Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

[HTML][HTML] Aqueous outflow-A continuum from trabecular meshwork to episcleral veins

T Carreon, E van der Merwe, RL Fellman… - Progress in retinal and …, 2017 - Elsevier
In glaucoma, lowered intraocular pressure (IOP) confers neuroprotection. Elevated IOP
characterizes glaucoma and arises from impaired aqueous humor (AH) outflow. Increased …

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

PG Hysi, H Choquet, AP Khawaja, R Wojciechowski… - Nature …, 2020 - nature.com
Refractive errors, in particular myopia, are a leading cause of morbidity and disability
worldwide. Genetic investigation can improve understanding of the molecular mechanisms …

Single-cell analysis of human retina identifies evolutionarily conserved and species-specific mechanisms controlling development

Y Lu, F Shiau, W Yi, S Lu, Q Wu, JD Pearson… - Developmental cell, 2020 - cell.com
The development of single-cell RNA sequencing (scRNA-seq) has allowed high-resolution
analysis of cell-type diversity and transcriptional networks controlling cell-fate specification …

Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma

JA Vranka, MJ Kelley, TS Acott, KE Keller - Experimental eye research, 2015 - Elsevier
The trabecular meshwork (TM) is located in the anterior segment of the eye and is
responsible for regulating the outflow of aqueous humor. Increased resistance to aqueous …

The rationale for targeting the LOX family in cancer

HE Barker, TR Cox, JT Erler - Nature Reviews Cancer, 2012 - nature.com
The therapeutic targeting of extracellular proteins is becoming hugely attractive in light of
evidence implicating the tumour microenvironment as pivotal in all aspects of tumour …

Genetic mapping in human disease

D Altshuler, MJ Daly, ES Lander - science, 2008 - science.org
Genetic mapping provides a powerful approach to identify genes and biological processes
underlying any trait influenced by inheritance, including human diseases. We discuss the …

Human genetic variation and its contribution to complex traits

KA Frazer, SS Murray, NJ Schork, EJ Topol - Nature Reviews Genetics, 2009 - nature.com
The last few years have seen extensive efforts to catalogue human genetic variation and
correlate it with phenotypic differences. Most common SNPs have now been assessed in …

How to interpret a genome-wide association study

TA Pearson, TA Manolio - Jama, 2008 - jamanetwork.com
Genome-wide association (GWA) studies use high-throughput genotyping technologies to
assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to …

Anatomy and organization of human skin

JA McGrath, RAJ Eady, FM Pope - Rook's textbook of …, 2004 - books.google.com
Human skin consists of a stratified, cellular epidermis and an underlying dermis of
connective tissue [1–5]. The dermal–epidermal junction is undulating in section; ridges of …