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Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models.

Publication ,  Journal Article
Hawthorne, FA; Young, TL
Published in: Exp Eye Res
September 2013

Genetic studies of both population-based and recruited affected patient cohorts have identified a number of genomic regions and candidate genes that may contribute to myopic development. Scientists have developed animal models of myopia, as collection of affected tissues from patents is impractical. Recent advances in whole exome sequencing technology show promise for further elucidation of disease causing variants as in the recent identification of rare variants within ZNF644 segregating with pathological myopia. We present a review of the current research trends and findings on genetic contributions to myopic refraction including candidate loci for myopic development and their genomic convergence with expression studies of animal models inducing myopic development.

Duke Scholars

Published In

Exp Eye Res

DOI

EISSN

1096-0007

Publication Date

September 2013

Volume

114

Start / End Page

141 / 149

Location

England

Related Subject Headings

  • Transcription Factors
  • Ophthalmology & Optometry
  • Myopia
  • Humans
  • Genome-Wide Association Study
  • Genetic Linkage
  • Gene Expression Profiling
  • Disease Models, Animal
  • Animals
  • 3212 Ophthalmology and optometry
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Hawthorne, F. A., & Young, T. L. (2013). Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. Exp Eye Res, 114, 141–149. https://doi.org/10.1016/j.exer.2012.12.015
Hawthorne, Felicia A., and Terri L. Young. “Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models.Exp Eye Res 114 (September 2013): 141–49. https://doi.org/10.1016/j.exer.2012.12.015.
Hawthorne, Felicia A., and Terri L. Young. “Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models.Exp Eye Res, vol. 114, Sept. 2013, pp. 141–49. Pubmed, doi:10.1016/j.exer.2012.12.015.
Journal cover image

Published In

Exp Eye Res

DOI

EISSN

1096-0007

Publication Date

September 2013

Volume

114

Start / End Page

141 / 149

Location

England

Related Subject Headings

  • Transcription Factors
  • Ophthalmology & Optometry
  • Myopia
  • Humans
  • Genome-Wide Association Study
  • Genetic Linkage
  • Gene Expression Profiling
  • Disease Models, Animal
  • Animals
  • 3212 Ophthalmology and optometry