Results 21 to 30 of about 8,270,013 (310)

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

BMC 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, Wadih M. Zein, Leera D’Souza, Chimere Roberson, Keith Wetherby, Hong He, Angela Villarta, Amy Turriff, Kory R. Johnson, Yang C. Fann   +9 more
doaj   +1 more source

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

Epigenetics & 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, Lisa Brennan, Xiaodong Jiao, Zhiwei Ma, J. Fielding Hejtmancik, Marc Kantorow   +5 more
doaj   +1 more source

Visual function assessment of diagnostic radiography students [PDF]

, 2019
Introduction: Deterioration of visual acuity (VA) and visual impairment has been linked to age-related subtle changes, gender, and a correlation to socioeconomic status.
Lockwood, P., Blackman, A.
core   +1 more source

Retinal Development and Pathophysiology in Kcnj13 Knockout Mice

Frontiers 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, Zhiwei Ma, Jingqi Lei, Pinghu Liu, Xiaoyu Cai, Pawan K. Shahi, Chi-Chao Chan, Robert Fariss, Bikash R. Pattnaik, Lijin Dong, J. Fielding Hejtmancik   +10 more
doaj   +1 more source

Is the NEI-VFQ-25 a useful tool in identifying visual impairment in an elderly population? [PDF]

, 2006
BACKGROUND: The use of self-report questionnaires to substitute for visual acuity measurement has been limited. We examined the association between visual impairment and self reported visual function in a population sample of older people in the UK ...
Fletcher, AE, Evans, JR, Wormald, Richard PL, Rudnicka, AR, Fletcher, Astrid E, Smeeth Liam, Rudnicka, Alicja R, Alicja R Rudnicka, Wormald Richard PL, Jennifer R Evans, Fletcher Astrid E, Rudnicka Alicja R, Owen, Christopher G, Liam Smeeth, Richard PL Wormald, Astrid E Fletcher, Evans, Jennifer R, Evans Jennifer R, Smeeth, Liam, Owen, CG, Owen Christopher G, Smeeth, L, Christopher G Owen, Wormald, RP   +23 more
core   +2 more sources

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

Cell & 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, Leera D’Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David R. Adams, Santa Tumminia, Xinjing Wang   +7 more
doaj   +1 more source

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

Natural 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, Jie Li, Yu Huang, Jian Shi, Yijing Yang, Qing-hua Peng   +5 more
doaj   +1 more source

Preserved local but disrupted contextual figure-ground influences in an individual with abnormal function of intermediate visual areas. [PDF]

, 2012
Visual perception depends not only on local stimulus features but also on their relationship to the surrounding stimulus context, as evident in both local and contextual influences on figure-ground segmentation.
Brooks, Joseph L., Bentin, S, Driver, Jon, Brooks, Joseph L, Rees, G, Jon Driver, Driver, J, Brooks, JL, Gilaie-Dotan, Sharon, Gilaie-Dotan, S, Geraint Rees, Rees, Geraint, Bentin, Shlomo, Sharon Gilaie-Dotan, Joseph L. Brooks, Shlomo Bentin   +15 more
core   +1 more source

Regulatory considerations for developing a phase I investigational new drug application for autologous induced pluripotent stem cells‐based therapy product

Stem Cells Translational Medicine, 2021
Induced pluripotent stem cells (iPSC)‐based therapies have been hailed as the future of regenerative medicine because of their potential to provide treatment options for most degenerative diseases. A key promise of iPSC‐based therapies is the possibility
Balendu Shekhar Jha, Mitra Farnoodian, Kapil Bharti   +2 more
doaj   +1 more source

Reading Performance in Children with Visual Function Anomalies [PDF]

, 2014
Aims: To compare reading performance in children with and without visual function anomalies and identify the influence of abnormal visual function and other variables in reading ability. Methods: A cross-sectional study was carried in 110 children of
Lança, Carla, Prista, João, Serra, Helena   +2 more
core   +1 more source