Results 11 to 20 of about 3,248,315 (198)

Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]

open access: yes, 2018
We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James   +8 more
core   +3 more sources

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

open access: yesBMC Ophthalmology, 2017
Background Inherited Retinal dystrophy (IRD) is a broad group of inherited retinal disorders with heterogeneous genotypes and phenotypes. Next generation sequencing (NGS) methods have been broadly applied for analyzing patients with IRD. Here we report a
Xinjing Wang   +9 more
doaj   +1 more source

Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation

open access: yesEpigenetics & Chromatin, 2022
Background Methylation at cytosines (mCG) is a well-known regulator of gene expression, but its requirements for cellular differentiation have yet to be fully elucidated. A well-studied cellular differentiation model system is the eye lens, consisting of
Joshua Disatham   +5 more
doaj   +1 more source

Spotlight the Negatives: A Generalized Discriminative Latent Model [PDF]

open access: yes, 2015
Discriminative latent variable models (LVM) are frequently applied to various visual recognition tasks. In these systems the latent (hidden) variables provide a formalism for modeling structured variation of visual features.
Arefiyan, Mostafa   +3 more
core   +1 more source

Retinal Development and Pathophysiology in Kcnj13 Knockout Mice

open access: yesFrontiers in Cell and Developmental Biology, 2022
Purpose: We constructed and characterized knockout and conditional knockout mice for KCNJ13, encoding the inwardly rectifying K+ channel of the Kir superfamily Kir7.1, mutations in which cause both Snowflake Vitreoretinal Degeneration (SVD) and Retinitis
Xiaodong Jiao   +10 more
doaj   +1 more source

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

open access: yesCell & Bioscience, 2017
Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene.
Jackson Gao   +7 more
doaj   +1 more source

Kaempferol Inhibits Dry Eye-Related Corneal Inflammation In Vitro Via the p38 Pathway

open access: yesNatural Product Communications, 2022
Objective The purpose of this study is to investigate the effect of kaempferol (KAE), an effective constituent of Buddleja officinalis , on human corneal epithelial cells (HCECs) under a hyperosmolar environment.
Dong-dong Li   +5 more
doaj   +1 more source

Serial position effects in 2-alternative forced choice recognition: Functional equivalence across visual and auditory modalities [PDF]

open access: yes, 2009
Two experiments examined Ward, Avons and Melling’s (2005) proposition that the serial position function is task, rather than modality, dependent. Specifically, they proposed that for backward testing the 2-alternative forced choice (2AFC) recognition ...
Johnson, A.J., Miles, C.
core   +1 more source

Bibliometric Analysis of Artificial Intelligence in Diabetic Retinopathy [PDF]

open access: yesZhongguo quanke yixue, 2023
Background In recent years, artificial intelligence (AI) has shown rapid development in the medical field, and its application in diabetic retinopathy (DR) has been expanding.
LIU Chun, JIAN Wenyuan, DUAN Junguo
doaj   +1 more source

Time-locked perceptual fading induced by visual transients [PDF]

open access: yes, 2003
After prolonged fixation, a stationary object placed in the peripheral visual field fades and disappears from our visual awareness, especially at low luminance contrast (the Troxler effect).
Kamitani, Yukiyasu, Kanai, Ryota
core   +2 more sources

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