Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.

Purpose: Norrie disease (ND) is a rare X-linked recessive disorder characteristic of early childhood blindness. While several mutations in the NDP gene have been reported as causative for ND, the genetic etiology remains unknown for many patients. This study aims to describe a novel mutation and explore the clinical manifestations in a Chinese family with two affected males.

Characterization and Application of EST-SSR Markers Developed from Transcriptome Sequences in (Poaceae: Triticeae).

Background: L. is the largest genus in the Triticeae tribe. Most species in this genus are highly stress resistant, with excellent forage value.

Progression of bilateral morning glory syndrome associated with unilateral persistent fetal vasculture: A case report of long term follow-up in an infant.

Purpose: To describe a case of Bilateral Morning Glory Syndrome (MGS) associated with Unilateral Persistent Fetal Vasculature (PFV) in a 3-day old neonate.

Observations: A 3-day-old neonate was found bilateral retinal abnormalities due to neonatal eye screening. Dilated fundus exam showed bilateral optic disc dysplasia with the persistent hyaloid vessels in right eye at first.

Molecular Mechanisms of Iron Mediated Programmed Cell Death and Its Roles in Eye Diseases.

Ferroptosis, a newly identified, iron-dependent type of programmed cell death, is active in several diseases, such as heart disease, brain damage, and cancer. Its main characteristics commonly involve excess iron accumulation, elevated lipid peroxides and reactive oxygen species, and reduced levels of glutathione and glutathione peroxidase 4 levels. The effects of ferroptosis in eye diseases cannot be underestimated, with ferroptosis becoming a research target in ocular disorders and emerging evidence from a series of and researches into ferroptosis revealing its role in eye conditions.

Circular RNA circZNF292 regulates H O -induced injury in human lens epithelial HLE-B3 cells depending on the regulation of the miR-222-3p/E2F3 axis.

Circular RNAs (circRNAs) play important roles in the pathogenesis of age-related cataract (ARC). CircRNA zinc finger protein 292 (circZNF292, hsa_circ_0004058) is downregulated in ARC lens capsules. Here, we focused on its precise roles in oxidative stress underlying the pathogenesis of ARC.