Age-related macular degeneration

EK de Jong, MJ Geerlings, AI den Hollander - Genetics and genomics of …, 2020 - Elsevier
Age-related macular degeneration (AMD) is a multifactorial disease influenced by a
combination of environmental factors and genetic variants. Genomic studies have been …

[HTML][HTML] The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment

MJ Geerlings, EK de Jong, AI den Hollander - Molecular immunology, 2017 - Elsevier
Age-related macular degeneration (AMD) is a progressive retinal disease and the major
cause of irreversible vision loss in the elderly. Numerous studies have found both common …

Genetics and genetic testing for age-related macular degeneration

A Warwick, A Lotery - Eye, 2018 - nature.com
Considerable advances have been made in our understanding of age-related macular
degeneration (AMD) genetics over the past decade. The genetic associations discovered to …

[HTML][HTML] Rare genetic variants in complement factor I lead to low FI plasma levels resulting in increased risk of age-related macular degeneration

TM Hallam, KJ Marchbank, CL Harris… - … & Visual Science, 2020 - tvst.arvojournals.org
Purpose: Rare genetic variants in complement factor I (CFI) that cause low systemic levels of
the protein (FI) have been reported as a strong risk factor for advanced age-related macular …

Effect of rare coding variants in the CFI gene on Factor I expression levels

S de Jong, EB Volokhina, A de Breuk… - Human Molecular …, 2020 - academic.oup.com
Factor I (FI) is one of the main inhibitors of complement activity, and numerous rare coding
variants have been reported in patients with age-related macular degeneration, atypical …

Hemicentin-1 is an essential extracellular matrix component during tooth root formation by promoting mesenchymal cells differentiation

Y Cui, C Li, H Wang, L Li, J Xie, X Zhou… - Frontiers in Cell and …, 2024 - frontiersin.org
Introduction: Root dentin formation is an important process in tooth development. We tried to
identify potential genes that regulate root dentin formation which could be potentially used …

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration

R Ratnapriya, İE Acar, MJ Geerlings… - Human molecular …, 2020 - academic.oup.com
Genome-wide association studies (GWAS) have identified 52 independent variants at 34
genetic loci that are associated with age-related macular degeneration (AMD), the most …

SRPX and HMCN1 regulate cancer‑associated fibroblasts to promote the invasiveness of ovarian carcinoma

CL Liu, HW Pan, PL Torng, MH Fan… - Oncology …, 2019 - spandidos-publications.com
Cancer‑associated fibroblasts (CAFs) are known to be essential in cancer initiation and
development. However, the role of CAFs in promoting ovarian cancer (OC) invasion remains …

[HTML][HTML] Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic

TM Hallam, SJ Sharp, A Andreadi, D Kavanagh - Immunobiology, 2023 - Elsevier
Complement factor I (FI) is the nexus for classical, lectin and alternative pathway
complement regulation. FI is an 88kDa plasma protein that circulates in an inactive …

Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

S Aryal, D Anand, H Huang, AP Reddy, PA Wilmarth… - Human genetics, 2023 - Springer
To expedite gene discovery in eye development and its associated defects, we previously
developed a bioinformatics resource-tool iSyTE (integrated Systems Tool for Eye gene …