Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.exer.2012.12.015
Title: Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models
Authors: Hawthorne, F.A.
Young, T.L. 
Keywords: Gene identification
Genetics
Genome-wide associations
Linkage
Mapping studies
Myopia
Issue Date: Sep-2013
Source: Hawthorne, F.A., Young, T.L. (2013-09). Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. Experimental Eye Research 114 : 141-149. ScholarBank@NUS Repository. https://doi.org/10.1016/j.exer.2012.12.015
Abstract: 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. © 2013 .
Source Title: Experimental Eye Research
URI: http://scholarbank.nus.edu.sg/handle/10635/110546
ISSN: 00144835
DOI: 10.1016/j.exer.2012.12.015
Appears in Collections:Staff Publications

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