Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.

Purpose: To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing.

Methods: In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled. Whole-exome sequencing was used to screen mutational profiles in 25 affected individuals and 10 unaffected individuals.

AQP4 regulates ferroptosis and oxidative stress of Muller cells in diabetic retinopathy by regulating TRPV4.

Diabetic retinopathy (DR) is a common microvascular complication that causes visual impairment or loss. Aquaporin 4 (AQP4) is a regulatory protein involved in water transport and metabolism. In previous studies, we found that AQP4 is related to hypoxia injury in Muller cells.

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.

Background: Leber's congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. To date, the pathogenesis of LCA remains unclear, and the majority of cases are caused by autosomal recessive inheritance. In this study, we explored the variant in the Crumbs homologue 1 (CRB1) gene in a Chinese family with LCA.

Valproic Acid-Like Compounds Enhance and Prolong the Radiotherapy Effect on Breast Cancer by Activating and Maintaining Anti-Tumor Immune Function.

Inadequate sustained immune activation and tumor recurrence are major limitations of radiotherapy (RT), sustained and targeted activation of the tumor microenvironment can overcome this obstacle. Here, by two models of a primary rat breast cancer and cell co-culture, we demonstrated that valproic acid (VPA) and its derivative (HPTA) are effective immune activators for RT to inhibit tumor growth by inducing myeloid-derived macrophages and polarizing them toward the M1 phenotype, thus elevate the expression of cytokines such as IL-12, IL-6, IFN-γ and TNF-α during the early stage of the combination treatment. Meanwhile, activated CD8 T cells increased, angiogenesis of tumors is inhibited, and the vasculature becomes sparse.

Valproic acid triggers radiation-induced abscopal effect by modulating the unirradiated tumor immune microenvironment in a rat model of breast cancer.

An abscopal effect occurs when localized radiotherapy causes the regression of tumors distant from the irradiated site. However, such a clinically detectable abscopal effect from radiotherapy alone is rare. This study investigated whether valproic acid ([VPA], a histone deacetylase inhibitor [HDACi]) treatment can stimulate radiation-induced abscopal effect.

Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.

Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identified in Europe and the United States, few reports have been published in regard to Chinese DRS. The aim of the present study was to explore the genetic defect of DRS in a Chinese family.

Zinc oxide nanoparticles from Cyperus rotundus attenuates diabetic retinopathy by inhibiting NLRP3 inflammasome activation in STZ-induced diabetic rats.

Diabetic retinopathy (DRP) is a retinal disease caused by diabetes mellitus, which is categorized by microvascular lesions present in the retina such as vascular leakage, vascular proliferation, and retinal ischemia. The plan of the present study was to the synthesis of Cyperus rotundus-loaded zinc oxide nanoparticles (CR-ZnONPs) which was confirmed by the various characterization methods such as UV-vis spectroscopy, energy dispersive X-ray analysis, Fourier transform infrared, scanning electron microscope, and X-ray diffraction. Also, the effect of CR-ZnONPs on DRP-induced rats was determined by food intake, fasting blood glucose (FBG), HbA1c, insulin, retina thickness, inner nuclear layer (INL), outer nuclear layer (ONL) thickness, lipid peroxidation (LPO), catalase (CAT), glutathione peroxidase (GPx), and superoxide dismutase (SOD).

Nonhuman Primate Model of Oculocutaneous Albinism with and Mutations.

Human visual acuity is anatomically determined by the retinal fovea. The ontogenetic development of the fovea can be seriously hindered by oculocutaneous albinism (OCA), which is characterized by a disorder of melanin synthesis. Although people of all ethnic backgrounds can be affected, no efficient treatments for OCA have been developed thus far, due partly to the lack of effective animal models.

Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy.

Background: Inherited retinal dystrophy (IRD) is a group of retinal disorders that are both clinically and genetically diverse, typically with loss of photoreceptor function. Herein, we aimed to identify the underlying genetic defect in IRD patients with mutations in the SLC7A14 gene.

Methods: A targeted exome capture panel was applied for mutational screening of SLC7A14.