identify novel potential targets of manganese neurotoxicity, we performed...
5.
White R, Mackay E, Wilson S, Busch-Nentwich E
Elife
. 2022 Feb;
11.
PMID: 35175196
In model organisms, RNA-sequencing (RNA-seq) is frequently used to assess the effect of genetic mutations on cellular and developmental processes. Typically, animals heterozygous for a mutation are crossed to produce...
6.
Wali N, Merteroglu M, White R, Busch-Nentwich E
Bio Protoc
. 2022 Feb;
12(1):e4284.
PMID: 35118175
RNA sequencing allows for the quantification of the transcriptome of embryos to investigate transcriptional responses to various perturbations (., mutations, infections, drug treatments). Previous protocols either lack the option to...
7.
Mech A, Merteroglu M, Sealy I, Teh M, White R, Havelange W, et al.
Front Psychiatry
. 2022 Jan;
12:795175.
PMID: 35082702
Developmental consequences of prenatal drug exposure have been reported in many human cohorts and animal studies. The long-lasting impact on the offspring-including motor and cognitive impairments, cranial and cardiac anomalies...
8.
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein
Wilson M, Rajan S, Danoff A, White R, Hensley M, Quinlivan V, et al.
PLoS Genet
. 2020 Aug;
16(8):e1008941.
PMID: 32760060
Apolipoprotein B-containing lipoproteins (B-lps) are essential for the transport of hydrophobic dietary and endogenous lipids through the circulation in vertebrates. Zebrafish embryos produce large numbers of B-lps in the yolk...
9.
Jayakrishnan T, White R, Greenberg L, Colonias A, Wegner R
Laryngoscope Investig Otolaryngol
. 2020 Jun;
5(3):445-452.
PMID: 32596486
Background: Squamous cell carcinoma (SCC) of larynx is a common head and neck cancer. For cases that are node negative, the role of definitive concurrent chemoradiation is unclear and not...
10.
White R, Abel S, Horne Z, Lee J, Edington H, Greenberg L, et al.
J Neurooncol
. 2020 Jun;
149(1):27-33.
PMID: 32556863
Purpose: Immunotherapy has demonstrated efficacy in treatment of intracranial metastasis from melanoma, calling into question the role of intracranial radiotherapy (RT). Herein, we assessed the utilization patterns of intracranial RT...