Article

mTOR complex 1 pathway activation in severe keratoconus; the functional implications of GWAS identified loci

2018-01-08

Abstract excerpt

<h4>Purpose</h4> Keratoconus (KC) is an eye condition that can lead to a severe vision loss and may warrant a corneal grafting procedure. Meta-analyses of genome wide association studies have identified several genes that confer risks for differences in corneal curvature, corneal thickness, and developing keratoconus. Currently, there is limited evidence of a functional role for the identified loci in the affecte...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d7c189b4-dc06-5d01-b4e7-330e031d8057
DOI: 10.1101/244897

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

mTOR complex 1 pathway activation in severe keratoconus; the functional implications of GWAS identified lociDOI 10.1101/244897Read

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.Semantic proximity Read

Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study.Semantic proximity Read

Corneal curvature-associated MTOR variant differentiates mild myopia from high myopia in Han Chinese population.Semantic proximity Read

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.Semantic proximity Read

Genetics of Keratoconus: A Comprehensive ReviewSemantic proximity Read

Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus.Semantic proximity Read

CMPK1 and RBP3 are associated with corneal curvature in Asian populations.Semantic proximity Read

Comprehensive Evaluation of the Genetic Basis of Keratoconus: New Perspectives for Clinical Translation.Semantic proximity Read

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.Semantic proximity Read

Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with ComorbiditiesSemantic proximity Read

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.Semantic proximity Read

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected CorneasSemantic proximity Read