Complex trait genetics of refractive error

TL Young, R Metlapally, AE Shay - Archives of ophthalmology, 2007 - jamanetwork.com
Refractive errors (myopia, hyperopia, and astigmatism) are complex heterogeneous
disorders of the human eye and are ideal for genetic investigation. Moderate to severe …

Distribution and function of glycosaminoglycans and proteoglycans in the development, homeostasis and pathology of the ocular surface

S Puri, YM Coulson-Thomas, TF Gesteira… - Frontiers in cell and …, 2020 - frontiersin.org
The ocular surface, which forms the interface between the eye and the external environment,
includes the cornea, corneoscleral limbus, the conjunctiva and the accessory glands that …

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

AI Iglesias, A Mishra, V Vitart, Y Bykhovskaya… - Nature …, 2018 - nature.com
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye
diseases such as keratoconus and glaucoma. We perform a genome-wide association meta …

Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases

N Matsushima, N Tachi, Y Kuroki, P Enkhbayar… - Cellular and Molecular …, 2005 - Springer
A number of human diseases have been shown to be associated with mutation in the genes
encoding leucine-rich-repeat (LRR)-containing proteins. They include 16 different LRR …

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3

X Xiao, W Sun, J Ouyang, S Li, X Jia, Z Tan… - Human genetics, 2019 - Springer
High hyperopia is a common and severe form of refractive error. Genetic factors play
important roles in the development of high hyperopia but the exact gene responsible for this …

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans

N Matsushima, H Miyashita, RH Kretsinger - Journal of Cell …, 2021 - Springer
Small leucine rich repeat proteoglycans (SLRPs) are a group of active components of the
extracellular matrix in all tissues. SLRPs bind to collagens and regulate collagen fibril …

Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12

MJ Kim, RF Frausto, GOD Rosenwasser, T Bui, DJ Le… - PloS one, 2014 - journals.plos.org
Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder
affecting the cornea and iris. Next-generation sequencing of the previously identified PACD …

Matrix glycosaminoglycans and proteoglycans in human cornea organoids and similarities with fetal corneal stages

S Ashworth, M Dhanuka, A Khodadadi-Jamayran… - The Ocular Surface, 2025 - Elsevier
Purpose We developed human cornea organoids (HCOs) from induced pluripotent stem
cells (iPSCs) where single-cell RNA-sequence (scRNA-seq) analysis suggested similarity …

LRRCE: a leucine-rich repeat cysteine capping motif unique to the chordate lineage

H Park, J Huxley-Jones, RP Boot-Handford, PN Bishop… - BMC genomics, 2008 - Springer
Background The small leucine-rich repeat proteins and proteoglycans (SLRPs) form an
important family of regulatory molecules that participate in many essential functions. They …

Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse

O Puk, C Dalke, J Calzada-Wack… - … & visual science, 2009 - iovs.arvojournals.org
Purpose.: The purpose of this study was the morphologic and genetic characterization of the
novel eye size mutant Aca23 in the mouse. Methods.: The eyes of the mutants were …