A review of keratoconus: diagnosis, pathophysiology, and genetics

VM Tur, C MacGregor, R Jayaswal, D O'Brart… - Survey of …, 2017 - Elsevier
We discuss new approaches to the early detection of keratoconus and recent investigations
regarding the nature of its pathophysiology. We review the current evidence for its complex …

Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis

SO Tone, V Kocaba, M Böhm, A Wylegala… - Progress in Retinal and …, 2021 - Elsevier
Fuchs endothelial corneal dystrophy (FECD) is the most common primary corneal
endothelial dystrophy and the leading indication for corneal transplantation worldwide …

Use of genome-wide association studies for drug repositioning

P Sanseau, P Agarwal, MR Barnes, T Pastinen… - Nature …, 2012 - nature.com
Over the past few years, large investments have been made in genome-wide association
studies (GWAS) with the expectation that some of these studies would lead to the …

From structure to phenotype: impact of collagen alterations on human health

L Arseni, A Lombardi, D Orioli - International journal of molecular sciences, 2018 - mdpi.com
The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …

A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy

ED Wieben, RA Aleff, N Tosakulwong, ML Butz… - PLoS …, 2012 - journals.plos.org
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal
endothelium and is the leading indication for corneal transplantation. Variation in the …

Primary open-angle glaucoma genes

JH Fingert - Eye, 2011 - nature.com
A substantial fraction of glaucoma has a genetic basis. About 5% of primary open angle
glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie …

E proteins and ID proteins: helix-loop-helix partners in development and disease

LH Wang, NE Baker - Developmental cell, 2015 - cell.com
The basic Helix-Loop-Helix (bHLH) proteins represent a well-known class of transcriptional
regulators. Many bHLH proteins act as heterodimers with members of a class of ubiquitous …

Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci

AD Børglum, D Demontis, J Grove, J Pallesen… - Molecular …, 2014 - nature.com
Genetic and environmental components as well as their interaction contribute to the risk of
schizophrenia, making it highly relevant to include environmental factors in genetic studies …

[HTML][HTML] TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease

MP Fautsch, ED Wieben, KH Baratz… - Progress in retinal and …, 2021 - Elsevier
Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in
the elderly. Since the first description of an association between FECD and common …

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

S Steinberg, S de Jong, OA Andreassen… - Human molecular …, 2011 - academic.oup.com
Common sequence variants have recently joined rare structural polymorphisms as genetic
factors with strong evidence for association with schizophrenia. Here we extend our …