Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease | Zendy

Anastasia Marie Litke | Zendy; Sarah Samuelson | Zendy; Kerry R. Delaney | Zendy; Yves Sauvé | Zendy; Robert L. Chow | Zendy

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Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease

Author(s) -

Anastasia Marie Litke,

Sarah Samuelson,

Kerry R. Delaney,

Yves Sauvé,

Robert L. Chow

Publication year - 2018

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.18-25490

Subject(s) - missense mutation , biology , immunolabeling , genetics , mutation , repressor , microbiology and biotechnology , gene , transcription factor , immunology , immunohistochemistry

Despite numerous studies associating Visual System Homeobox 1 (VSX1), with posterior polymorphous corneal dystrophy and keratoconus, its role in these diseases is unclear. Here we examine the pathogenicity of VSX1 missense mutations in vitro and in a mouse genetic model.

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