Together this region might play a critical role for susceptibility to high myopia, and warrants further confirming studies and investigations as to the mechanisms by which UMODL1 may contribute to myopia.
To study the expression of collagen I and transcription factor specificity protein 1 (Sp1), a transforming growth factor-β1 (TGF-β1) downstream target, and reveal the impact of the TGF-β1-Sp1 signaling pathway on collagen remodeling in myopic sclera.
To evaluate the ability of the PDI Check (PDI Check LLC, Anchorage, AK) near vision screening game to assess monocular acuity, stereopsis, suppression, and color.
To evaluate the ability of the PDI Check (PDI Check LLC, Anchorage, AK) near vision screening game to assess monocular acuity, stereopsis, suppression, and color.
To evaluate the ability of the PDI Check (PDI Check LLC, Anchorage, AK) near vision screening game to assess monocular acuity, stereopsis, suppression, and color.
To delineate longitudinal changes in the optic nerve head (ONH) and peripapillary structure during myopia progression in childhood using spectral-domain (SD) OCT and to explore the factors associated with myopic ONH and peripapillary changes.
To clarify the role of bone morphogenetic proteins (BMP-2,-4,-5) in sclera remodeling during myopia induction and their effect on sclera fibroblasts in cell culture.
Tkatchenko and colleagues applied a systematic approach using a combination of gene set enrichment analysis, genome-wide association studies, and functional analysis of a murine model to identify a myopia susceptibility gene, APLP2.
Three single nucleotide polymorphisms (SNPs) [RDH851 (rs2233789), RDH8E5a (rs1644731), and RDH855b (rs3760753)] were selected, based on the linkage disequilibrium pattern of RDH8 from a previous study, and genotyped for 160 Han Chinese nuclear families with highly myopic (-10 diopters or worse) offspring as well as in an independent group with 166 highly myopic cases (-10 diopters or worse) and 211 controls.
Three novel variations with potential functional consequences were identified in the GRM6 of patients with high myopia, suggesting a potential role in the development of myopia in rare cases.
This work identifies APLP2 as one of the "missing" myopia genes, demonstrating the importance of a low-frequency gene variant in the development of human myopia.
This suggests that PAX6 may play a role in myopia development, possibly because of genetic variation in an upstream promoter or regulator, although no definite association between PAX6 common variants and myopia was demonstrated in this study.
This study reports the successful replication of MYP12 in three large, multigenerational families with autosomal dominant (AD) common myopia (spherical equivalent [SphE] </= -0.50 D).
This study examined the relationship between high myopia and three myopia candidate genes--matrix metalloproteinase 2 (MMP2) and tissue inhibitor of metalloproteinase-2 and -3 (TIMP2 and TIMP3)--involved in scleral remodeling.
This study examined the relationship between high myopia and three myopia candidate genes--matrix metalloproteinase 2 (MMP2) and tissue inhibitor of metalloproteinase-2 and -3 (TIMP2 and TIMP3)--involved in scleral remodeling.
This study aimed to assess heritability of myopia in Lithuania and evaluate both genes GJD2 (Gap Junction Protein, Delta 2) and RASGRF1 (RAS protein-specific guanine nucleotide-releasing factor 1) relation with myopia.
This article reports an innovative transdisciplinary methodology to down scale Climate Change scenarii to river basin level with a special focus on the development of climate change narrative under SSP5-RCP8.5 combination called Myopic scenario and SSP1-RCP4.5 combination called Sustainable scenario.
These loci have previously demonstrated association with axial length (ZC3H11B), myopia (NPLOC4), spherical equivalent refractive error (LINC00340) and eye colour (HERC2).
These loci have previously demonstrated association with axial length (ZC3H11B), myopia (NPLOC4), spherical equivalent refractive error (LINC00340) and eye colour (HERC2).
These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana.