[HTML][HTML] An overview of myopia genetics

XB Cai, SR Shen, DF Chen, Q Zhang, ZB Jin - Experimental eye research, 2019 - Elsevier
Myopia is one of the leading ocular disorders causing visual impairment worldwide, with the
prevalence increasing rapidly. It's a significant global public health concern in 21st century …

The genetic basis for adult onset glaucoma: recent advances and future directions

Z Wang, JL Wiggs, T Aung, AP Khawaja… - Progress in Retinal and …, 2022 - Elsevier
Glaucoma, a diverse group of eye disorders that results in the degeneration of retinal
ganglion cells, is the world's leading cause of irreversible blindness. Apart from age and …

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

H Choquet, RB Melles, D Anand, J Yin… - Nature …, 2021 - nature.com
Cataract is the leading cause of blindness among the elderly worldwide and cataract
surgery is one of the most common operations performed in the United States. As the …

Update on the genetics of primary open-angle glaucoma

H Youngblood, MA Hauser, Y Liu - Experimental eye research, 2019 - Elsevier
Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible
blindness in the world. This ocular disease describes a set of optic neuropathies of which …

Molecular genetics of glaucoma: Subtype and ethnicity considerations

R Zukerman, A Harris, A Verticchio Vercellin, B Siesky… - Genes, 2020 - mdpi.com
Glaucoma, the world's leading cause of irreversible blindness, is a complex disease, with
differential presentation as well as ethnic and geographic disparities. The multifactorial …

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

AJ Hardcastle, P Liskova, Y Bykhovskaya… - Communications …, 2021 - nature.com
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal
thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It …

Update on the genetics of keratoconus

Y Bykhovskaya, YS Rabinowitz - Experimental Eye Research, 2021 - Elsevier
In the past few years we have seen a great acceleration of discoveries in the field of
keratoconus including new treatments, diagnostic tools, genomic and molecular …

Clinical implications of recent advances in primary open-angle glaucoma genetics

H Choquet, JL Wiggs, AP Khawaja - Eye, 2020 - nature.com
Over the last decade, genetic studies, including genome-wide association studies (GWAS),
have accelerated the discovery of genes and genomic regions contributing to primary open …

Transforming growth factor beta receptor 2 (Tgfbr2) deficiency in keratocytes results in corneal ectasia

YC Wang, OB Zolnik, S Yasuda, LK Yeh, Y Yuan… - The Ocular Surface, 2023 - Elsevier
Abstract Purpose We hypothesized that Transforming growth factor beta receptor 2 (Tgfbr2)
deletion in keratocyte (Tgfbr2 kera-cko), the corneal stroma cell, can result in corneal …

Human and rat skeletal muscle single-nuclei multi-omic integrative analyses nominate causal cell types, regulatory elements, and SNPs for complex traits

P Orchard, N Manickam, C Ventresca… - Genome …, 2021 - genome.cshlp.org
Skeletal muscle accounts for the largest proportion of human body mass, on average, and is
a key tissue in complex diseases and mobility. It is composed of several different cell and …