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Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.
JAMA Netw Open
January 2025
Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, Massachusetts.
Importance: CHEK2 pathogenic and likely pathogenic variants (PVs) are common, and low-risk (LR) variants, p.I157T, p.S428F, and p.
View Article and Find Full Text PDFTen-Year Change in Visual Function and Incidence of Visual Impairment in Highly Myopic Children and Adults.
Invest Ophthalmol Vis Sci
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State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, China.
Purpose: To investigate the 10-year changes in visual function and incidence of visual impairment (VI) in highly myopic eyes.
Methods: This longitudinal study enrolled highly myopic individuals who were followed up for 10 years. All participants underwent detailed ophthalmic examinations at baseline and follow-up visits.
Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.
Invest Ophthalmol Vis Sci
January 2025
Institute for Applied Mathematics, University of Bonn, Bonn, Germany.
Purpose: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations in RPE65 (RPE65-IRD) in patients before and after subretinal gene augmentation therapy with voretigene neparvovec (Luxturna).
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Design and Generation of TEMPO Reagents for Sequential Labeling and Manipulation of Vertebrate Cell Lineages.
Methods Mol Biol
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Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA, USA.
During development, cells undergo a sequence of specification events to form functional tissues and organs. To investigate complex tissue development, it is crucial to visualize how cell lineages emerge and to be able to manipulate regulatory factors with temporal control. We recently developed TEMPO (Temporal Encoding and Manipulation in a Predefined Order), a genetic tool to label with different colors and genetically manipulate consecutive cell generations in vertebrates.
View Article and Find Full Text PDFLineage Tracing by Light-Sheet Microscopy and Computational Reconstruction.
Methods Mol Biol
January 2025
Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology Hellas, Heraklion, Crete, Greece.
Lineage tracing based on modern live imaging approaches enables to visualize, reconstruct, and analyze the developmental history, fate, and dynamic behaviors of cells in vivo in a direct, comprehensive, and quantitative manner. Light-sheet fluorescence microscopy (LSFM) has greatly boosted lineage tracing efforts, because fluorescently labeled specimens can be imaged in their entirety, over long periods of time, with high spatiotemporal resolution and minimal photodamage. In addition, an increasing arsenal of commercial and open-source software solutions for cell and nuclei segmentation and tracking can be employed to convert data from pixel-based to object-based representations, and to reconstruct the lineages of cells in their native context as they organize in tissues, organs, and whole organisms.
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