Characterizing the “POAGome”: A bioinformatics-driven approach to primary open-angle glaucoma

ID Danford, LD Verkuil, DJ Choi, DW Collins… - Progress in retinal and …, 2017 - Elsevier
Primary open-angle glaucoma (POAG) is a genetically, physiologically, and phenotypically
complex neurodegenerative disorder. This study addressed the expanding collection of …

Challenges in posterior uveitis—tips and tricks for the retina specialist

M Paez-Escamilla, S Caplash, G Kalra, J Odden… - Journal of Ophthalmic …, 2023 - Springer
Purpose Posterior uveitis is a common chorioretinal pathology affecting all ages worldwide
and is a frequent reason for referral to the retina clinic. The spectrum of etiologies for uveitis …

The involvement of the canonical Wnt‐signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta‐analysis

E Grünblatt, Z Nemoda, AM Werling… - American Journal of …, 2019 - Wiley Online Library
Wnt‐signaling is one of the most abundant pathways involved in processes such as cell‐
proliferation,‐polarity, and‐differentiation. Altered Wnt‐signaling has been linked with …

Soluble vascular endothelial glycocalyx proteoglycans as potential therapeutic targets in inflammatory diseases

M Kunnathattil, P Rahul, T Skaria - Immunology and Cell …, 2024 - Wiley Online Library
Reducing the activity of cytokines and leukocyte extravasation is an emerging therapeutic
strategy to limit tissue‐damaging inflammatory responses and restore immune homeostasis …

Matrix reloaded: CCN, tenascin and SIBLING group of matricellular proteins in orchestrating cancer hallmark capabilities

R Thakur, DP Mishra - Pharmacology & Therapeutics, 2016 - Elsevier
Matricellular proteins (MCPs) are the non-structural extracellular matrix (ECM) proteins with
various regulatory functions. MCPs are critical regulators of ECM homeostasis and are often …

VCAN canonical splice site mutation is associated with vitreoretinal degeneration and disrupts an MMP proteolytic site

PH Tang, G Velez, SH Tsang… - … & visual science, 2019 - iovs.arvojournals.org
Purpose: To gain insight into the pathophysiology of vitreoretinal degeneration, the clinical
course of three family members with Versican Vitreoretinopathy (VVR) is described, and a …

[图书][B] Retinal dystrophy gene atlas

S Zahid, K Branham, D Schlegel, ME Pennesi… - 2018 - Springer
We are forever indebted to the individuals whose efforts have transformed the field of retinal
dystrophies into the dynamic and growing field it is today. We dedicate this work to the spirit …

Long-term outcomes and risk factors for severe vision loss in autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV)

TM Boyce, SS Whitmore, K Varzavand… - American journal of …, 2022 - Elsevier
Purpose Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare
disorder characterized by uveitis, retinal neovascularization, and retinal degeneration. We …

Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management

HH Ghoraba, J Sears… - Clinical & Experimental …, 2025 - Wiley Online Library
Hereditary vitreoretinopathies (HVRs), also known as hereditary vitreoretinal degenerations
comprise a heterogeneous group of inherited disorders of the retina and vitreous …

A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy

J Zhong, J Shi, X Zhang, K Xu, X Zhang… - Molecular Genetics & …, 2023 - Wiley Online Library
Background Wagner vitreoretinopathy (WVR) is a rare autosomal dominant vitreoretinopathy
caused by pathogenic variants in the VCAN gene. The aim of this study was to report a novel …