Results 211 to 220 of about 286,988 (401)

Unsupervised Evolutionary Cell Type Matching via Entropy-Minimized Optimal Transport [PDF]

open access: yesarXiv
Identifying evolutionary correspondences between cell types across species is a fundamental challenge in comparative genomics and evolutionary biology. Existing approaches often rely on either reference-based matching, which imposes asymmetry by designating one species as the reference, or projection-based matching, which may increase computational ...
arxiv  

Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices

open access: yesClinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 292-301, April 2025.
ABSTRACT With the increased availability of genetic testing and the addition of mitochondrial genetic variants on disease panels, accurate genetic counselling for individuals and families affected by, or at risk of, Leber hereditary optic neuropathy (LHON) is becoming increasingly relevant.
Lisa S. Kearns   +2 more
wiley   +1 more source

Progress in Translating Glaucoma Genetics Into the Clinic: A Review

open access: yesClinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 246-259, April 2025.
ABSTRACT Precision medicine is paving the way for personalised risk assessment, and its translation into glaucoma clinics holds potential to change current management paradigms. Our understanding of glaucoma's genetic architecture has expanded in recent years, recognising both monogenic and polygenic contributions.
Antonia Kolovos   +3 more
wiley   +1 more source

Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review

open access: yesClinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 260-280, April 2025.
ABSTRACT Phototransduction, the process by which captured photons elicit electrical changes in retinal rod and cone cells, represents the first neuronal step in vision and involves interactions between several highly specialised proteins. Pathogenic variants in genes encoding many of these proteins can give rise to significant vision impairment ...
Wendy M. Wong, Omar A. Mahroo
wiley   +1 more source

Veratridine increases the survival of retinal ganglion cells in vitro [PDF]

open access: gold, 1997
S.P.F. Pereira   +1 more
openalex   +1 more source

Genetic Association of Primary Angle‐Closure Glaucoma and Disease Progression

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To investigate single‐nucleotide polymorphisms (SNPs) reported in the largest up‐to‐date systematic review and meta‐analysis on primary angle‐closure disease (PACD), on their associations with primary angle‐closure glaucoma (PACG) and disease progression.
Yu Jing Liang   +6 more
wiley   +1 more source

Stepwise Differentiation of Retinal Ganglion Cells from Human Pluripotent Stem Cells Enables Analysis of Glaucomatous Neurodegeneration

open access: yesStem Cells, 2016
Sarah K. Ohlemacher   +6 more
semanticscholar   +1 more source

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