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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...

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...

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

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-1...