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Ezh2 does not mediate retinal ganglion cell homeostasis or their susceptibility to injury

and Jonatan Olafsson for help with RGC counts. Author Contributions Conceptualization: Dong Feng Chen. Data curation: Lin Cheng, Lucy J. Wong, Naihong Yan, Richard C. Han, Honghua Yu, Chenying Guo ... , Khulan Batsuuri, Aniket Zinzuwadia, Ryan Guan, Kin-Sang Cho. Formal analysis: Lin Cheng, Lucy J. Wong, Naihong Yan, Richard C. Han, Khulan Batsuuri, Aniket Zinzuwadia, Ryan Guan, Kin-Sang Cho, Dong Feng

A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Background The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. Methodology/Principal Findings Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing ...

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in the mid-periphery of the retina. Twenty two subjects from a four-generation Chinese family with RP and thin cornea, congenital cataract and high myopia is reported in this study. All family members underwent complete ophthalmologic examinations. ...

Hypoxia-inducible transcription factor-1α promotes hypoxia-induced A549 apoptosis via a mechanism that involves the glycolysis pathway

Background Hypoxia-inducible transcription factor-1α (HIF-1α), which plays an important role in controlling the hypoxia-induced glycolysis pathway, is a "master" gene in the tissue hypoxia response during tumor development. However, its role in the apoptosis of non-small cell lung cancer remains unknown. Here, we have studied the effects of HIF-1α on apoptosis by modulating HIF-1α ...