AIMC Topic: Eye Proteins
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Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
International journal of molecular sciences
Oct 30, 2024
Understanding the effect of single-missense mutations on protein stability is crucial for clinical decision-making and therapeutic development. The impact of these mutations on protein stability and 3D structure remains underexplored. Here, we develo...
PEDF, a pleiotropic WTC-LI biomarker: Machine learning biomarker identification and validation.
PLoS computational biology
Jul 21, 2021
Biomarkers predict World Trade Center-Lung Injury (WTC-LI); however, there remains unaddressed multicollinearity in our serum cytokines, chemokines, and high-throughput platform datasets used to phenotype WTC-disease. To address this concern, we used...
Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.
The British journal of ophthalmology
Apr 20, 2021
BACKGROUND/AIMS: To investigate the utility of a data-driven deep learning approach in patients with inherited retinal disorder (IRD) and to predict the causative genes based on fundus photography and fundus autofluorescence (FAF) imaging.
S100 proteins, cytokines, and chemokines as tear biomarkers in children with juvenile idiopathic arthritis-associated uveitis.
Ocular immunology and inflammation
May 28, 2020
PURPOSE: Biomarkers for juvenile idiopathic arthritis-associated uveitis (JIA-U) are needed. We aimed to measure inflammatory biomarkers in tears as a non-invasive method to identify biomarkers of uveitis activity.
Exploration of potential key pathways and genes in multiple ocular cancers through bioinformatics analysis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Jul 15, 2019
PURPOSE: Primary cancers of the eye are common in ocular diseases. The objective of this study was to explore the underlying mechanisms and the potential target genes in multiple ocular cancers by bioinformatics approach.
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
Investigative ophthalmology & visual science
Jan 2, 2024
PURPOSE: To characterize the clinical effects of two RP1L1 hotspots in patients with East Asian occult macular dystrophy (OMD).
Deep Learning-Facilitated Study of the Rate of Change in Photoreceptor Outer Segment Metrics in RPGR-Related X-Linked Retinitis Pigmentosa.
Investigative ophthalmology & visual science
Nov 1, 2023
PURPOSE: The aim of this retrospective cohort study was to obtain three-dimensional (3D) photoreceptor outer segment (OS) metrics measurements with the assistance of a deep learning model (DLM) and to evaluate the longitudinal change in OS metrics an...
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